Pesquisa da mutação R528H no gene do canal de cálcio voltagem-dependente em pacientes com paralisia periódica hipocalêmica na forma familiar e tirotóxica

Pesquisa da mutação R528H no gene do canal de cálcio voltagem-dependente em pacientes com paralisia periódica hipocalêmica na forma familiar e tirotóxica

Alternative title R528H mutation in the voltage-dependent calcium channel causes familial hypokalemic periodic paralysis but it is not linked to thyrotoxic hypokalemic periodic paralysis
Author Dias-da-Silva, Magnus Régios Autor UNIFESP Google Scholar
Advisor Maciel, Rui Monteiro de Barros Autor UNIFESP Google Scholar
Abstract Familial Hypokalemic Periodic Paralysis (FHPP) is an autosomal dominant skeletal muscle disorder manifested by episodic weakness associated with low serum potassium. Thyrotoxicosis has been described as the most frequent secondary cause of hypokalemic periodic paralysis, originating the so called Thyrotoxic Hypokaiemic Periodic Paralysis (THPP). Recent genetic research has revealed that FHPP is an ion channel disease. Through genetic linkage analysis the locus was mapped into chromosome lq3l-32, where the dihydropyridine sensitive calcium channel a-l subunit (CACNALS) receptor is located. Subsequently, 3 missense point mutations (R528H, Rl239H and Rl239G) were found in the S4 voltage sensing transmembrane domain, which represents the voltage-gated function of this protein and plays an important role in excitation-contraction coupling in skeletal muscle. By restriction fragment analysis, the R528H mutation was detected in transmembrane segment IIS4 in 4 members of one Brazilian family with Caucasian ancestry with FHPP. Since THPP and FHPP are very similar, we also looked for these mutations in 13 patients with THPP, being 11 sporadic and 2 affected familiar members. No evidence of mutations in ali the 4 full S4 segment (IS4, IIS4, IIIS4 and IVS4) was found. Most likely due to a large genetic heterogeneity, it is plausible that other mutations remain to be discovered
Keywords Canais de Cálcio
Paralisias Periódicas Familiares
Reação em cadeia por polimera
Mutação
Language Portuguese
Date 2000
Published in São Paulo: [s.n.], 2000. 36 p. ilustab.
Publisher Universidade Federal de São Paulo (UNIFESP)
Extent 36 p.
Access rights Closed access
Type Dissertation
URI http://repositorio.unifesp.br/handle/11600/16720

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