(Press-News.org) WASHINGTON, DC—Orthopaedic surgeons from Children's National Medical Center are part of a team of researchers that has identified the genetic mutation causing Proteus syndrome, a rare disorder in which tissue and bone grow massively out of proportion. The discovery appears in the July 27, 2011, online edition of the New England Journal of Medicine. The study, led by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), may have larger implications in both the identification and treatment of Proteus syndrome, as well as for certain types of cancer.
The NIH-based research team found that a point mutation — a single-letter misspelling in the DNA of the genetic code — in the AKT1 gene activates the sporadic tissue growth associated with Proteus syndrome. This particular genetic mutation in AKT1 is almost always undetectable in simple blood samples, making it necessary for surgical teams to collect and contribute deep tissues, including bone, cartilage, and growth plates, while patients with Proteus syndrome are undergoing necessary surgical procedures as part of their standard care.
"Proteus syndrome is an extremely rare disorder, making tissue sample collection especially challenging," said Laura L. Tosi, MD, of the Division of Orthopaedic Surgery and Sports Medicine at Children's National. "Given the importance of this research, we stepped up to the plate and, over the last decade, Children's National surgeons have collected more than one third of the study's tissue samples while Proteus syndrome patients underwent necessary procedures here at Children's National and at NIH."
Dr. Tosi, as well as the Chief of Orthopaedics and Sports Medicine, Laurel Blakemore, MD, and Kurt D. Newman, MD, Senior Vice President of the Joseph E. Robert, Jr., Center for Surgical Care, contributed tissue samples from Proteus patients treated at Children's National to help fuel the NIH-based genetic research.
"Proteus syndrome can be a complex disease to treat, as it manifests differently in every patient," said Dr. Blakemore. "It is our job to treat the needs of our patients with complex spine and bone disorders, and also contribute our knowledge and expertise in caring for these children to studies, like this one, that aim to identify the causes, and hopefully, one day, find a cure."
The gene variant that triggers Proteus occurs spontaneously in affected individuals during embryonic development, but symptoms only appear in the child's first two years. This mutation in AKT1 alters the ability of affected cells to regulate their own growth, leading some parts of the patient's body to grow to abnormal sizes, while other parts of the body remain normal.
Clinical diagnosis is typically based on the observation of patient features, which include limb overgrowth, a variety of skin lesions, and thickening of the soles of the feet. A well known unconfirmed case of Proteus syndrome gained attention in 1980 through the movie "The Elephant Man," about a 19th century Londoner, Joseph Merrick, whom experts believe may have suffered from the disease.
"Children's National has a vision that surgery might be less painful and more precise for pediatric patients, especially those who require multiple surgeries and lifelong support, as in the case of Proteus syndrome," said Dr. Newman, who was recently named the incoming president and CEO of Children's National. "This study and similar studies underway in systems biology programs around the world, including our own Sheikh Zayed Institute for Pediatric Surgical Innovation, all share one common goal: identifying these disorders and their causes as early as possible and finding better treatments."
###
Contact Emily Dammeyer or Jennifer Stinebiser at 202-476-4500.
About Children's National Medical Center:
Children's National Medical Center in Washington, DC, has been serving the nation's children since 1870. Home to Children's Research Institute and the Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National is consistently ranked among the top pediatric hospitals by U.S.News & World Report and the Leapfrog Group. With 283 beds, more than 1,330 nurses, 550 physicians, and seven regional outpatient centers, Children's National is the only exclusive provider of acute pediatric services in the Washington metropolitan area. Children's National has been recognized by the American Nurses Credentialing Center as a Magnet® designated hospital, the highest level of recognition for nursing excellence that a medical center can achieve. For more information, visit ChildrensNational.org, receive the latest news from the Children's National press room, or follow us Facebook and Twitter.
END
Atlanta's Hartsfield-Jackson International Airport (ATL), one of the world's busiest international airports is also the most fiscally efficient, says an aviation think-tank based at the University of British Columbia's Sauder School of Business.
ATL generated 60 per cent of its total revenue from non-aviation activities, compared to the lowest-ranked North American airport Chicago's O'Hare International Airport (ORD), which derived only 34 per cent of its income from alternative sources.
The Air Transport Research Society (ATRS), headquartered at Sauder, has released ...
Algae-based fuel is one of many options among the array of possible future energy sources. New University of Virginia research shows that while algae-based transportation fuels produce high energy output with minimal land use, their production could come with significant environmental burdens.
For farmers looking to maximize profits, algae would produce considerably more transportation energy than canola and switch grass for every hectare planted, and can also be grown on poor-quality marginal land that cannot be easily used to grow food crops such as corn, according ...
CHICAGO --- Being physically active is one of best ways people with arthritis can improve their health, but a new study from Northwestern University Feinberg School of Medicine shows that more than half of women and 40 percent of men with arthritis are virtually couch potatoes.
This is the first study to use a device to objectively measure the physical activity of people with arthritis and determine if they meet federal guidelines. Past research relied on self-reported accounts of exercise and activity.
The study was published in Arthritis & Rheumatism, August 2011.
Researchers ...
This release is available in French.
Dr. John Rioux, researcher at the Montreal Heart Institute, Associate Professor of Medicine at the Université de Montréal and original co-founder of the International Multiple Sclerosis Genetics Consortium is one of the scientists who have identified 29 new genetic variants linked to multiple sclerosis, providing key insights into the biology of a very debilitating neurological disease. Many of the genes implicated in the study are relevant to the immune system, shedding light onto the immunological pathways that underlie the development ...
A UCSF-led pilot study in San Francisco has found the highest levels ever reported among pregnant women worldwide of banned chemicals used in flame retardants, a likely result, they believe, of California's strict flammability regulations.
Polybrominated diphenyl ethers (PBDEs) were added to consumer products, such as electronics and foam in furniture beginning in the 1970s. The chemicals slow ignition and the rate at which a fire grows, according to the US Environmental Protection Agency (EPA).
Tests indicate that these chemicals may cause liver, thyroid, and neurodevelopmental ...
Biologists and psychologists know that light affects mood, but a new University of Virginia study indicates that light may also play a role in modulating fear and anxiety.
Psychologist Brian Wiltgen and biologists Ignacio Provencio and Daniel Warthen of U.Va.'s College of Arts & Sciences worked together to combine studies of fear with research on how light affects physiology and behavior.
Using mice as models, they learned that intense light enhances fear or anxiety in mice, which are nocturnal, in much the same way that darkness can intensify fear or anxiety in diurnal ...
URBANA – Dieting postmenopausal women who want to avoid losing muscle as they lose fat should pay attention to a new University of Illinois study. Adding protein throughout the day not only holds hunger pangs at bay so that dieters lose more weight, it keeps body composition—the amount of fat relative to muscle—in better proportion.
"A higher-protein weight-loss diet is more protective of muscle," said Ellen Evans, a former U of I associate professor of kinesiology and community health and member of the university's Division of Nutritional Sciences.
Scientists in Evans's ...
DALLAS – Aug. 10, 2011 – People who frequently use tanning beds may be spurred by an addictive neurological reward-and-reinforcement trigger, researchers at UT Southwestern Medical Center have found in a pilot study.
This could explain why some people continue to use tanning beds despite the increased risk of developing melanoma, the most lethal form of skin cancer. The brain activity and corresponding blood flow tracked by UT Southwestern scientists involved in the study is similar to that seen in people addicted to drugs and alcohol.
"Using tanning beds has rewarding ...
PHILADELPHIA—Pancreatic cancer researchers at Thomas Jefferson University have shown, for the first time, that blocking a receptor of a key hormone in the renin-angiotensin system (RAS) reduces cancer cell growth by activating the enzyme AMPK to inhibit fatty acid synthase, the ingredients to support cell division.
With that, a new chemopreventive agent that inhibits the angiotensin II type 2 receptor—never before thought to play a role in tumor growth—could be developed to help treat one of the fastest-moving cancers that has a 5-year survival rate of only 5 percent.
Hwyda ...
Reaching a new threshold in underwater medical studies, the Office of Naval Research (ONR), today announced a novel capability for examining how cells work at pressures far below the sea surface.
Researchers at the Navy Experimental Diving Unit (NEDU) have designed, built and validated a novel hyperbaric environment to study cellular behavior at greater depths. The joint ONR-NEDU effort is designed to explore advances to protect Navy divers working at depths of up to 1,000 feet.
"This is a huge leap forward in our ability to understand cellular function at pressurized ...
