New Gene for Nemaline Myopathy Identified

A team led by Alan Beggs, an MDA grantee at Children’s Hospital in Boston, in collaboration with researchers in the United Kingdom, Australia and Finland, recently identified a new gene that, when flawed, can cause nemaline myopathy.

Pankaj Agrawal and colleagues, who published their findings in the January 2007 issue of the American Journal of Human Genetics, identified a mutation in the gene for the protein cofilin 2 in two siblings from a Middle Eastern family whose previous diagnosis was a nonspecific congenital muscle disease.

Like the other five genes associated with this disease, the cofilin 2 genes carries instructions for a protein associated with the inside of the muscle fiber, in the area where muscle filaments slide over each other to cause muscle contraction.