Gene responsible for new form of adult muscular dystrophy

A study published in the online edition the American Journal of Human Genetics, is the first to identify a new form of adult onset muscular dystrophy. The research team led by Dr Bernard Brais, neurogeneticist at the Research Centre of the Centre hospitalier de l’Université de Montréal (CRCHUM) and associate professor at the Université de Montréal, in collaboration with European scientists, demonstrated that recessive ANO5 mutations lead to abnormal membrane repair of muscle fibres.

The continuous stress induced by such muscle contractions lead to membrane tears that need to be rapidly repaired. ”An understanding of how the loss of AN05 will lead to defective membrane repair will lead to better treatments of all muscular dystrophies where such abnormal process play a role,” notes Dr Brais.

All participants of the study had two recessive mutations inherited from healthy parents that were identified by the scientific team. French Canadian cases were found to develop proximal limb girdle muscular dystrophy, usually in their 30s, while European cases developed a more distal non-dysferlin Miyoshi myopathy (MMD3). Researchers also found one mutation appears to be more frequent in the Quebec population.

This study represents the first time Quebec researchers both describe a new form of muscular dystrophy and identify its causal gene.

(Source: l’Université de Montréal: American Journal of Human Genetics: January 2010)