Essay On Duchenne Muscular Dystrophy

Essay On Duchenne Muscular Dystrophy-57
The severity of statin-induced myopathy ranges from muscle pain (often not due to statins, as it turns out) to muscle weakness to a severe necrotizing myopathy.The latter is quite serious but fortunately is very rare.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.

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Many physicians and some scientists hold the view that statins should not be prescribed for people with any muscle disease. As you might guess, we had some difficulty getting our paper published because of this concern. Whitehead: A moderate human dose of simvastatin was administered to mice at different stages of the disease and produced considerable improvements in overall muscle health and physiological function.

Minidystrophin is a dystrophin of mild BMD patients that is ~6.4 kb in size.

Based on this, the rod region was further truncated to create microdystrophin (4.9 kb) that can be incorporated into viral vectors.

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.


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