Genetics of Muscular DystrophyPublic
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Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are two muscular dystrophies characterized by progressive muscle loss and weakness. Both diseases are caused by mutations in the dmd gene which produces dystrophin, a key structural protein in muscle cells; however, the prognosis of each disease differs drastically with monetary and logistical implications for families. This MQP aims to elucidate the uncertainty of disease severity by leveraging BMD and DMD data from the neuroMuscular ObserVational Research (MOVR) datahub and the Genotype-Tissue Expression (GTEx) dataset. For patients with whole exon deletions or duplications (n=563), the Brooke Upper Extremity (BUE) scale progression and Vignos Lower Extremity (VLE) scale progression was predicted separately using three different predictor sets: exons, isoforms, and tissues. It was found that predictive exons for BUE progression were clustered around exon 25 which corresponds to an actin binding site on dystrophin. Predictive exons for VLE were clustered around exon 60 which corresponds to the dystroglycan binding site on dystrophin.
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