Cause of muscle-wasting disease identified

Posted by er134 at Sep 12, 2014 10:27 AM |
Findings offer possibility of developing new ways of tackling incurable condition
Cause of muscle-wasting disease identified

Dr Sue Shackleton (standing) and post-doctoral researcher Dr Farhana Haque (seated) studying fluorescence microscope images of muscle cells obtained from a patient with Emery-Dreifuss muscular

Scientists have pinpointed for the first time the genetic cause in some people of an incurable muscle-wasting disease, Emery-Dreifuss muscular dystrophy (EDMD).

The international team, led by Dr Sue Shackleton from our Department of Biochemistry, say the finding of two target genes opens the possibility of developing drugs to tackle the disease in these patients.

The research, funded by The Wellcome Trust, has been published in the journal PLOS Genetics.

To date, only six genes have been linked to EDMD.  Despite rigorous screening, at least 50% of patients with EDMD have no detectable mutation in the 6 known genes.

Now the breakthrough study has discovered two more genes linked to the disease.