( B) Gene editing strategy for DMD exon 44 deletion. ( A) Schematic of the procedure for deriving and editing patient with DMD–derived iPSCs and iPSC-CMs. Thus, there remains a major unmet medical need for new strategies to correct the underlying cause of DMD-genetic mutations in the dystrophin gene. To date, however, there has been no effective long-term therapy for this disease, and the only drug approved by the Food and Drug Administration for the treatment of DMD allows for restoration of <1% of the normal level of dystrophin protein after extended treatment ( 6). These mutations cluster in hotspot regions of the gene that can, in principle, be bypassed by various exon skipping strategies to restore the dystrophin open reading frame ( 5). Thousands of mutations that prevent dystrophin production have been identified in patients with DMD ( 4). ![]() Dystrophin is a massive protein (>3600 amino acids), which stabilizes muscle membranes by tethering the actin cytoskeleton to the inner surface of the sarcolemma ( 2, 3). Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is characterized by degeneration of cardiac and skeletal muscles, loss of ambulation, and premature death ( 1).
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