Sandbox Reserved 970: Difference between revisions
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== Dysfunctions and Diseases == | == Dysfunctions and Diseases == | ||
Two human genetic diseases caused by mutations in the SERCA pump have been identified : Brody's disease and Darier's disease.<ref name = "four">Marisa Brini , Ernesto Carafoli, 2009 - ''Calcium pumps in health and disease'' - Physiological Reviews</ref> Brody's disease is caused by 2 mutations in the SERCA1 gene called ATP2A1: <scene name='60/604489/Ile_235/1'>Ile235Asn</scene> and <scene name='60/604489/Glu982/1'>Glu982Lys</scene>. <ref>Nyamkhishig Sambuughin, Elena Zvaritch, Natasha Kraeva, Olga Sizova, Erica Sivak, Kelley Dickson, Margaret Weglinski, John Capacchione, Sheila Muldoon, Sheila Riazi, Susan Hamilton, Barbara Brandom and David H. MacLennan, 2014 - ''Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility'' - Molecular Genetics & Genomic Medicine</ref>. Brody's disease is an autosomal recessive myopathy. The symptoms are muscle stiffness, cramps and progressive impairment of muscle relaxation during exercise. Darier's disease is a rare, dominantly inherited disorder that affects the skin producing a variety of types of lesion. It is caused by mutations in the SERCA2 gene (ATP2A2). Defects in the activity or expression level of the pump can cause other dysfunctions such as heart failure or cancer. | |||
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