The following article may store some good news for individuals suffering from rare muscle diseases. Investigators from The University of Western Australia have now laid hands on a gene mutation in a rare new form of muscle wasting disease. The gene mutation in a new form of distal myopathy can possibly assist in the accurate diagnosis of the disease.
Researchers claim to have detected a mutation in the gene encoding the filamin C protein. This novel finding seemingly sheds light on the normal muscle function while also providing avenues for the development of genetic counseling and treatment options. Also other proteins can be screened for figuring out the cause of this condition and its ability to pass onto future generations.
The identification of the disease gene in the Victorian family has also empowered Rachael Duff from the UWA Centre for Medical Research, lead investigator and colleagues to find another family with a mutation in the same gene. The research seems to have great significance in the world of health and medicine. Scientists presume that it can subsequently aid in catching hold of the precise cause of this ailment.
The research is published in The American Journal of Human Genetics.