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:5/31/2016)... Florida (PRWEB) , ... May 31, 2016 , ... ... Jay Butch of CertainTeed Corporation, he knew it was something that contractors should ... state-of-the-art and cutting-edge as it gets,” says Butch, CertainTeed’s Director of Contractor Programs. ...
(Date:5/31/2016)... ... ... Effective leaders not only drive service to the next level, they also ... Northbound CEO Mike Neatherton and COO Paul Alexander will be taking part in the ... The Journey to Authenticity” with Onsite Workshops CEO Miles Adcock and Vice President of ...
(Date:5/31/2016)... Francisco, CA (PRWEB) , ... May 31, 2016 , ... ... cases for digital-minded professionals, announces the waxed-canvas and leather Duo Dopp Kit , ... durable waxed canvas or ballistic nylon, the Duo is smartly designed for ...
(Date:5/31/2016)... ... May 31, 2016 , ... Interest is on the rise for ... as an orthogonal tool for RNAi hit validation. A key reason may be that ... rapid generation of CRISPR RNA (crRNA) collections in arrayed formats. , Arrayed ...
(Date:5/31/2016)... ... 31, 2016 , ... MinerEye today announced that it has ... report by Gartner1 Inc. , Each year, Gartner identifies new Cool Vendors in ... vendors and their products and services. , According to Gartner, “Gartner's Cool Vendors ...
Breaking Medicine News(10 mins):
(Date:5/31/2016)... 2016 194 Mitgliedsstaaten ... Eliminierung von viraler Hepatitis    Am ... eingegangen, virale Hepatitis bis 2030 zu eliminieren. ... Assembly haben sich die Staaten einstimmig dafür entschieden, ... Viral Hepatitis Strategy) zu verabschieden, was das bisher ...
(Date:5/30/2016)... ALBANY, New York , May 30, 2016 /PRNewswire/ ... new market report titled, "Advanced (3D/4D) Visualization Systems Market ... Forecast 2016 - 2024." According to the report, the ... US$ 1.8 Bn in 2015 and is anticipated to ... 2024 to reach US$ 3.2 Bn in 2024. ...
(Date:5/30/2016)... According to a new ... by Type (Stability, Raw Materials, Method Validation, Microbial, ... Companies, Medical Device Companies) - Global Forecast to ... growth during the last decade and is expected ... 2016 and 2021 to reach USD 4.13 Billion ...
Breaking Medicine Technology: