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Identification of the gene responsible for a new form of adult muscular dystrophy

Date:
January 22, 2010
Source:
Centre hospitalier de l'Université de Montréal
Summary:
A new form of adult onset muscular dystrophy has been identified. The research demonstrated that recessive ANO5 mutations will lead to abnormal membrane repair of muscle fibers.

A study published in the January 21 online edition the American Journal of Human Genetics, allowed the first identification of 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, Université de Montréal, in collaboration with European collaborators, demonstrated that recessive ANO5 mutations will lead to abnormal membrane repair of muscle fibers.

The continuous stress induced by contractions of muscles lead to tears of its membrane 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 were such abnormal process play a role. '', notes Dr. Brais.

In all the patients in the study, the researchers identified in all patients two recessive mutations inherited from both healthy parents. French Canadian cases were found to develop proximal limb girdle muscular dystrophy, usually in the thirties, while European cases developed a more distal non-dysferlin Miyoshi Myopathy (MMD3). One mutation appears to be more frequent in the Quebec population.

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

Muscular dystrophy

Muscular dystrophy is the name for a group of neuromuscular disorders that are characterized by progressive weakness and wasting of the voluntary muscles that control body movement. As muscle tissue weakens and wastes away, it is replaced by fatty and connective tissue.*

This study was supported by grants from the American Muscular Dystrophy (MDA) founded more than 50 years ago by Jerry Lewis, Muscular Dystrophy Campaign (United Kingdom) and the Jain Foundation.


Story Source:

The above story is based on materials provided by Centre hospitalier de l'Université de Montréal. Note: Materials may be edited for content and length.


Cite This Page:

Centre hospitalier de l'Université de Montréal. "Identification of the gene responsible for a new form of adult muscular dystrophy." ScienceDaily. ScienceDaily, 22 January 2010. <www.sciencedaily.com/releases/2010/01/100121140338.htm>.
Centre hospitalier de l'Université de Montréal. (2010, January 22). Identification of the gene responsible for a new form of adult muscular dystrophy. ScienceDaily. Retrieved August 22, 2014 from www.sciencedaily.com/releases/2010/01/100121140338.htm
Centre hospitalier de l'Université de Montréal. "Identification of the gene responsible for a new form of adult muscular dystrophy." ScienceDaily. www.sciencedaily.com/releases/2010/01/100121140338.htm (accessed August 22, 2014).

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