TY - JOUR
T1 - Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome
AU - Matsumoto, Nozomu
AU - Kitani, Rei
AU - Kalinec, Federico
N1 - Funding Information:
gain of the cochlear amplifier (Fig. 1B). Institutes of Health grant No. DC010146 reocilia in the guinea-pig cochlea. Acta Otolaryngol nase and other enzymes upon linkages between ste-
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
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U2 - 10.4161/cib.4.2.14491
DO - 10.4161/cib.4.2.14491
M3 - Article
C2 - 21655442
AN - SCOPUS:80155172485
SN - 1942-0889
VL - 4
SP - 208
EP - 210
JO - Communicative and Integrative Biology
JF - Communicative and Integrative Biology
IS - 2
ER -