Muscle Disease Discovery Solves 35-year old Mystery

WA medical researchers have pinpointed two new genetic mutations linked to a devastating muscle disease, and in the process solved a 35-year-old mystery.

In conjunction with scientists in the US and Germany, a team at the Western Australian Institute for Medical Research (WAIMR) has confirmed that mutations in a gene known as MYH7 cause a condition known as myosin storage myopathy.The disorder causes incapacitating muscle weakness in patients.WAIMR Professor Nigel Laing said the finding, published in the international medical journal, Neuromuscular Disorders, has helped deliver answers to families worldwide.Discovering that these mutations are linked to this rare and debilitating disease has allowed us to diagnose the condition in people who until now had no idea what was causing their chronic symptoms, said Professor Laing.Thanks to this breakthrough, we’ve also been able to solve a 35-year-old mystery involving a US family by confirming that two of their children had this disease. We were able to do this by analysing old DNA samples which revealed these children had their mutation in that gene.In diseases such as this, which often run in families, being able to pinpoint the gene or genes linked to the condition means a great deal for future generations who often are worried about whether or not their children may be affected.Professor Laing said the discovery would also help researchers in their quest to find treatments for the incurable disease.Now that we have another piece of the puzzle in place, we can focus our attention on this gene in the hope we can use it to create treatments to reduce the impact of this disease, and maybe one day even find a cure, he said.(Source: Neuromuscular Disorders: Western Australian Institute for Medical Research: July 2006).