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Understanding Genetic Defect in Myotonic Muscular Dystrophy
The study showed that the loss of a single protein accounts for most of the molecular abnormalities associated with the disease, while loss of a second protein also seems to play an important role.
Co-author Manuel Ares, professor of molecular, cell, and developmental biology at the University of California, Santa Cruz, said that each of the affected proteins interacts with an array of genes that are active in muscle cells and other tissues.
The study reveals a cascading sequence of molecular events in which a mutation in one gene ends up affecting hundreds of other genes and the physiological processes that depend on them.
"This is a genetic disease in which there isn't just one gene that is affected. Our hope is that by chasing down more of the affected genes we might be able to figure out how to address more of the symptoms," Nature quoted Ares as saying.
Myotonic dystrophy involves difficulty-relaxing muscles (myotonia) and, as in other muscular dystrophies, progressive muscle weakness and wasting.
The most common type of myotonic dystrophy (type 1) is caused by changes in a gene that has a repeating sequence of three DNA building blocks.
The sequence is repeated five to 35 times in the normal gene, but an excessive number of repeats (50 to 5,000) leads to disease.
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More News on: Birth Defect - Genetic, Metabolic Defects, Pierre Robin Syndrome , Turners Syndrome, Muscular Dystrophy, Genetics and Stem Cells, Klinefelters Syndrome, Genetic Testing of Diseases, XY Females - Women or Men
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