The research lead by Dr Rachael Duff from the UWA Centre for Medical Research (CMR) undertook a genetic investigation of a family from Victoria with a new form of distal myopathy (muscle wasting disease). It identified a mutation in the gene encoding the filamin C protein.
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’s 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,” Dr 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 identification of the disease gene in the Victorian family has already lead to the discovery of another family with a mutation in the same gene by collaborators in Italy.
The referral of the family from doctors in Victoria to the neuromuscular diseases group at CMR run by Professor Nigel Laing, and the subsequent discovery of the cause of the disease, further cements the outstanding track record of this research group.