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Muscle disease genes discovered

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Scientists believe they have discovered the genetic cause of an incurable muscle-wasting disease, paving the way for new treatments for sufferers.

Two genes with mutations linked to Emery-Dreifuss muscular dystrophy (EDMD), whose sufferers have an increased risk of heart attacks, were found by an international team led by the University of Leicester.

The inherited condition, which first develops in childhood or adolescence, affects around 1,000 people in the United Kingdom and also leaves them with stiffened joints.

The research was welcomed by Dr Marita Pohlschmidt, director of research at the Muscular Dystrophy Campaign, who said: “In the future, this will give more people an accurate genetic diagnosis, helping them to understand the risk of passing it (EDMD) on to their children and to make informed choices with regards to planning for a family.

“An accurate genetic diagnosis also means that patients will receive more precise information about the prognosis of the condition.

“Most importantly, a better understanding of the condition is crucial for the development of treatments for this complex and devastating condition.”

Currently the main treatment for EDMD is a pacemaker to help deal with heart problems.

Six genes have already been linked to development of the condition, but half of all sufferers show no mutations in these genes.

It is hoped that the discovery of the two new genes by the research, published in the journal PLOS Genetics, will offer hope to these people.

The research was funded by The Wellcome Trust and included scientists from the University of Greifswald in Germany, the Institute of Molecular Genetics, Bologna, Italy, and Columbia University in the United States.

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