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New clues about the basis of muscle wasting disease
Date:3/12/2010

g that changes in this pathway may be a major factor in actin-based nemaline myopathy and that this area could be used to develop therapies for patients.

Nemaline myopathies are sometimes called rod body myopathies as the damaged proteins form abnormal thread-like rods, called nemaline bodies, in the muscle cells. There are a number of different types of rod myopathies and they affect both males and females. In the majority of cases (90%) the condition becomes apparent at birth or early childhood, although in very rare cases, it does not become apparent until adulthood. Rod myopathies are estimated to affect 1 in 50,000 individuals.

Commenting on the findings, Professor Machesky said, "More research now needs to be done to determine whether cells in patients have the same changes that we saw in cells in the laboratory. We used the drugs Jasplakinolide and Cytochalasin D, which target the actin-MAL complex, to reverse the effects of the mutant actin - but these drugs are toxic at high levels as they also disrupt the actin filaments and thus the cell's structure. If they could be modified or used at low concentrations they may prove useful leads to drug development."

Marita Pohlschmidt director of research at the Muscular Dystrophy Campaign said, "Nemaline myopathy is a very rare condition that can be difficult to diagnose, because it is caused by a defect in one of several genes. The research presented in this paper is an important contribution to understanding what causes the muscle wasting in about a fifth of all people affected with this devastating condition. The results will be vital for the future development of treatments for those affected by nemaline myopathy."


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Contact: Dianne Stilwell
diannestilwell@me.com
44-020-897-76510
Biochemical Journal
Source:Eurekalert

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