Genetic Disorders: Muscular Dystrophy

3094 Words Jan 25th, 2018 12 Pages
Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.
Types of Muscular Dystrophy
An example of one such category of muscular dystrophy is distal muscular dystrophy. distal muscular dystrophy causes atrophied muscles due to a damaged DYSF or ANO5 gene. The DYSF gene aids in the creation of dysferlin. Dysferlin is found in the thin sarcolemma of the muscle tissue which is thought to aid the sarcolemma in repairing muscles. Since the production of dysferlin is inhibited by this form of muscular dystrophy, the muscles are not able to be repaired, leading them to become progressively more damaged and ineffective over time. Abnormalities in the other ANO5 gene, which produces anoctamin-5 affect muscles by reducing if not eliminating said protein. ANO5 is thought to provide transport for chlorine ions to the muscle cells of a muscle. These two genetic disorders are usually closely linked and it is common for the abnormality of one gene…
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