BIOM30002 : University of Melbourne Biomedicine – BIOM30002
30 Jul 2015
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Document Summary
Full length dystrophin has 4 structural domains: a vital n terminal actin binding domain, connects to the actin so when the muscle contracts, there is a scaffold, a middle rod domain of spectrin like repeats, shorter forms with fewer repeats remain variably functional, a cysteine rich domain, important for function of molecule, a carboxyl terminal domain allowing assembly of the dapc (dystrophin associated protein complex) Genetic testing (by mlpa) for dmd: positive in 65 70% cases (mlpa doesn"t pick up point mutations so negative results can still mean they, deletions 65%; duplications 5%; point mutations 10 15% have dmd, muscle biopsy, high suspicion of dmd, genetic tests are negative, necessary in about 1/3 of cases. A multisystem disorder: proximal + distal weakness and wasting, smooth muscle involvement: constipation, uterine, cognitive deficits, excessive somnolence, personality changes, cataracts, endocrine dysfunction: diabetes, infertility.
