AsianScientist (May 27, 2011) – Researchers at The University of Western Australia have discovered a gene mutation in a rare new form of muscle wasting disease that may lead other sufferers to be more accurately diagnosed.
The researchers, lead by Dr. Rachael Duff from the UWA Center for Medical Research (CMR), have identified a mutation in the gene encoding the filamin C protein, after studying a Victorian family with a new form of distal myopathy (muscle wasting disease).
Studies on the effect of the mutation in muscle cells in the laboratory showed the protein interacted and positioned itself in the cell differently when compared to normal muscle cells.
It is the first time this type of muscle disease has been associated with a mutation in the gene for the filamin C protein.
The findings, published in The American Journal of Human Genetics, increases our understanding of normal muscle function whilst providing avenues for the development of genetic counseling and treatment options.
“The finding now allows us to test and potentially provide an accurate diagnosis to many patients with an unknown muscle disease,” Duff said. “In addition, there is now an opportunity for other family members to be screened for their likelihood of developing the condition and passing it on to future generations.”
The article can be found at: Duff RM et al. (2011) Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy.
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Source: Western Australian Institute for Medical Research.
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