Essay On Duchenne Muscular Dystrophy

As a result, a truncated but functional dystrophin is produced, resulting in a mild dystrophic phenotype. To date, various therapeutic approaches for DMD have been extensively developed.

However, the pathomechanism is quite complex despite it being a single gene disorder, and dystrophin is expressed not only in a large amount of skeletal muscle but also in cardiac, vascular, intestinal smooth muscle, and nervous system tissue.

Essay On Duchenne Muscular Dystrophy-27Essay On Duchenne Muscular Dystrophy-2

Several studies have shown that statins reduce NOX2 expression and activity in cardiovascular tissues.

Both dystrophins retain the actin-binding, cysteine-rich (Cys), and C-terminal domains of normal, full-length dystrophin (14 kb). Exon 52 (the number of bases is not a multiple of 3) is absent from pre-m RNA, which results in a misalignment of the reading frame after splicing (out-of-frame); this leads to a premature stop codon in the following exon of the m RNA.

As a result, dystrophin is not produced, leading to a severe dystrophic phenotype.

() Exon 51-skipping therapy for exon 52-deleted DMD.

Exon 51 is skipped by AO (sum of deleted bases is a multiple of 3) in pre-m RNA; subsequently, the reading frame is corrected in m RNA (in-frame) and translation progresses normally. Becker muscular dystrophy exhibits a milder phenotype, having mutations that maintain the reading frame and allow for the production of truncated dystrophin.

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  1. Say where the assessments will take place, how many will there be, how long the assessments will be each time and what exactly will happen. However, where there is no intended benefit to the participant from taking part in the project this should be stated clearly.