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Functional analysis of human Na^+/K^+-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes

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World Journal of Biological Chemistry 2014年第2期5卷 240-253页

作者： Susan Spiller Thomas Friedrich Institute of Chemistry Technical University of Berlin D-10623 Berlin Germany

AIM: Functional characterization of ATP1A2 mutations that are related to familial or sporadic hemiplegic migraine(FHM2, SHM). METHODS: cRNA of human Na+/K+-ATPase α2- and β1-subunits were injected in Xenopus laevis oocytes. FHM2 or SHM mutations of residues located in putative α/β interaction sites or in the α2-subunit's C-terminal region were investigated. Mutants were analyzed by the twoelectrode voltage-clamp(TEVC) technique on Xenopus oocytes. Stationary K+-induced Na+/K+ pump currents were measured, and the voltage dependence of apparent K+ affinity was investigated. Transient currents were recorded as ouabain-sensitive currents in Na+ buffers to analyze kinetics and voltage-dependent presteady state charge translocations. The expression of constructs was verified by preparation of plasma membrane and total membrane fractions of cRNA-injected oocytes. RESULTS: Compared to the wild-type enzyme, the mutants G900R and E902K showed no significant dif-ferences in the voltage dependence of K+-induced currents, and analysis of the transient currents indicated that the extracellular Na+ affinity was not affected. Mutant G855R showed no pump activity detectable by TEVC. Also for L994del and Y1009X, pump currents could not be recorded. Analysis of the plasma and total membrane fractions showed that the expressed proteins were not or only minimally targeted to the plasma membrane. Whereas the mutation K1003E had no impact on K+ interaction, D999H affected the voltage dependence of K+-induced currents. Furthermore, kinetics of the transient currents was altered compared to the wild-type enzyme, and the apparent affinity for extracellular Na+ was reduced. CONCLUSION: The investigated FHM2/SHM mutations influence protein function differently depending on the structural impact of the mutated residue.

关键词： Na+/K+-ATPase Electrophysiology Voltage dependence familial hemiplegic migraine C-terminus β -subunit

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migraine as a sex-conditioned inherited disorder: evidences from China and the world

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Neuroscience Bulletin 2008年第2期24卷 110-116页

作者：王晓平丁洪流耿昌明蒋玉美上海交通大学附属第一人民医院神经科上海200080 美国麻省大学梅耶医学研究所

migraine is a complex and heterogeneous disorder. Although several genetic models has been proposed including autosomal-dominant/autosomal recessive, sex-linked, sex-limited, mitochondrial, and multi-gene, none of these models can well-explain the transmission of the disease. We hypothesied that migraine is a sex-conditioned inherited disorder （autosomal dominant in females and autosomal recessive in males）. This hypothesis is supported by the evidence such as the locations of genes associated with familial hemiplegic migraine, possibly ＂typical＂ migraine as well （dominantly on chromosome 19p, lq, and 2q）, male：female ratio of prevalence （1：2-1：4）, the mostly youth-onset, the provocation by the contraceptives, the induction by menstruation, and the self-limitation after menopause. Female sex-hormones appear to be the key contributor to a higher prevalence of migraine in female. Socio-environmental factors may also play an important role.

关键词： epidemiology genetics migraine familial hemiplegic migraine

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