Navigation Links
Pitt researchers discover gene mutation linked to lymphatic dysfunction
Date:5/27/2010

PITTSBURGH, May 27 A genetic mutation for inherited lymphedema associated with lymphatic function has been discovered that could help create new treatments for the condition, say researchers at the University of Pittsburgh Graduate School of Public Health. Their findings are reported in the June issue of the American Journal of Human Genetics.

Lymphedema, the swelling of body tissues caused by an accumulation of fluid in a blocked or damaged lymphatic system, affects more than 120 million people worldwide. The most common treatments are a combination of massage, compression garments or bandaging.

"Lymphedema was first described hundreds of years ago, and yet it remains a very poorly understood disease," said David N. Finegold, M.D., co-principal investigator of the study and professor of human genetics, University of Pittsburgh Graduate School of Public Health. "Unfortunately, there is no drug available to cure or even treat it. Most people with inherited lymphedema suffer their entire lives with treatments that address symptom relief only."

The study is based on the University of Pittsburgh Lymphedema Family Study, which began collecting data from affected families in 1995 to learn more about the risk factors and causes of inherited, or primary, lymphedema.

Previous research has helped identify six genes linked to the development of lymphedema, but until now researchers had no insight into the genetic factors responsible for lymphatic vascular abnormalities.

In their study, Dr. Finegold and colleagues sequenced three genes expressed in families with primary lymphedema. Mutations in one of these genes, GJC2, was found in primary lymphedema families and are likely to impair the ability of cells to push fluid throughout the lymphatic system by interrupting their signaling. Without proper signaling, cell contraction necessary for the movement of fluid did not occur, leading to its accumulation in soft body tissues.

"These results are significant because they give us insight into the cell mechanics that may underlie this condition," said Dr. Finegold. "With further research, we may be able to target this gene with drugs and improve its function."


'/>"/>

Contact: Clare Collins
CollCX@upmc.edu
412-648-9725
University of Pittsburgh Schools of the Health Sciences
Source:Eurekalert

Related medicine news :

1. Researchers validate a new test for assessing childrens and teenagers fitness to prevent morbidity
2. Novel anti-malarial drug candidate found by UT Southwestern researchers
3. Mount Sinai researchers move closer to a universal influenza vaccine
4. MIT researchers develop better way to detect food allergies
5. Crohn's & Colitis Foundation National Event Helping Women Manage Inflammatory Bowel Disease: Two Women Physician Experts and Researchers in IBD on Interactive Webcast/Teleconference
6. Mayo Clinic researchers find gene they believe is key to kidney cancer
7. Researchers get $3.3 million grant to investigate language outcomes of bilingual children
8. Mayo Clinic researchers find genetic secrets to common kidney cancer
9. System that predicts protein structures could help researchers design drugs
10. Australian researchers identify a new disease
11. Researchers define traits associated with prescription drug disorders in a primary care setting
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/25/2016)... ... June 25, 2016 , ... The temporary closing of Bruton Memorial Library on June 21 ... brings up a new, often overlooked aspect of head lice: the parasite’s ability to live ... not a common occurrence, but a necessary one in the event that lice have simply ...
(Date:6/25/2016)... ... ... As a lifelong Southern Californian, Dr. Omkar Marathe earned his Bachelors in ... School of Medicine at UCLA. He trained in Internal Medicine at Scripps Green Hospital ... at the UCLA-Olive View-Cedars Sinai program where he had the opportunity to train in ...
(Date:6/25/2016)... ... 2016 , ... Conventional wisdom preaches the benefits of moderation, whether it’s a ... the bar too high can result in disappointment, perhaps even self-loathing. However, those who ... , Research from PsychTests.com reveals that behind the tendency to set ...
(Date:6/24/2016)... ... June 24, 2016 , ... June 19, 2016 is World Sickle ... chronic pain and the benefits of holistic treatments, Serenity Recovery Center of ... Sickle Cell Disease. , Sickle Cell Disease (SCD) is a disorder of the red ...
(Date:6/24/2016)... ... , ... Global law firm Greenberg Traurig, P.A. announced that 20 Florida attorneys ... peers for this recognition are considered among the top 2 percent of lawyers practicing ... members of this year’s Legal Elite Hall of Fame: Miami Shareholders Mark D. ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... 24, 2016 Dehaier Medical Systems Ltd. (NASDAQ: ... develops, markets and sells medical devices and wearable sleep ... a strategic cooperation agreement with Hongyuan Supply Chain Management ... on June 20, 2016, to develop Dehaier,s new Internet ... agreement, Dehaier will leverage Hongyuan Supply Chain,s sales platform ...
(Date:6/24/2016)... Belgium , June 24, 2016 ... today announced the appointment of Dr. Edward ... as a Non-Executive Director, effective June 23, 2016.Dr. ... Compensation and Nominations and Governance Committees.  As a ... will provide independent expertise and strategic counsel to ...
(Date:6/23/2016)... June 23, 2016 Research and ... Excipients Market by Type (Organic Chemical (Sugar, Petrochemical, Glycerin), ... Topical, Coating, Parenteral) - Global Forecast to 2021" ... The global pharmaceutical excipients market is projected ... CAGR of 6.1% in the forecast period 2016 to ...
Breaking Medicine Technology: