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Another Muscular Dystrophy Mystery Solved; MU Scientists Inch Closer to a Therapy for Patients

By Guest PostDecember 9, 2012Healthbony, cell degeneration, chain reaction, damage, death, devastating disease, dmd, dongsheng duan, duchenne muscular dystrophy, dystrophin, fatty tissue, fibrous, function, gene mutation, humans, missouri, molecular compound, muscle cells, muscle tissue, muscular dystrophy, nnos, protein, united states, university, utrophin, yi lai

COLUMBIA, Mo. — Approximately 250,000 people in the United States suffer from muscular dystrophy, which occurs when damaged muscle tissue is replaced with fibrous, bony or fatty tissue and loses function. Three years ago, University of Missouri scientists found a molecular compound that is vital to curing the disease, but they didn’t know how to make the compound bind to the muscle cells. In a new study, published in the Proceedings of the National Academies of Science, MU School of Medicine scientists Yi Lai and Dongsheng Duan have discovered the missing pieces to this puzzle that could ultimately lead to a therapy and, potentially, a longer lifespan for patients suffering from the disease.

Duchenne muscular dystrophy (DMD), predominantly affecting males, is the most common type of muscular dystrophy. Patients with Duchenne muscular dystrophy have a gene mutation that disrupts the production of dystrophin, a protein essential for muscle cell survival and function. Absence of dystrophin starts a chain reaction that eventually leads to muscle cell degeneration and death. While dystrophin is vital for muscle development, the protein also needs several “helpers” to maintain the muscle tissue. One of these “helper” molecular compounds is nNOS, which produces nitric oxide that can keep muscle cells healthy after exercise. (more…)

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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Another Muscular Dystrophy Mystery Solved; MU Scientists Inch Closer to a Therapy for Patients

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