A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis

A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis

Autor Dias-da-Silva, Magnus Régios Autor UNIFESP Google Scholar
Cerutti, Janete Maria Autor UNIFESP Google Scholar
Arnaldi, Liliane Aparecida Teixeira Autor UNIFESP Google Scholar
Maciel, Rui Monteiro de Barros Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo Hypokalemic Periodic Paralyses comprise diverse diseases characterized by acute and reversible attacks of severe muscle weakness, associated with low serum potassium. the most common causes are Familial Hypokalemic Periodic Paralysis (FHypoKPP), an autosomal dominant disease, and Thyrotoxic Hypokalemic Periodic Paralysis (THypoKPP), secondary to thyrotoxicosis. Symptoms of paralysis are similar in both diseases, distinguished by thyrotoxicosis present in THypoKPP. FHypoKPP is caused by mutations in ionic channel genes calcium (CACNIAS), sodium (SCN4A) and potassium (KCNE3). Since both diseases are similar, we tested the hypothesis that THypoKPP could carry the same mutations described in FHypoKPP, being the paralysis a genetically conditioned complication of thyrotoxicosis. in 15 patients with THypoKPP, using target-exon PCR, CSGE screening, and direct sequencing, we excluded known mutations in CACNIAS and SCN4A genes. On the other hand, we were able to identify the R83H mutation in the KCNE3 gene in one sporadic case of THypoKPP, a man who had been asymptomatic until developing thyrotoxicosis caused by Graves' disease; we confirmed the disease-causing mutation in 2 of 3 descendants. R83H was recently found in two FHypoKPP unrelated families, in which the mutant decreased outward potassium flux, resulting in a more positive resting membrane potential. We, therefore, identified the first genetic defect in THypoKPP, a mutation in the KCNE3 gene.
Idioma Inglês
Data de publicação 2002-11-01
Publicado em Journal of Clinical Endocrinology & Metabolism. Chevy Chase: Endocrine Soc, v. 87, n. 11, p. 4881-4884, 2002.
ISSN 0021-972X (Sherpa/Romeo, fator de impacto)
Publicador Endocrine Soc
Extensão 4881-4884
Fonte http://dx.doi.org/10.1210/jc.2002-020698
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000179121800007
Endereço permanente http://repositorio.unifesp.br/handle/11600/27013

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