TUESDAY, Aug. 11, 2009 (HealthDay News) -- A new gene mutation linked to muscular dystrophy has been identified by Japanese researchers.
The finding came from genetic analyses of five people with muscular dystrophy and degeneration of their fat tissue, called lipodystrophy. Their muscles were deficient in caveolin-3 protein, but they did not have mutations in the caveolin-3 gene, which have been linked to muscular dystrophy.
The researchers found a mutation in the PTRF gene, which makes a protein believed to influence caveolin protein stabilization. Further investigation showed that the mutated forms of the PTRF gene produced mutant PTRF proteins that could not localize correctly or associate with caveolin proteins.
Based on their findings, the researchers concluded that the muscular dystrophy in the five people they studied was probably the result of caveolin deficiencies secondary to PTRF gene mutations.
The study appears in the current issue of the Journal of Clinical Investigation.
More information
The U.S. National Institute of Neurological Disorders and Stroke has more about muscular dystrophy.
