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:10/12/2017)... , ... October 12, 2017 , ... ... services for healthcare compliance program management, will showcase a range of technology and ... for Assisted Living (NCAL) Convention and Expo to be held October 14–18, 2017 ...
(Date:10/12/2017)... ... 2017 , ... IsoComforter, Inc. ( https://isocomforter.com ), one of the ... new design of the shoulder pad. The shoulder pad provides optimal support and ... pain while using cold therapy. By utilizing ice and water that is circulated from ...
(Date:10/12/2017)... ... October 12, 2017 , ... Dr. Parsa Mohebi, the Los ... article to the newly revamped Cosmetic Town journal section, featuring articles ... procedure known as Follicular Unit Extraction (FUE). , Dr. Mohebi says ...
(Date:10/12/2017)... , ... October 12, 2017 , ... ... named one of Michigan’s 2017 Best and Brightest in Wellness® by Best and ... Wellness® awards program on Friday, Oct. 20 from 7:30 a.m. to 2 p.m. ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... the University of California Berkeley, and other leading institutions in announcing the launch ... of institutions to change the way animals are raised for food. , Founding ...
Breaking Medicine News(10 mins):
(Date:10/12/2017)... 12, 2017 West Pharmaceutical Services, Inc. ... for injectable drug administration, today announced that it will ... on Thursday, October 26, 2017, and will follow with ... expectations at 9:00 a.m. Eastern Time. To participate on ... The conference ID is 94093362. ...
(Date:10/11/2017)...  Hill-Rom Holdings, Inc. ("Hill-Rom") (NYSE: HRC), today provided ... Piedras, Puerto Rico , where the ... Following a comprehensive onsite ... structural damage, temporary loss of power and minimal water ... manufacturing operations have resumed, and the company expects to ...
(Date:10/5/2017)...  In response to the nationwide opioid epidemic, ... (AAOMS) released prescribing recommendations that urge ibuprofen – ... a first-line therapy to manage a patient,s acute ... Recognizing the value and importance of the ... Acute and Postoperative Pain Management" stresses that practitioners ...
Breaking Medicine Technology: