Hyperkalemic periodic paralysis M1592V mutation modifies activation in human skeletal muscle Na1 channel
نویسندگان
چکیده
CECILIA V. ROJAS,1 ALAN NEELY,2 GABRIELA VELASCO-LOYDEN,1 VERÓNICA PALMA,3 AND MANUEL KUKULJAN3 1Instituto de Nutrición y Tecnologı́a de los Alimentos, Universidad de Chile, Casilla 138-11, Santiago; and 3Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Casilla 70005-7, Santiago, Chile; and 2Department of Physiology, Texas Tech University Health Sciences Center, Lubbock, Texas 79430
منابع مشابه
Hyperkalemic periodic paralysis M1592V mutation modifies activation in human skeletal muscle Na+ channel.
Mutations in the human skeletal muscle Na+ channel underlie the autosomal dominant disease hyperkalemic periodic paralysis (HPP). Muscle fibers from affected individuals exhibit sustained Na+ currents thought to depolarize the sarcolemma and thus inactivate normal Na+ channels. We expressed human wild-type or M1592V mutant α-subunits with the β1-subunit in Xenopus laevis oocytes and recorded Na...
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Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage-gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2...
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BACKGROUND AND PURPOSE Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myo...
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