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Distal Myopathies
Research
Recent MDA-supported research in distal muscular dystrophy (DD) has concentrated on understanding how the gene defects that cause this diverse group of diseases affect the proteins made from these genes, and in turn how these protein abnormalities affect muscle tissue.
When the protein and tissue abnormalities are understood, it is hoped, potential avenues of treatment will reveal themselves.
Abnormalities in the dysferlin protein, which underlie many cases of DD, have received particular attention. It's been found that dysferlin loss may lead to muscular dystrophy by making muscles less able to repair themselves when they're damaged.
Some researchers are working on developing gene replacement therapy for dysferlin-related DD, while others are trying to identify other ways to compensate for dysferlin's loss or malfunction.
Other cases of DD are caused by mutations in the gene for the titin protein. The muscle abnormalities caused by these mutations have also received particular attention from MDA-supported researchers.