New gene linked to muscular dystrophy

Aug 10, 2009

Muscular dystrophy, a group of inherited diseases characterized by progressive skeletal muscle weakness, can be caused by mutations in any one of a number of genes. Another gene can now be added to this list, as Yukiko Hayashi and colleagues, at the National Center of Neurology and Psychiatry, Japan, have now identified mutations in a gene not previously linked to muscular dystrophy as causative of a form of the disease in five nonconsanguineous Japanese patients.

Mutations in the caveolin-3 gene have previously been linked to .

In this study, the authors identified five nonconsanguineous Japanese patients with muscular dystrophy and degeneration of their fat tissue (a condition known as lipodystrophy) whose muscles were deficient in caveolin-3 protein in the absence of in their caveolin-3 gene. Detailed genetic analysis revealed that these individuals had mutations in their PTRF gene, which is responsible for making a protein thought to influence caveolin protein stabilization.

Further investigation confirmed this as a function for the PTRF , as the mutated forms of the PTRF gene generated mutant PTRF proteins that could not localize correctly or associate with caveolin proteins. The authors therefore conclude that disease in the five patients studied is likely to be a result of caveolin deficiencies secondary to the PTRF gene mutations.

More information: Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy, Journal of Clinical Investigation.

Source: Journal of Clinical Investigation

Explore further: Could ibuprofen be an anti-aging medicine? Popular over-the counter drug extends lifespan in yeast, worms and flies

add to favorites email to friend print save as pdf

Related Stories

Potential therapy for congenital muscular dystrophy

Dec 30, 2008

Current research suggests laminin, a protein that helps cells stick together, may lead to enhanced muscle repair in muscular dystrophy. The related report by Rooney et al, "Laminin-111 restores regenerative capacity in a ...

Researchers develop mouse model for muscle disease

Sep 05, 2006

Researchers from the University of Minnesota have identified the importance of a gene critical to normal muscle function, resulting in a new mouse model for a poorly understood muscle disease in humans.

Faulty cell membrane repair causes heart disease

Jul 03, 2007

During vigorous exercise, heart muscle cells take a beating. In fact, some of those cells rupture, and if not for a repair process capable of resealing cell membranes, those cells would die and cause heart damage (cardiomyopathy).

Recommended for you

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.