Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/32170
Title: Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis
Authors: Ryan, Devon P.
Dias-da-Silva, Magnus Régios [UNIFESP]
Soong, Tuck Wah
Fontaine, Bertrand
Donaldson, Matt R.
Kung, Annie W. C.
Jongjaroenprasert, Wallaya
Liang, Mui Cheng
Khoo, Daphne H. C.
Cheah, Jin Seng
Ho, Su Chin
Bernstein, Harold S.
Maciel, Rui Monteiro de Barros [UNIFESP]
Brown, Robert H.
Ptacek, Louis J.
Univ Calif San Francisco
Natl Inst Neurosci
Univ Paris 06
Grp Hosp Pitie Salpetriere
Univ Hong Kong
Mahidol Univ
Natl Univ Singapore
Singapore Gen Hosp
Universidade Federal de São Paulo (UNIFESP)
Massachusetts Gen Hosp
Issue Date: 8-Jan-2010
Publisher: Cell Press
Citation: Cell. Cambridge: Cell Press, v. 140, n. 1, p. 88-98, 2010.
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.
URI: http://repositorio.unifesp.br/handle/11600/32170
ISSN: 0092-8674
Other Identifiers: http://dx.doi.org/10.1016/j.cell.2009.12.024
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