EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear

Jing Chen, Hongbo Zhao

Research output: Contribution to journalReview articlepeer-review

Abstract

Inwardly rectifying potassium (Kir) channels exhibit an asymmetrical conductance at hyperpolarization (high conductance) compared to depolarization (low conductance). The KCNJ10 gene which encodes an inwardly rectifying K+ channel Kir4.1 subunit plays an essential role in the inner ear and hearing. Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, ataxia, sensorineural deafness, and renal tubulopathy (EAST) or SeSAME (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) syndromes. In this review, we mainly focus on the expression and function of Kir4.1 channels in the inner ear and mutation-induced EAST/SeSAME syndromes to provide insight for understanding the pathogenesis of deafness induced by KCNJ10 deficiency.

Original languageEnglish
Pages (from-to)1318-1322
Number of pages5
JournalLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery
Volume29
Issue number14
StatePublished - Jul 1 2015

ASJC Scopus subject areas

  • General Medicine

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