Document Detail

Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.
MedLine Citation:
PMID:  16549283     Owner:  NLM     Status:  MEDLINE    
Hearing depends on functional ClC-K-type chloride channels composed of barttin with ClC-Ka or ClC-Kb. Loss-of-function mutations of the barttin gene BSND or of both, the ClC-Ka gene CLNKA and the ClC-Kb gene CLNKB lead to congenital deafness and renal salt wasting. Recently, we identified the gain-of-function mutation ClC-Kb(T481S) which is associated with increased blood pressure. To explore the impact of ClC-Kb(T481S) on hearing, healthy volunteers (n=329) and individuals suffering from tinnitus (n=246) volunteered for hearing tests (n=348) and genetic analysis (n=575). 19.1% of the individuals were heterozygote (ClC-Kb(T481S)/ClC-Kb) and 1.7% homozygote carriers. Pure tone average hearing threshold (PTAt) for air conduction was significantly (p<0.033) lower in ClC-Kb(T481S) carriers (13.2+/-1.2dB) than in wild-type individuals (17.1+/-0.9dB). The prevalence of ClC-Kb(T481S) carriers was significantly increased (29.7%) in individuals with PTAt<15dB (p<0.05) and significantly decreased (13.2%) in individuals with PTAt>30 dB (p<0.017). The difference was largely due to the female population. Bone conduction was less affected pointing to an effect of the mutation on middle ear function. Tinnitus tended to be more frequent in ClC-Kb(T481S) carriers, a difference, however, not statistically significant. In conclusion, hearing thresholds are slightly lower in carriers of ClC-Kb(T481S), i.e., the gain-of-function polymorphism ClC-Kb(T481S) exerts a subtle but significant protective effect against hearing loss.
Andreas Frey; Angelika Lampert; Siegfried Waldegger; Nikola Jeck; Petra Waldegger; Ferruh Artunc; Guiscard Seebohm; Undine E Lang; Susan Kupka; Markus Pfister; Julia Hoppe; Christian Gerloff; Elke Schaeffeler; Matthias Schwab; Florian Lang
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-03-23
Journal Detail:
Title:  Hearing research     Volume:  214     ISSN:  0378-5955     ISO Abbreviation:  Hear. Res.     Publication Date:  2006 Apr 
Date Detail:
Created Date:  2006-04-24     Completed Date:  2006-06-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7900445     Medline TA:  Hear Res     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  68-75     Citation Subset:  IM    
Department of Physiology, University of Tübingen, Gmelinstrasse 5, D-72076 Tübingen, Germany.
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MeSH Terms
Audiometry, Pure-Tone
Auditory Threshold / physiology*
Case-Control Studies
Chi-Square Distribution
Chloride Channels / genetics*,  physiology
DNA Mutational Analysis
Deafness / congenital,  genetics*
Ion Transport / genetics
Membrane Proteins / genetics,  physiology
Middle Aged
Polymorphism, Single Nucleotide
Sex Factors
Stria Vascularis / metabolism
Tinnitus / genetics
Xenopus laevis
Reg. No./Substance:
0/BSND protein, human; 0/CLCNKB protein, human; 0/Chloride Channels; 0/Membrane Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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