Analysis of a Mutant form of Dystrophin

Background and Aim: Duchenne muscular dystrophy (DMD) is severeX-linked neuromuscular disease, caused by a mutation in dmd gene.DMD has a prevalence of 1/5000 boy. Affected boys have muscleweakness and progressive movement disorder. Finally, death occurs atthe age of 30. dmd gene is the largest known gene in human, manydifferent types of mutation described in this gene such as large and smalldeletion and duplications, point mutation and small rearrangement. Theaim of this study is an analysis of different type of mutations in dmd geneaccording to the http://edystrophin.org data.Methods: According to the database, we collect 30 common mutationsthat described in dmd gene and analyze the morphology of dystrophinafter mutation in this region.Results: Morphology of all 30 dystrophin mutants analyzed. Based on ourdata, we found a mutation in critical regions of dystrophin such as N andC terminal. Although it may be repaired by a novel technique like exonskipping or CRISPR/Cas9, the repaired dystrophin is not functional. In hotspot region of dystrophin, exon 45-55, which has repetitive morphology,is the best sit for repair to produce truncated functional dystrophin.Conclusion: Many different types of mutation described in this genesuch as large and small deletion and duplications, point mutation andsmall rearrangement. The selection of the best sit for repair to producetruncated functional dystrophin is so important. Before dmd gene repair,the mutated region should be analyzed in database and bioinformaticssoftware.