NIH R01 · 2024
Mechanisms of Skeletal Muscle Pathogenesis in Myotonic Dystrophy Type 1
Project Summary Myotonic dystrophy is the second most common cause of muscular dystrophy and the most common cause of adult onset muscular dystrophy. The primary cause of disease mortality is progressive skeletal muscle weakness and wasting. The long term goal of this project is to determine the mechanisms that cause skeletal muscle pathogenesis in myotonic dystrophy type 1 (DM1). DM1 is an autosomal dominant disease caused by a CTG repeat expansion in the 3’ untranslated region of the DMPK gene. The molecular basis for the disease is a toxic gain of function of the RNA containing expanded CUG repeats (CUGexp RNA) that is transcribed from the mutant allele. CUGexp RNA accumulates in nuclear…
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