NEW YORK (Reuters Health) - US researchers have identified a new form of muscular dystrophy that involves mutations in ZASP, a protein that binds to structural elements found in cardiac and skeletal muscle.
In mice, targeted deletion of ZASP has been shown to cause skeletal and cardiac myopathy. Moreover, ZASP mutations have been linked to dilated cardiomyopathy in humans.
For these reasons and others, Dr. Duygu Selcen and Dr. Andrew G. Engel, from the Mayo Clinic in Rochester, Minnesota, looked for ZASP mutations in 54 patients with neuromuscular disorders not associated with previously identified mutations.
Three heterozygous missense ZASP mutations were detected in 11 patients, the investigators report in the January 26th online issue of the Annals of Neurology.
Symptoms of the disease were first noted between 44 and 73 years of age and usually involved both proximal and distal weakness. In six patients, the weakness was more pronounced distally than proximally. Three patients had cardiac involvement and five had signs of peripheral neuropathy.
A dominant pattern of inheritance was seen in seven patients, the investigators note.
“The association of mutations in ZASP with a pathologically and clinical progressive myopathy warrants classifying zaspopathy as a muscular dystrophy,” the authors state. “This is consistent with mutations in other sarcomeric proteins, namely myotilin and titin, which causes muscular dystrophy.”
Source: Ann Neurol 2005;57. [ Google search on this article ]
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