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Mutations in Genes that Modify DNA Packaging Result in form of Muscular Dystrophy

By Guest PostNovember 22, 2012Sciencebiopsies, chromatin structure, chromosome 4, culture, daniel g miller, devastating disease, dna sequence, facioscapulohumeral muscular dystrophy, family history, fshd, genetic deletions, genetic disorder, genetic material, genome, leiden university, medical geneticists, michael bamshad, muscle cell, muscle toxic dux4, mutation, protein, rabi tawil, rochester, silvere, smchd1 gene, stephen tapscott, symptom, the netherlands, university, van der maarel, Washington

A recent finding by medical geneticists sheds new light on how facioscapulohumeral muscular dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both men and women.

FSHD is usually an inherited genetic disorder, yet sometimes appears spontaneously via new mutations in individuals with no family history of the condition.

“People with the condition experience progressive muscle weakness and about 1 in 5 require wheelchair assistance by age 40,” said Dr. Daniel G. Miller, University of Washington associate professor of pediatrics in the Division of Genetic Medicine. Miller and his worldwide collaborators study the molecular events leading to symptoms of FSHD in the hopes of designing therapies to prevent the emergence of symptoms or reduce their severity. (more…)

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Mutations in Genes that Modify DNA Packaging Result in form of Muscular Dystrophy