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慢性耳鸣患者电压门控钾通道亚基 KCNE3 基因的深度重测序。

Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus.

机构信息

Department of Otorhinolaryngology, University of Regensburg, Franz-Josef-Strauss-Allee 11, Regensburg, Germany.

出版信息

Behav Brain Funct. 2011 Sep 7;7:39. doi: 10.1186/1744-9081-7-39.

DOI:10.1186/1744-9081-7-39
PMID:21899751
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3180252/
Abstract

Membrane-stabilizing drugs have long been used for the treatment of chronic tinnitus, suggesting an underlying disturbance of sensory excitability due to changes in ion conductance. The present study addresses the potassium channel subunit gene KCNE3 as a potential candidate for tinnitus susceptibility. 288 Caucasian outpatients with a diagnosis of chronic tinnitus were systematically screened for mutations in the KCNE3 open reading frame and in the adjacent region by direct sequencing. Allele frequencies were determined for 11 known variants of which two (F66F and R83H) were polymorphic but were not associated with the disorder. No novel variants were identified and only three carriers of R83H were noted. However, owing to a lack of power, our study can neither rule out effects of KCNE3 on the risk for developing chronic tinnitus, nor can it exclude a role in predicting the severity of tinnitus. More extensive investigations are invited, including tests for possible effects of variation in this ion channel protein on the response to treatment.

摘要

长期以来,膜稳定剂一直被用于治疗慢性耳鸣,这表明由于离子电导的变化,感觉兴奋性存在潜在的紊乱。本研究将钾通道亚基基因 KCNE3 作为耳鸣易感性的一个潜在候选基因。对 288 名高加索慢性耳鸣门诊患者进行了 KCNE3 开放阅读框和相邻区域突变的系统筛查,采用直接测序法。对 11 个已知变异体的等位基因频率进行了测定,其中两个(F66F 和 R83H)是多态性的,但与该疾病无关。没有发现新的变异体,只有 3 名 R83H 携带者。然而,由于缺乏效力,我们的研究既不能排除 KCNE3 对慢性耳鸣发病风险的影响,也不能排除其在预测耳鸣严重程度方面的作用。邀请进行更广泛的研究,包括测试这种离子通道蛋白的变异对治疗反应的可能影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73eb/3180252/328c4d86610b/1744-9081-7-39-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73eb/3180252/328c4d86610b/1744-9081-7-39-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73eb/3180252/328c4d86610b/1744-9081-7-39-1.jpg

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