[MOL] Genetic cause of lymphedema [03083] Medicine On Line

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[MOL] Genetic cause of lymphedema

 Genetic cause of lymphedema discovered by University of Pittsburgh
    researchers reported in Nature Genetics
    [06/29/2000; Eureka News Service]

PITTSBURGH, June 29 -- Clinicians have long puzzled over families
whose members have limbs swollen with lymphatic fluid. Now,
University of Pittsburgh investigators and their collaborators
from the University of Helsinki have pinpointed genetic errors
that account for this disease, hereditary lymphedema. The mutations,
described in the June issue of Nature Genetics, occur in the
gene for vascular endothelial growth factor receptor (VEGFR3).
This cell receptor is critical for the growth of lymph vessels
that are responsible for draining tissues of extracellular fluid.
This new information should enable genetic testing, in addition
to providing a therapeutic target for inherited forms of lymphedema
and for lymphedema that arises from injury, surgery or infection.

"Our work is the first to identify a genetic mutation responsible
for lymphedema," stated David Finegold, M.D., associate professor
of human genetics at the University of Pittsburgh's Graduate
School of Public Health (GSPH).  "This work provides a foundation
for understanding a biological mechanism causal for hereditary
lymphedema and crucial for the normal development of lymph vessels."

The full article can be found at:


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