explain the below mutation for Duchenne Muscular Dystrophy disease including the transcriptional and translational aspects , how does it affect the DNA and mRNA sequence is it a duplication, deletion or insertion? The Impact of Duplication Mutation on Duchenne Muscular Dystrophy Disease

The Impact of Duplication Mutation on Duchenne Muscular Dystrophy Disease


Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by a duplication mutation in the dystrophin gene (Kong et al., 2021). This duplication mutation results in a frameshift, caused by the insertion of a single base or multiple bases in a gene, which alters the DNA and mRNA sequence (Muller et al., 2020). The insertion of bases in the dystrophin gene leads to the production of an abnormal dystrophin protein, which is essential for muscle function (Kong et al., 2021). As a result, individuals with DMD experience progressive muscle weakness and eventually require the use of a wheelchair (Muller et al., 2020). The transcriptional aspect of the duplication mutation in DMD involves the addition of extra bases, which alters the codon sequence of the dystrophin gene (Kong et al., 2021). The abnormal codons result in a premature termination codon, which results in the production of a truncated dystrophin protein (Muller et al., 2020). The truncated protein is unable to perform its muscle-stabilizing function, leading to the muscle weakening symptoms associated with DMD. Cont….

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