Cited by 114Ion channel regulation and functionCardiac electrophysiology and arrhythmiasPotassium and Related Disorders

A Mutation in the KCNE3 Potassium Channel Gene Is Associated with Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

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Dias Da Silva, Magnus R., Cerutti, Janete M., Arnaldi, Liliane A. T., Maciel, Rui M. B.·2002·The Journal of Clinical Endocrinology & Metabolism

Abstract

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 (CACN1AS), 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 CACN1AS 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.

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  1. [4]4. Ptáček LJ, Bendahhou S. 2001 Ion channel disorders of muscle. In: G Karpati, D Hilton-Jones, RC Griggs, eds. Disorders of Voluntary Muscle. 7th ed. Cambridge: Cambridge Univ. Press;604-635.

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Authors
Dias Da Silva, M. R., Cerutti, J. M., Arnaldi, L. A. T., & Maciel, R. M. B.
Affiliations
  • Laboratory of Molecular Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil
  • Universidade Federal de São Paulo (BR)
Venue
The Journal of Clinical Endocrinology & Metabolism
Published
2002-11-01
Volume
87
Issue
11
Pages
4881-4884
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
OpenAlex
W2067200379
Cited by
113
References
0
Citations by year
2026: 1 · 2025: 3 · 2024: 1 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 2 · 2015: 3 · 2014: 5 · 2013: 2 · 2012: 8
FWCI
3.11
Type
journal article
Language
en
Open access
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • Americanae (AECID Library) (publishedVersion, other-oa)
  • LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Potassium and Related Disorders
Keywords
thyrotoxic hypokalemic periodic paralysis, KCNE3, potassium channels, thyrotoxicosis, Graves' disease, familial hypokalemic periodic paralysis, SCN4A, genetic susceptibility, muscle weakness, resting membrane potential
MeSH terms
Adult, Humans, Iodine Radioisotopes, Male, Membrane Potentials, Methimazole, Mutation, Pedigree, Potassium Chloride, Antithyroid Agents, Thyrotoxicosis, Potassium Channels, Polymerase Chain Reaction, Genetic Predisposition to Disease, Hypokalemic Periodic Paralysis, Potassium Channels, Voltage-Gated

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