While the researchers studied mice, they are now looking for patients who have mutations in this newly discovered muscle gene, Srpk3. Mice that lack the gene have a condition much like the human disease, centronuclear myopathy.
"It's easy to imagine that human patients could have symptoms similar to those we saw in mice," said Dr. Osamu Nakagawa, assistant professor of internal medicine and the paper's lead author. "The human research is just starting, but already we found patients who may have mutations in the gene."
The researchers' work appears in the Sept.1 issue of Genes and Development.
There are several forms of centronuclear myopathy, including one that is apparent at birth. Children with the condition have trouble moving or breathing and often must depend on ventilators. Other forms show up later in life.
"Treatment may be in the far distant future, but I think diagnosis is very important," Dr. Nakagawa said. Knowing the form of the condition could guide treatment, for instance.
Dr. Eric Olson, senior author and chairman of molecular biology, said, "The discovery of this new muscle gene is very exciting because it sheds light on a biochemical process involved in the muscle-wasting disorder centronuclear myopathy. This information represents a first step toward potential therapies to improve muscle function during disease." Dr. Olson directs the Nancy B. and Jake L. Hamon Center for Basic Research in Cancer and the Nearburg Family Center for Basic Research in Pediatric Oncology.
The first stage of the UT Southwestern study involved searching for important muscle genes downstream of muscle-specific gene regulation. Scientists have known that one protein, called MEF2, is essential to the formation of skeletal mu
'"/>
Contact: Aline McKenzie
aline.mckenzie@utsouthwestern.edu
214-648-3404
UT Southwestern Medical Center
31-Aug-2005