Navigation Links
Children's National collaborates with NIH researchers to identify gene variant in Proteus syndrome
Date:8/10/2011

WASHINGTON, DCOrthopaedic 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
edammeye@childrensnational.org
202-476-4500
Children's National Medical Center
Source:Eurekalert

Related medicine news :

1. Parents Want Electronic Access to Their Childrens Docs: Survey
2. Researcher at Childrens Hospital LA discovers way to overcome radiation resistance in leukemia
3. NationalCreditReport.com Reminds Consumers of Ways to Improve Credit Report and Score in 2010
4. The National Coalition for Cancer Survivorship Joins the Commission on Cancer
5. National Wildlife Federation Says Outdoor Time for Kids Can Help First Lady Achieve Her “Let's Move” Goal
6. Howard Dean to Speak at the 2010 DTC National Conference
7. International Diabetes Federation awards $2 million to 9 global diabetes research projects
8. Jion Beijing Great Wall International Travel Agency Immediate Exposure to China Expo 2010
9. U.S. National Guard Connects Nationwide with Desktop Alert's Command and Control Mass Notification Systems and Common Alerting Protocol (CAP)
10. H1N1 international symposium to be hosted by Emory-UGA Influenza Center
11. The Alliance for a Healthier Generation Names Celtics Captain Paul Pierce National Athlete Spokesperson in the Fight Against Childhood Obesity
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2016)... ... ... A recent article published June 14 on E Online details ... to state that individuals are now more comfortable seeking to undergo not only the ... and cheek reduction. The Los Angeles area medical group, Beverly Hills Physicians (BHP) notes ...
(Date:6/24/2016)... ... 2016 , ... June 19, 2016 is World Sickle Cell Observance Day. In ... benefits of holistic treatments, Serenity Recovery Center of Marne, Michigan, has issued ... Sickle Cell Disease (SCD) is a disorder of the red blood cells, which can ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... ... Conference and Scientific Sessions in Dallas that it will receive two significant new ... the grants came as PHA marked its 25th anniversary by recognizing patients, medical ...
(Date:6/24/2016)... ... June 24, 2016 , ... Dr. ... accelerated orthodontic treatment. Dr. Cheng has extensive experience with all areas of orthodontics, ... and accelerated osteogenic orthodontics. , Micro-osteoperforation is a revolutionary adjunct to orthodontic ...
(Date:6/24/2016)... ... June 24, 2016 , ... Topical BioMedics, Inc, makers of Topricin and MyPainAway Pain Relief ... a minimum wage raise to $12 an hour by 2020 and then adjusting it yearly ... lost value of the minimum wage, assure the wage floor does not erode again, and ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... Revolutionary technology includes multi-speaker listening ... industry leaders in advanced audiology and hearing aid technology, ... ™, the world,s first internet connected hearing aid that ...      (Photo: http://photos.prnewswire.com/prnh/20160622/382240 ) , ... ,world firsts,: , TwinLink™ - the first ...
(Date:6/23/2016)... 23, 2016 The vast majority of dialysis ... facility.  Treatments are usually 3 times a week, with ... including travel time, equipment preparation and wait time.  This ... grueling for patients who are elderly and frail.  Many ... and rehabilitation centers for some duration of time. ...
(Date:6/23/2016)... FRANKLIN, Tenn. , June 23, 2016 ... for automating, integrating and transforming the patient ... launch of several innovative new products and ... depth of its revenue cycle offerings. These ... establish more efficient workflows, remain compliant in ...
Breaking Medicine Technology: