Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome

Nozomu Matsumoto, Rei Kitani, Federico Kalinec

研究成果: ジャーナルへの寄稿学術誌査読

17 被引用数 (Scopus)

抄録

Williams syndrome (a.k.a. Williams-Beuren Syndrome) is a multisystem disorder caused by the hemizygous deletion of a 1.6 Mb region at 7q11.23 encompassing about 26 genes, including that encoding LIM kinase 1 (LIMK1). Individuals with Williams Syndrome manifest hyperacusis and progressive hearing loss, and hyperacusis early onset suggests that it could be associated with one of the deleted genes. Based on our results about the critical role of LIM kinases in the regulation of the motile responses of cochlear outer hair cells (OHC) and cochlear amplification, we propose here that a reduced expression of LIMK1 in OHC would be the major underlying cause of the hyperacusis and progressive hearing loss observed in patients with Williams Syndrome. Moreover, we propose a novel model of gain-control for cochlear amplification based on LIMK-mediated regulation of OHC's slow motility.

本文言語英語
ページ(範囲)208-210
ページ数3
ジャーナルCommunicative and Integrative Biology
4
2
DOI
出版ステータス出版済み - 3月 2011

!!!All Science Journal Classification (ASJC) codes

  • 農業および生物科学(全般)

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