Polymorphisms of human skeletal muscle sodium channel (SCN4A) gene in paralysis periodica paramyotonica = Paralysis periodica paramyotonica에서 골격근 나트륨 통로 단백질 (SCN4A) 유전자의 다형성 분석

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Patients with paralysis periodica paramyotonica (PPP) exhibit a clinical syndrome with characteristics of both hyperkalemic periodic paralysis (HyperPP) and paramyotonia congenita. In several types of periodic paralysis associated with hyperkalemia, mutations in the skeletal muscle sodium channel gene (SCN4A) have been previously reported. Phenotypic variations of mutations in the SCN4A, however, have not been described yet. The present study was performed to evaluate genetic variations in a family with clinical and electrophysiological characteristics of paralysis periodica paramyotonica (PPP). Seven members of a family affected with symptoms of periodic paralysis and paramyotona were studied with electrophysiological and genetic analyses. Increased serum potassium levels were observed in four members of this family during paralytic attacks induced by HyperPP provocation tests. Short exercise tests (SETs) before and after cold immersion were carried out in four patients to distinguish electrophysiolgical characteristics of HyperPP and paramyotonia. Sequencing analyses of SCN4A were performed on one patient and a normal control to identify polymorphisms. Restriction fragment length polymorphism (RFLP) analysis was then performed at the identified polymorphic sites. Amplitudes of compound motor action potential (CMAP) were increased (4.0-24.3%) during voluntary muscle contraction and then decreased (7.3-28.6%) after the muscle contraction on the short exercise test. On the cold immersion tests, the CMAP amplitudes were increased markedly (6.3-43.5%) during the muscle contraction and then even more severely decreased (21.7-56.5%) in after the contraction than in shorter time (13-15 minutes) than the results on SET at room temperature. Three polymorphic sites, Gln371Glu, Thr704Met, and Aspl376Asn in SCN4A were identified. RFLP analyses showed that all affected patients carried the Thr704Met mutation, while unaffected family members and a normal control did not. Th...
Chung, Jae-Hoonresearcher정재훈researcher
한국과학기술원 : 생물과학과,
Issue Date
165788/325007 / 000965100

학위논문(박사) - 한국과학기술원 : 생물과학과, 2001, [ vi, 67 p. ]


paralysis periodica paramyotonica; hyperkalemic periodic paralysis; skeletal muscle sodium channel; 골격근 나트륨통로 유전자; 골격근 나트륨통로; 고칼륨혈증주기성마비증; skeletal muscle sodium channel gene

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