Tags: muscular | dystrophy | gene

MD Discovery Points to New Therapy

Tuesday, 11 Dec 2012 10:43 AM


University of Missouri scientists have unlocked the genetic mystery behind a key process involved in muscular dystrophy, moving a step closer to a new therapy for patients.
About 250,000 Americans suffer from MD, which occurs when damaged muscle tissue is replaced with fibrous, bony or fatty tissue. Three years ago, UM scientists discovered 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.
Bu in a new study, published in the Proceedings of the National Academies of Science, MU School of Medicine scientists Yi Lai and Dongsheng Duan solved the mystery and say the findings could ultimately lead to a therapy and a longer lifespan for patients suffering from the disease.
Patients with Duchenne muscular dystrophy (DMD), the most common type, have a gene mutation that disrupts the production of the protein dystrophin, needed for muscle cell function. The protein also relies on several other molecular compounds to maintain the muscle tissue, including a substance known as nNOS.
"Dystrophin not only helps build muscle cells, it's also a key factor to attracting nNOS to the muscles cells and helping nNOS bind to the cell and help repair it following activity," said Lai. "Prior to this discovery, we didn't know how dystrophin made nNOS bind to the cells. What we found was that dystrophin has a special 'claw' that is used to grab nNOS and bring it close to the muscle cell. Now that we have that key, we hope to begin the process of developing a therapy for patients."
Although the new research involved laboratory tests of mice, Lai said the findings have significant implications for human patients and pave the way for “a significant therapy for humans with this devastating disease."


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Scientists have unlocked the genetic mystery behind a key process involved in muscular dystrophy.
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2012-43-11
Tuesday, 11 Dec 2012 10:43 AM
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