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Telomere Shortening Affects Muscular Dystrophy Gene, University of Texas Southwestern Medical Center Study


5/7/2013 7:56:57 AM

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Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that causes the muscles of the upper body to waste away. It is unusual in that symptoms do not usually appear until sufferers are in their teens or early 20s, although similar disorders begin to affect victims in early childhood. Moreover, while about one percent of people carry the mutations that cause FSHD, only 1 in 20,000 actually develop the disease. In a study published in Nature Structural & Molecular Biology, Woodring Wright of the University of Texas Southwestern Medical Center in Dallas and his team report that telomere shortening, which is associated with age, causes increased expression of the gene associated with FSHD. This could explain why the disease has such a late onset and why so many people with the associated mutations never develop it.

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Read at MedicalXpress


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