Method to Delay Aging of Stem Cells Developed
Stem cells are essential building blocks for all organisms, from plants to humans. They can divide and renew themselves throughout life, differentiating into the specialized tissues needed during development, as well as cells necessary to repair adult tissue.
Therefore, they can be considered immortal, in that they recreate themselves and regenerate tissues throughout a person’s lifetime, but that doesn’t mean they don’t age. They do, gradually losing their ability to effectively maintain tissues and organs.
Now, researchers at the Salk Institute for Biological Studies have uncovered a series of biological events that implicate the stem cells’ surroundings, known as their “niche,” as the culprit in loss of stem cells due to aging. Their findings, published May 23rd in Nature, have implications for treatment of age-related diseases and for the effectiveness of regenerative medicine.
“The findings suggest, for example, that putting new or young stem cells into an old environment — that of an aged patient — might not lead to the best outcome in tissue regeneration,” says the study’s senior investigator, Leanne Jones, associate professor in Salk’s Laboratory of Genetics.
Stem cells reside within a microenvironment of other cells-the niche-that is known to play a role in stem cell function. For example, after a tissue is injured, the niche signals to stem cells to form new tissue. It is believed that stem cells and their niche send signals to each other to help maintain their potency over a lifetime.
But while the loss of tissue and organ function during aging has been attributed to decreases in stem cell function, it has been unclear how this decline occurs. Jones’ lab has been investigating a number of possible scenarios, such as whether the loss of tissue function is due to a decrease in the number of stem cells, to the inability of stem cells to respond to signals from their niche, or to reduced signaling from the niche.
To explore stem cell aging, Jones uses cells found in the testes of the male fruit fly, Drosophila melanogaster, which are remarkably similar to those found in humans.
The researchers show how signals from the niche that act to maintain the vitality of the flies’ stem cells are lost over time, leading to a decline in the number of stem cells available to maintain the tissue. They also show that restoring those signals revitalizes the cells.
“Stem cell behavior is similar between flies and humans, so our findings have major implications for breakthroughs in using tissue stem cells to treat age-related tissue decline or regeneration after an injury,” says one of the paper’s first authors, Hila Toledano, a former Salk investigator who is now at the University of Haifa in Israel.
The Salk researchers discovered that as the stem cell niche ages, the cells produce a microRNA (a molecule that plays a negative role in the production of proteins from RNA) known aslet-7. This microRNA is known to exist in a number of species, including humans, and helps time events that occur during development.
This increase in let-7 leads to a domino effect that flips a switch on aging by influencing a protein known as Imp, whose function is to protect another molecule, Upd, which is secreted from a key area of the niche.
In short, Upd promotes the signaling that keeps stem cells active and in contact with the niche so that they can self-renew. And as aging advances, increasing expression of let-7 ultimately leads to lower Upd levels, decreasing the number of active stem cells in the niche. What leads to accumulation oflet-7 in the niche of aged flies still remains an open question.
The researchers also demonstrated they could reverse this age-related loss of stem cells by increasing expression of Imp. “We turned the aging switch off,” says Jones.
This antidote to aging might be accomplished in a number of ways, such as by preventing let-7 from being elevated, blocking the destruction of Upd or increase the expression of Imp. “This research opens new avenues for drug development aimed at stimulating a patient’s own stem cells to overcome the consequences of aging,” says Toledano.
Jones says the study uncovered a mechanism by which a niche can lose its supportive function and demonstrates this can be reversed. “In patients, this could include co-transplantation of components of the niche itself, or rejuvenation of the niche using drug therapy to support the transplanted stem cells,” says Jones.
Co-authors include Cecilia D’Alterio, from the Laboratory of Genetics at Salk, Benjamin Czech, from the Howard Hughes Medical Institute and Cold Spring Harbor Laboratory, and Erel Levine, from Harvard University.
The study was funded by G. Harold and Leila Y. Mathers Charitable Foundation, Ellison Medical Foundation, Emerald Foundation, American Federation for Aging Research and National Institutes of Health.
Story Source:
The above story is reprinted from materials provided bySalk Institute for Biological Studies, via Newswise.
Note: Materials may be edited for content and length. For further information, please contact the source cited above.
Pathway Genomics Enhances Genetic Testing Service with Health Coaching Option
SAN DIEGO, May 08, 2012 (BUSINESS WIRE) — Pathway Genomics Corporation, a genetic testing laboratory, now offers a health coaching service through a national non-profit organization. Provided by Healthy Adventures Foundation, the health coaching service is currently available as an addition to Pathway Genomics’ premier genetic testing service, Pathway Fit(R), which tests for food metabolism and exercise response and is available through physicians. The health coaching service provides a comprehensive approach to diet and lifestyle change by using patients’ genetic testing results to help set measurable goals and objectives, monitor progress, and track changes in health.
“Pathway is pleased to align with Healthy Adventures Foundation and add health coaching as a complement to Pathway’s genetic testing services,” said Jim Plante, Pathway’s founder and CEO. “Using a health coach is an excellent option for physicians who want to empower patients to make positive lifestyle changes based on their genetic test results.”
Offered as a separate service called Pathway Fit PLUS(SM), the health coaching service is available directly to patients in three options — each based on the level of guidance the patient needs. The service is provided by wellness coaches who are educated and experienced in assisting patients’ understanding of current lifestyle habits in order to identify and achieve realistic steps towards a healthier lifestyle. The goal is to build supportive relationships that empower people to change by providing encouragement, resources, tools and education.
For more information about Pathway Fit PLUS, visit www.pathway.com/fit-plus.
About Pathway Genomics
Pathway Genomics owns and operates an on-site genetic testing laboratory that is accredited by the College of American Pathologists (CAP), accredited in accordance with the U.S. Health and Human Services’ Clinical Laboratory Improvement Amendments (CLIA) of 1988, and licensed by the state of California. Using only a saliva sample, the company incorporates customized and scientifically validated technologies to generate personalized reports, which address a variety of medical issues, including an individual’s carrier status for recessive genetic conditions, food metabolism and exercise response, prescription drug response, and propensity to develop certain diseases such as heart disease, type 2 diabetes and cancer. For more information about Pathway Genomics, visit www.pathway.com
About Healthy Adventures Foundation
Healthy Adventures Foundation is a 501(c)(3) non-profit corporation that has been in business since 1997. Healthy Adventures Foundation strives to improve quality of life, while seeking balance in healthy behaviors. Behavior strategies target nutrition, physical activity, healthy lifestyle, behavior modification, health awareness, and positive self-image.
SOURCE: Pathway Genomics Corporation
Pathway Genomics Corporation | Zak Pugh, (858) 217-4358 | pr@pathway.com
Prenatal testing can prepare parents for a child with special needs
O’Hara, M. (2012, May 8). Doc talk: Prenatal testing can prepare parents for a child with special needs . Retrieved from http://www.kansas.com/2012/05/04/2327090/doc-talk-prenatal-testing-can.html
The ability to assess a pregnant woman’s risk of having a baby with certain abnormalities has grown tremendously in recent decades. This is one of the many reasons why prenatal care is important. The parents may need to make decisions based on the information available.
Knowing about certain conditions beforehand can help the parents prepare to deliver the baby at a hospital capable of providing any special care that may be needed at birth, such as pediatric surgery. It also can give the parents time to learn about and plan for care and support that will be needed later, and to help them prepare emotionally for a child with special needs.
First, it is important to know that not all abnormalities can be detected before birth. A certain amount of risk applies to every situation, including pregnancy and childbirth, despite our best attempts at detection.
There are many possible reasons for abnormalities; among them are genetic defects. Some parents know that certain genetic defects have occurred among family members, and they are aware that there is some risk. In other cases, parents are completely unaware of genetic problems they may have inherited or that may occur spontaneously.
Screening for genetic problems is not performed routinely. Ultrasound exams and blood tests usually are done during pregnancy. However, they do not look for certain “markers” that can indicate genetic defects. The physician should offer genetic screening, or the patient can request it.
There is a difference between screening tests and diagnostic tests. Screening determines the likelihood of an abnormal condition. If the screening shows an increased risk of having an affected baby, a diagnostic test may be performed to confirm whether the abnormality is indeed present. Diagnostic tests to provide more information include a more detailed ultrasound exam: amniocentesis, which requires taking a small of amount of the fluid surrounding the fetus, or chorionic villus sampling, which tests cells taken from the placenta.
Among the genetic abnormalities pregnant women choose to be screened for are Down syndrome, neural tube defects, abdominal wall defects and heart defects.
Down syndrome occurs in one of every 800 births; the risk increases with the mother’s age. In women older than age 45, the risk is one of every 25 births. Down syndrome results in mental retardation and may include heart defects, problems with vision, hearing, digestion and hip dislocation.
A neural tube defect is an incomplete closure of the spine that can result in spina bifida or “split spine,” requiring surgery. In the Midwest, spina bifida occurs in about one in 1,000 births. Heart and abdominal defects also may require surgery. Anencephaly, which is the absence of a large part of the brain and skull, is a fatal condition. The chromosome defect Trisomy 18 is nearly always fatal at birth or within one year.
Screening is done through ultrasound and blood tests at various stages of pregnancy. For instance, during an ultrasound, the technologist can measure the thickness of the skin at the back of the neck. Increased thickness may indicate Down syndrome or a heart defect. A special blood test measures the levels of protein and other factors that also may indicate Down syndrome and other chromosomal problems. In the first trimester of pregnancy, the combined ultrasound and blood test can detect 88 percent of Down syndrome cases. During the second trimester, the tests detect about 90 percent of cases.
Communication with your doctor during pregnancy is important. Be sure to discuss genetics along with any other concerns in preparation for childbirth.
Untitled
By Janice Lloyd, USA TODAY
CHAPEL HILL, N.C – Kristen Powers finishes packing her lunch and opens the kitchen door to leave for high school with her brother, Nate, in tow
“I drive but always let him pick the music,” she says, smiling.
He gives her a gentle nudge and they set off to the car.
Nothing like having a kid brother behind you, especially when you are embarking on a courageous journey. Kristen, 18, is having blood work done May 18 to find out whether she inherited the defective gene for Huntington’s disease, a fatal, neurodegenerative disorder that can debilitate victims as early as their mid-30s. The siblings have a 50-50 chance of developing the rare disease, which claimed their mother’s life last year at age 45.
Nate, 16, doesn’t know whether he’ll follow his sister’s lead. Only people 18 or older can be tested, unless they’re exhibiting symptoms, because a positive result can be shattering news. There’s also no cure. Huntington’s is devastating on so many levels: People lose coordination, developing wild jerky movements; they suffer behavioral changes, often becoming depressed and psychotic; and in the end, they develop dementia and require total care. One of their last images of their mother was in a wheelchair in a nursing home.
Nate “has been amazingly supportive of my wanting to get tested,” Kristen says. “He is interested in the whole process, but he’s been hesitant over the years to commit to testing, while I’ve known since I was 15 that I wanted to do this.”
“Know thyself” has taken on a scientific meaning for a growing number of people who, like Kristen, want a crystal ball to look into their DNA. Ever since the Human Genome Project identified the 20,000 to 25,000 genes in 2003, researchers have continued to identify the ones that play roles in diseases, from Alzheimer’s to type 2 diabetes to certain types of cancer. Though lifestyle and environment are big pieces of the puzzle, consider this: Genetic tests could become part of standard care for everyone and revolutionize the way medicine is practiced, proponents say.
Gone would be the days of waiting to develop a disease. People would know about diseases they are at risk for and could change their living habits or consider treatments. Opponents warn about the potential for invasion of privacy — threatening employment and insurance — and the possibility that people equipped with the knowledge of their genetic makeup might make risky and unhealthy decisions.
Kristen has had counseling at the University of North Carolina to prepare her for dealing with her testing news, and she copes with stress by walking with her rescue dog, Jake. “Walking is critical for me,” she says. She will return to the campus at the end of May with her father, Ed Powers, to get the results.
“She’s always wanted to take matters into her own hands,” her father says. “She’s constantly asking what we can do to make things better. I am her biggest backer and want to be there for her every step of the way during this.”
Leaning on social media
Kristen leans on her kitchen table and explains in a quiet, clear voice that she is ready to handle the news and has no plans to keep it secret.
“I started out trying to find answers on the Internet about Huntington’s disease,” she says, “but I quickly became very disappointed. There’s not a good video or an advocate for it, like Michael J. Fox is for Parkinson’s disease.”
She has raised $17,580 on the website Indiegogo.com and hired a video crew to make a documentary about the emotional and medical aspects of testing on her and her family. “Social media can be a real unifier. There’s not much out there yet for young people on Huntington’s. I want to change that.”
Her mother, Nicola Powers, was diagnosed in 2003 after struggling with symptoms for several years. “I remember watching her stumble and walk like a drunk person at times,” Kristen says. “That was before we knew what was wrong with her. She was really struggling. It was very scary.”
Nicola Powers didn’t know the disease ran in her family. She grew apart from her biological father after her parents divorced. Once she looked into his medical history because of her symptoms, she discovered he had Huntington’s.
Kristen doesn’t want the gene to be passed on again. She says she won’t have children if she tests positive: “I can be candid with potential partners and be responsible,” she says.
Genetic counselors warn about the emotional impact of testing on the person and family.
“Some people like to plan everything out,” says Brenda Finucane, president of the National Society of Genetic Counselors. “They think the information is empowering, while some people want to see how life plays out.”
Robert Green has found that most people will not seek out risk information about late-onset Alzheimer’s disease if they’re not psychologically prepared to handle it.
But “it turns out many people handle this kind of information quite well,” says Green, associate director for research in genetics at Brigham and Women’s Hospital in Boston. “Some changed their wills, and some made lifestyle changes. Taking these tests is all about actionability.”
Timing can be tricky, though. Kristen’s father and stepmother, Betsy Banks Saul, suggested she hold off until she has a support system at college. “She’s a very intelligent, strong young woman and we trust her, but we wish we could be nearby to support her,” Betsy says.
After high school graduation in June, she will attend Stanford, in California — far from her farm, family and friends. Kristen listened to her parents’ concerns and considered putting off testing, “but I am a type A person who has always craved getting information. I want to know.”
Not all tests are equal
Her test will look for the single gene that causes Huntington’s, but most diseases have a more complicated genetic profile. A growing number of tests look at multiple genes that might increase or decrease a person’s risk for developing thousands of diseases. Companies market the tests for as little as $100 on the Internet and don’t require a physician’s signature. But those kinds of results are not always reliable, says Ardis Dee Hoven, former chair of the American Medical Association.
“In the absence of a medical professional, a patient might have difficulty interpreting the test and make decisions that are not healthy decisions,” Hoven says.
For instance, someone who tests negative for BRCA1 and BRCA2 — genes that put people at a higher risk for developing certain breast and ovarian cancers — might not know there are other risk factors. Unless the patient has a physician guiding her, Hoven says, she might think she’s home-free and skip routine screening tests.
David Agus, author of the new book TheEnd of Illness, says that’s why the company he co-founded, Navigenics, requires customers to get a signature from their doctors before being tested. Navigenics also offers genetic counseling as part of the $300-$400 fee.
“Genetics are a small piece of the puzzle, but they’re a very important piece,” says Agus, head of the Center for Applied Molecular Medicine at the University of Southern California.
A cancer specialist, Agus discovered he has an above-average risk for cardiovascular disease and a slightly lower-than-average risk for colon cancer. His doctor put him on a statin to help prevent heart disease, and, he says, “my kids took it upon themselves to keep me away from french fries.” He also had a colonoscopy at age 43, earlier than medical standards call for, and had a polyp removed. “Could my polyp have turned into cancer? Who knows? But why should I wait for that to happen? Unless our country can focus on prevention, which testing is all about, our health care costs will be completely out of control.”
A study of 1,200 patients that was presented in March at an American College of Cardiology meeting found that those who were told they had a gene linked to heart disease improved their adherence to statin therapy by 13% compared with those who had not been tested for the gene.
“I could see how testing could become embedded in how we treat our patients,” Hoven says. “It’s always better to prevent disease than to treat it, and quality of life is so much better for people.”
How accessibility could change
Since the human genome was unraveled a dozen years ago, genetic testing has been cost-prohibitive for the average person. The promise was that this breakthrough would lead to a better understanding of myriad diseases and, ultimately, individualized treatments. Whole genome testing studies the interaction of our 20,000 to 25,000 genes with one another and with a person’s environment. The $10,000 price tag, though, is expected to drop to $1,000 within the decade. When the tests become mainstream, doctors could face a dilemma.
A study in March reports that 10 of 16 specialists (62%) favored telling a patient he carried the gene for Huntington’s if the finding was incidental to why the test was ordered. The study noted that the specialists unanimously agreed on disclosing 21 of 99 commonly ordered genetic conditions for adults, and “multiple expert panels” might be needed to agree on what to tell patients.
“This is one of the toughest issues facing the rollout of clinical sequencing (whole genome sequencing),” Green says. He adds that after the study, he co-chaired a forum March 28 of the American College of Medical Genetics to discuss how to form a consensus.
That’s a non-issue for Kristen. She knows she will get an answer. One of her hardest decisions has been picking who will be in the room when she gets her results. She knows she wants the videographers taping. At first she didn’t want her father to be there, but she relented when he asked her to reconsider.
“I know I can take the news,” she says, “Knowledge is power. But I didn’t think I could get a positive result and then watch my father cry. I’ve never seen him cry before.”
(Source: Lloyd, J. (2012, April 23). Genetic testing and disease: Would you want to know? . Retrieved from http://www.usatoday.com/news/health/story/2012-04-09/genetic-testing-huntingt…)
It’s in the Genes
[[posterous-content:pid___0]]When San Diegan Brad Lally turned 45 last year, he decided his approaching middle age was the time to get a better handle on his health and fitness.
“I wanted to learn more about myself, and specifically, more about my body,” says the global development manager for a local scuba diving equipment company.
So Lally turned to cardiologist Samir Damani, who runs MD Revolution in La Jolla, a 21st-century medical practice specializing in genetic counseling.
Damani closely examined data from Lally’s DNA to see what genetic factors might impact his health, and set up a diet and exercise plan that fit his profile, as well as what he needs to look out for, such as various cancers and cardiovascular diseases.
“This is the way that medicine is going to be practiced in the future,” said Dr. Damani, who does take insurance and the cost of the programs is customized to the individuals’ needs.
DNA’s now big business, to say the least, and the concentration of both basic research and commercialization of that research has made San Diego the DNA capital of the world.
The region becoming the hub of the lucrative activity surrounding DNA, from research to manufacturing to patient care in the doctor’s office, should come as no surprise to local residents.
Indeed, BIOCOM, the local life sciences trade group, says the life sciences sector (which includes all the activity surrounding DNA R&D) accounts for more than 106,000 direct and indirect jobs, and pumps more than $12 billion annually into the local economy.
It all starts with research, which is where San Diego has a notable leg up on the rest of the planet.
San Diego serves as the home base for DNA pioneer Craig Venter, who was the first to sequence the human genome back in 2001, beating the lumbering Human Genome Project to the punch.
The rugged, 60-something Venter heads the eponymous nonprofit J. Craig Venter Institute, with 300 employees in La Jolla (and Rockville, Maryland), which will be moving its local operations to a more expansive 45,000-square-foot laboratory on the UCSD campus when construction is completed in 2013.
It’s become one of the go-to places for the latest research into the mysteries of the human genome.
Venter is also CEO at Synthetic Genomics Inc., the La Jolla-based privately held startup that is trying to create synthetic genes that can be put into industrial production to make such things as biofuels.
But that’s just the beginning.
Public company Illumina, Inc. is one of the global giants of the burgeoning DNA sequencing industry.
The San Diego company’s HiSeq brand machines have proven popular with government and academic research scientists as well as with commercial researchers, such as those in the pharmaceutical industry, and the company is working in a number of areas ranging from domestic plant research to farm animals.
The company is locked in a head-to-head market battle with Carlsbad-based Life Technologies Corporation for low-end ($125,000 or less) tabletop machines that can sequence important portions of a genome.
Life Technologies says it will start shipping its low-end sequencing competition later this year, which means that small clinics and laboratories will be able to afford such devices.
Indeed, such price drops puts the technology within reach of just about anyone who wants to know what they’re made of, at least big chunks of it.
Privately held BioNanomatrix Inc., which moved to San Diego from Philadelphia last year, has been on a five-year quest for the Holy Grail of genomics research: the ability to sequence the human genome for $100 or less in eight hours or less.
The company was on Technology Review magazine’s 2009 list of 10 emerging technologies that promise to change the way we live and do business.
Damani takes saliva samples from his inquisitive patients like Lally and sends them to one of two genetic testing laboratories he’s working with, Sorrento Valley’s Pathway Genomics Corporation, launched in 2009, or La Jolla’s Cypher Genomics Inc., spun off from the Scripps Health system last year.
The two labs then use saliva samples to peer into a patient’s DNA to determine such factors as propensity for certain diseases or how one responds to certain medications, or whether young couples are carriers of crippling genetic conditions that could show up in their offspring.
Other labs in the region offer similar services.
To be sure, critics say DNA testing is not quite ready for prime time. They argue the results are too imprecise, and can’t predict a person’s future health condition.
But Pathway Genomics founder and CEO James Plante says the tests can tell whether a patient is at a higher risk or lower risk for a wide variety of ailments, which is important data to have in someone’s medical record.
“It’s going to be in everyone’s medical record in the future,” he says.
Plante says growing demand will help keep San Diego in the forefront of DNA research and commercialization for years to come, and bolster its fast-growing reputation in the new field of health informatics.
“We’re just in the beginning stages,” he says. “The industry has lots of room to grow, and San Diego is sure to grow with it.”
Citation: YORK, T. (2012, May). It’s in the genes . Retrieved from http://www.sandiegomagazine.com/San-Diego-Magazine/May-2012/Its-in-the-Genes/
Genetic testing on the edge of a major BOOM
Millions of people, from cancer patients to would-be parents, have tapped into these tests to reveal what is making them sick or could sicken their children.
Two-thirds of doctors report that the technology has helped them identify diseases they couldn’t have identified otherwise, according to a survey commissioned by health care giant UnitedHealth Group. The survey is part of a study that concludes that a $5 billion-a-year market in genetic testing is poised to mushroom to $15 billion to $25 billion within a decade.
“Genetic science offers unprecedented potential to prevent disease and improve diagnosis and treatment, ushering in an era of truly personalized care,” Simon Stevens, UnitedHealth’s executive vice president, said in a prepared statement.
Local doctors and other health care professionals echo that sentiment, saying they have seen the benefits of genetic testing firsthand and are eager to see more breakthroughs.
But they also note the concerns, mapped out in the study, that come with this explosion of knowledge and possibilities:
- Gathering enough genetic information to create personalized treatments that work, and making sure doctors know about them.
- Ensuring patient privacy and preventing genetic discrimination.
- Addressing the potential for skyrocketing health care costs.
Testing related to cancer
Genetic testing is commonly used two ways: to determine a person’s predisposition to disease from the womb to adulthood, and to fine-tune treatment of an existing ailment based on the disease’s genetics.
In the survey, more than two-thirds of doctors reported recommending genetic testing related to cancer.
Until recently, what we knew about a person’s cancer came from what could be seen under a microscope and inferred from family history. Chemotherapy was typically the blanket attack, but it can cost up to $100,000 a year and is not necessarily effective.
“For solid tumors, the likelihood of actually shrinking the tumor with standard chemotherapy is less than 50 percent,” said Dr. Robert Green, an oncologist with the Palm Beach Cancer Institute in West Palm Beach.
But in recent years, genetic testing has delivered information about various cancer mutations. Scientists have used that information to find treatments to target them.
“If someone comes to me with a new diagnosis of lung cancer, I will now always send them for testing for certain mutations because there’s a drug out there,” Green said. “For melanoma, you never checked before and now you do it on everyone.”
There’s still a long way to go, Green and others caution.
Even if a genetic test can spot a disease, a treatment may not be available. According to the UnitedHealth Group study, scientists have come up with more than 1,000 tests for about 2,500 conditions, but only 400 of those tests have proven treatments.
Prenatal, newborn tests
Not everyone is looking to treat an existing illness. Nearly half the doctors surveyed reported recommending tests for expectant parents and newborns.
“The technology has just changed so much,” said Dr. Danielle Esters, a clinical geneticist at the Maternal Fetal Center in Wellington.
Doctors can test for more diseases and do it earlier. Detection rates for diseases such as spina bifida, Down syndrome and cystic fibrosis have increased sharply. Testing for other disorders such as Fragile X, a leading genetic cause for mental retardation and one cause of autism, are now available, Esters said.
Some adults are tipped off early about the need to test a fetus. In some cases, they choose not to become parents.
“People have the impression we’re doing prenatal screening and if things aren’t right, we’re going to have an abortion, but that’s not always true,” said Esters, who estimated that about half of her patients go that route. “A lot of patients continue with the pregnancy, but it’s important they know. They can start putting their ducks in order with their family, their doctors, support groups.”
The genetic test that most women have heard about is one that can identify a hereditary form of breast cancer - the test for mutations in the so-called BRCA genes. Mutations in those genes also can lead to increased risk of ovarian cancer.
“I have practiced oncology for 25 years as a nurse and this has made a difference,” said Robin Stevens, who counsels patients at the Palm Beach Cancer Institute. “It is providing answers. It also offers an opportunity for prevention.”
But the discovery highlights both the upside and downside of genetic testing.
With this information, millions of women with a family history of breast and ovarian cancer now can point to its cause. They can be tested and make medical decisions accordingly, such as whether to have their ovaries removed after bearing children, whether to avoid hormone therapy or remove breast tissue before cancer develops. had died of breast cancer at 33, but it wasn’t until her older sister developed cancer and subsequently tested positive for a BRCA mutation that she realized her own health could be in danger. A genetic test confirmed it.
Shainman, at the time a 40-year-old mother of two, chose to have a hysterectomy and surgical removal of her breast tissue.
“I still am constantly checking and feeling, but I’m relieved,” she said, adding that her chances of getting breast cancer “went from potentially 87 percent down to 3 percent. And I won’t get, or die from, ovarian cancer.”
Each year, about 200,000 women in the U.S. are diagnosed with breast cancer. The National Cancer Institute reports that the hereditary form, which ran in Shainman’s family, accounts for 5 percent to 10 percent of cases.
Also, the cost to test the BRCA genes can be steep - $3,400 or more. Only one company does the testing.
Health care spending
The UnitedHealth study indicates that nearly two-thirds of doctors surveyed believe the surge in testing would increase spending on health care. The company’s analysis of its own claims indicates that its genetic testing costs increased by 14 percent from 2008 to 2010.
The study also concludes that more Americans need to be tested. The more data collected, the easier it will be for researchers to create effective treatments.
“In order to understand what’s going to work for which patients, you need to study patients,” said Dr. William Dalton, chief executive of Moffitt Cancer Center and Research Institute in Tampa. “I’m talking hundreds of thousands of patients.”
Six years ago, Moffitt began collecting genetic data on six of the most common cancers and following patients and their cancers through their lifetime. The center collects data at 18 sites in 10 states and now has information from 86,000 patients, Dalton said.
“This is something that must continue to grow,” he said. “Now we are getting information and beginning to be able to predict who is responding to what.”
Finally, people must keep in mind that having a genetic predisposition to a disease is not the same as having the disease. There’s an entire branch of science that studies what turns on a gene.
Ensuring that patients who get tested are properly counseled promises to be another challenge.
By the study’s count, only 3,000 clinicians and 1,400 physicians in the U.S. are board-certified to conduct genetic counseling.
“While genetics are incredible, and that’s what I do, I think anybody who thinks this is the end-all, be-all and the answer to all men’s ills is wrong,” Dalton said.
“A major cause of cancer is still cigarettes. It causes not only lung cancer, but bladder cancer and others as well. And then there’s obesity. All those things can be controlled in other ways.”
Source: Isger, S. (2012, April 6). Genetic testing on brink of boom . Retrieved from http://www.wptv.com/dpp/news/science_tech/genetic-testing-on-brink-of-boom Read more: http://www.wptv.com/dpp/news/science_tech/genetic-testing-on-brink-of-boom#ixzz1rZtdfkYG
Autism Linked to Inherited Gene Mutations, Particularly From Dad
He showed emotion. He showed affection toward her. That wouldn’t be possible for someone with autism, Gray believed.
“I didn’t understand what autism was and the vast spectrum of the disorder,” said Gray, who blogs for Babble.com, a Disney-owned online parenting magazine (Disney is also the parent company of ABC News). “I got him evaluated because I didn’t want to be seen as a mom in denial.”
Gray’s son was diagnosed with Asperger’s syndrome — a higher functioning form of autism — at age 4. In hindsight, Gray said she could see how his symptoms progressed until his diagnosis, and his diagnosis prompted her to have her daughter tested too. Two years later, in January 2012, her daughter, now 10 years old, received the same diagnosis as her brother.
The latest statistics released by the U.S. Centers for Disease Control and Prevention estimate that autism spectrum disorder increased by 23 percent from 2006 to 2008 to include nearly one in 88 children.
Experts said the growing numbers reflect an all-encompassing disorder that just as often includes children who speak or don’t speak, make eye or don’t make eye contact, recognize their names or not.
While experts remain perplexed about what causes autism, Gray said for her kids, she knew the answer.
“In our case, it’s so clearly genetic,” she said, even though medical experts cannot yet confirm the exact cause of any autism diagnosis. “There’s no doubt in my mind.”
And many scientists agree that the growing autism numbers may in part be attributed to certain genetic mutations that are most likely inherited from the father, according to the combined findings of three studies published Wednesday in the journal Nature.
The studies are the largest to date to use whole-exome sequencing, which decodes the protein in both children and their parents, an arguably more precise method of detecting genetic mutations in multiple genes that may be associated with autism.
The findings from one of the studies supports mounting evidence suggesting that the older the father, the higher the chance the child may develop some form of autism.
In another study, researchers who compared siblings with and without autism found that the sibling with autism had two different mutations of the gene SCN2A.
Genetic mutations found in the child with autism that were not found in either parent are likely not associated with autism, one of the studies concluded.
But these findings further suggest that autism is a genetically complex disease, Dr. Daniel Geshwind, a professor of neurology and psychiatry at UCLA, told ABCNews.com. Several genes contribute, as the average risk imparted by one mutation is typically not enough.
There are currently upward of 1,000 genes that seem to play some role in autism, but it’s still not clear exactly what that role is.
“The genes highlighted are clearly the most convincing susceptibility genes that have been identified so far, but they only explain a small picture of autism,” said Dr. Mark Daly, chief of the analytic and translational genetics at Massachusetts General Hospital, and co-author of one of the studies.
At least 14 to 15 percent of children with autism will have some form of these identified gene mutations, said Geshwind.
But the findings won’t necessarily tell parents much. While having the mutation may increase the risk of autism, it doesn’t necessarily mean the child will develop the disorder. The findings also can’t tell researchers how severe a child’s autism will be.
“We are far from the point where there’s predictive information,” said Daly.
“This shows that we are making a lot of progress in identifying the causes of autism,” said Geshwind, who believes more genes associated with autism, and what they mean, are yet to be discovered.
“Genetics is here,” said Geshwind, “and it’s going to be clinically relevant very soon.”
Citation:
SALAHI, L. (2012, April 4). Autism linked to inherited gene mutations, particularly from dad. Retrieved from http://abcnews.go.com/Health/Autism/family-inherited-gene-mutations-linked-au…
How Exercise Can Change Your DNA
Scientists discover that physical activity leads to beneficial changes in gene activity, even after a single workout.
Exercise does a lot of good things — it burns calories, helps keep your weight in check and lowers your risk of heart disease, stroke and diabetes. Now add one more thing to the list: physical activity can change your DNA.
Unlike the aberrations and genetic mutations caused by carcinogens and toxins, exercise-induced alterations to DNA are more like tune-ups, helping muscles to work better and more efficiently. What’s more, these changes occur even after a single 20-minute workout.
Juleen Zierath, a professor of physiology at the Karolinska Institute in Stockholm, reports with her colleagues in the journal Cell Metabolism about these very early changes that muscle cells undergo the first time you get off the couch and into the gym. The researchers worked with a group of 14 young men and women who were relatively sedentary, and asked them to work out on an exercise bike that measured their maximum activity levels. The participants also volunteered to give up a little bit of muscle, from their quadriceps, in a relatively painless biopsy procedure performed under local anesthesia. The researchers took the biopsy of muscle cells once before the participants exercised, and again within 20 minutes afterward.
Using the biopsied samples, researchers compared the activity in a series of muscle-related genes before and after exercise. More genes were turned on in the cells taken after the exercise and the participants’ DNA showed less methylation, a molecular process in which chemicals called methyl groups settle on the DNA and limit the cell’s ability to access, or switch on, certain genes. By controlling how much methylation goes on in certain cells at specific times, the body regulates which genes in the DNA are activated — that’s what differentiates the development of an an eye cell, for example, from that of a liver cell.
Methylation also helps to prime muscle cells for a bout of exercise, getting them to pump out the right enzymes and nutrients the muscle needs to get energy and burn calories while you’re pounding the pavement during that mile-long jog. “We are trying to get at the early messages that the muscle is [receiving in order] to say, ‘Something is happening here, we need to coordinate so we can get more enzymes and more machinery on board so we can cope with the demands of this exercise,’” says Zierath.
The more intense the exercise, she says, the more the methyl groups are on the move. She and her team were able to see this firsthand by comparing gene activity in participants who also agreed to exercise at two different intensities over a period of a week. On one visit, they were asked to cycle until they reached 40% of their maximum capacity; on another occasion, they biked until they reached 80% of their maximum. The muscle biopsies following the 80% sessions showed a lower concentration of methyl groups — and therefore more RNA, which is the first byproduct of gene activity — than samples taken after the 40% sessions.
To confirm the role of exercise on gene expression in muscle, the scientists then studied how calcium affected the entire system. When muscle cells start to gear up for intense activity like exercise, they release calcium, which fuels the contraction process. When the scientists blocked calcium production, the effect disappeared, and the muscles didn’t contract as much.
That’s when Zierath threw in some coffee — or more specifically, caffeine. Caffeine triggers the release of calcium, and can enhance the way methyl groups move aside to turn on the genes that help muscles contract. When she added caffeine to a lab dish containing cells from the leg muscles of rats, the muscle cells showed lower concentrations of methyl groups and more mRNA — a similar effect as seen after exercise — as she expected.
But, says Zierath, that doesn’t mean you can skip the workout for a cup of coffee instead. “Most of the physiological effect of the caffeine we drink is on the central nervous system, and not dispersed to all the muscles,” she says. “In order to get the same kind of effect we saw in the cells, you would have to drink 50 cups of coffee a day, which is close to the lethal dose. In my mind, half an hour of moderately high intensity exercise is sufficient to do the same thing.”
Alice Park is a writer at TIME. Find her on Twitter at @aliceparkny . You can also continue the discussion on TIME’s Facebook page and on Twitter at @TIME.
source: healthland.time.com/2012/03/07/how-exercise-can-change-your-dna/?iid=hl-main-lede?xid%3Dgonewsedit&google_editors_picks=true
Thermogenic thin? See how they act in the body (Brazil)
Some people attend gyms, play sports or run in parks during the week but, on reaching the end of the month in the balance the result is almost nil. So, ads appear miracle products that help burn more calories during exercise and lost several pounds in a short period of time: the thermogenic. The public relies on these substances, and are not miraculous, can bring serious risks to health.
“The friend arrives, says he took pills and lost weight so many pounds, then purchase and the other begins to take. But her friend Malhou like crazy, so lost and the other not,” exemplified the endocrinologist Tertius Rock. According to him, the products sold thermogenic promises which can not meet, for example, elimination of fa
t. “The thermogenic increases the ability to shed calories and raises the temperature inside the body,” defined the professional.
The problem begins when, while using the product, the result is not obtained. “Without exercise, thermogenic not help,” said Rocha. Then one increases the dose and is subject to tachycardia, hypertension, stroke, mood changes, insomnia, anxiety, shortness of breath, liver problems and kidney complications in the lungs and heart failure, according to the endocrinologist.
The main substance is thermogenic ephedrine - banned in Brazil and the U.S. - according to the department chair of obesity of the Brazilian Society of Endocrinology and Metabolism, Rosana Radominski. In Brazil, the supplements are made from caffeine, she said. However, unlike ephedrine and amphetamine - which affects more aggressive - the body adapts easily to caffeine, so it ceases to increase caloric expenditure in the body.
Action in the body
The thermogeni
c increase body temperature and heartbeat, which gives more energy and willingness to perform physical activities. “The person becomes agitated,” said Rosana. The blood circulates in higher speed occurs in the body and dilation of the veins. However, Rosana said that the amount of thermogenic substances in supplements is settled below the required weight loss.
“Ephedrine help you lose weight if ingested in high doses, but there are risks,” she said. Thus, the effect of these products is like a placebo, said endocrinologist. The same applies to supplements based on L-Carnitine and Taurine - amino acids already produced by the body. “They also do not increase energy expenditure and not help with weight loss,” said Rosana.
According to the trainer Bruno Franco, the thermogenic based on ephedrine and amphetamine have a more rapid effect, however, sold today made with licit substances, do not cut either end. “The levels of taurine and caffeine are low, so very little thermogenic increase caloric expenditure,” he said. Increasing the dosage to compensate for the concentration of the substance is a high risk to health, it warned.
The thermogenic not addictive, because instead of “please” the brain, causing irritation, explained the endocrinologist. “One can only feel tired if you stop taking,” she said. The professional said that “there is no drug without side effects.” For her, one must consider the risks versus the benefits. In the case of thermogenic, “the loss of does not exceed 2kg everything to cause the substance in the body.”
Healthy Weight Loss
A study conducted by U.S. colleges UCLA, Stanford and Harvard found that by passing an examination in saliva is possible to trace the exercises and diet ideal for a particular individual. Known as Pathway Fit, “the review is to analyze the genotype and shows the right path to better fitness,” said Tertius Rock endocrinologist.
He said research shows that diet made based on the outcome of the Fit Pathway provides a weight loss 3.2 times more intense than ordinary (not based on genetic information). The analysis also indicates the years and the most appropriate according to rock, it is possible gain of 1.8 times more activity in certain muscles. In Brazil, the test is called the genomic landscape and is done in major laboratories in the country “The result is ready in 30 days and the person takes you to a nutritionist and a personal trainer,” added the trader.
Although the thermogenic supplements are not recommended, coffee, guarana, white tea, cinnamon, ginger - all thermogenic - can be beneficial when consumed in balanced doses. The foods listed do not guarantee weight loss, but provide energy for exercise, according to endocrinologist Tertius Rock.
The tip of the personal trainer Bruno Franco is feeding at short intervals during the day. “When you go too long without eating, the body enters a stage of saving calories. If a person eats every two hours, the body releases more calories, because he knows that soon they will be restored,” he said. The method helps speed up metabolism.
PGen study to examine impact of consumer genomics
[[posterous-content:pid___0]]Surveys will be distributed to consumers of personal genomic services
As genetic risk information plays an increasingly important role in the diagnosis and treatment of many diseases, private companies have made personal genomic testing for these risk factors widely available to the public. However, very little data has been gathered to understand the motivations and expectations of consumers of personal genomic services, the psychological and behavioral impact of these services, and the associated ethical, legal and social issues-until now. The Impact of Personal Genomics(PGen) Study, one of the first major studies to prospectively examine the impact of consumer genomics, is prepared to launch its data collection phase.
With funding from the National Human Genome Research Institute, joint Principal Investigators Robert C. Green, MD, MPH of Brigham and Women’s Hospital and Harvard Medical School and J. Scott Roberts, PhD of the University of Michigan School of Public Health teamed up with leading personal genome testing companies 23andMe and Pathway Genomics Corporation to launch PGen.
“The goal is to produce results that can be translated into recommendations to guide policy and practice in this rapidly emerging area,” said Green.
The group leading PGen will survey consumers of personal genome testing to identify their motivations, expectations, and attitudes, as well as their responses to learning their genetic disease risk, carrier status, and drug response results.
PGen is set to launch with the distribution of surveys to new consumers of personal genomic services. PGen will enroll 1,000 participants in all: 500 customers of Pathway Genomics and 500 customers of 23andMe. Researchers will then be able to compare survey responses to the genetic results, providing unique insight into the risks and benefits of personal genomic services.
“There has been considerable speculation, but not a lot of data, to inform the debate about the possible benefits and harms of personal genomics services,” says Roberts. “We hope that our study will help to bridge this evidence gap.”
To carry out the research, Green and Roberts assembled an interdisciplinary team of experts with backgrounds in medicine, genetics, genetic testing policy and practice, health communication, genetic counseling, health psychology, health law, bioethics and web survey design, many of whom have worked together on related prior research.
At the end of the project, the PGen team expects to understand: (1) who seeks personal genomic testing and why; (2) the impact of test results on psychological response, risk perception and comprehension, and personal utility; and (3) what consumers do with their genetic information (i.e. make health behavior or insurance changes, seek further information or communicate with family and health care providers).
source hxxp://www.news-medical.net/news/20120305/PGen-study-to-examine-impact-of-consumer-genomics.aspx
photo credit: http://topnews.in/health/files/Genomics.jpg
