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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/28805
Title: Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis
Authors: Devon P. Ryan
Magnus R. Dias da Silva
Tuck Wah Soong
Bertrand Fontaine
Matt R. Donaldson
Annie W.C. Kung
Wallaya Jongjaroenprasert
Mui Cheng Liang
Daphne H.C. Khoo
Jin Seng Cheah
Su Chin Ho
Harold S. Bernstein
Rui M.B. Maciel
Robert H. Brown
Louis J. Ptáček
University of California, San Francisco
National Neuroscience Institute of Singapore
Inserm
The University of Hong Kong
Mahidol University
Yong Loo Lin School of Medicine
Singapore General Hospital
Universidade Federal de Sao Paulo
Massachusetts General Hospital
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 8-Jan-2010
Citation: Cell. Vol.140, No.1 (2010), 88-98
Abstract: Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis of various etiologies. These transient attacks resemble those of patients with familial hypokalemic periodic paralysis (hypoKPP) and resolve with treatment of the underlying hyperthyroidism. Because of the phenotypic similarity of these conditions, we hypothesized that TPP might also be a channelopathy. While sequencing candidate genes, we identified a previously unreported gene (not present in human sequence databases) that encodes an inwardly rectifying potassium (Kir) channel, Kir2.6. This channel, nearly identical to Kir2.2, is expressed in skeletal muscle and is transcriptionally regulated by thyroid hormone. Expression of Kir2.6 in mammalian cells revealed normal Kir currents in whole-cell and single-channel recordings. Kir2.6 mutations were present in up to 33% of the unrelated TPP patients in our collection. Some of these mutations clearly alter a variety of Kir2.6 properties, all altering muscle membrane excitability leading to paralysis. © 2010 Elsevier Inc. All rights reserved.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=73349132366&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/28805
ISSN: 00928674
Appears in Collections:Scopus 2006-2010

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