NDLI: Mechanism of Two Novel Human GJC3 Missense Mutations in Causing Non-Syndromic Hearing Loss

Content Provider	Springer Nature Link
Author	Su, Ching Chyuan Li, Shuan Yow Yen, Yung Chang Nian, Jhih Hao Liang, Wei Guang Yang, Jiann Jou
Copyright Year	2012
Abstract	Connexins (CXs), as a component of gap junction channel, are homologous four transmembrane-domain proteins, with numerous studies confirming their auditory functions. Among a cohort of patients having incurred non-syndromic hearing loss, we identified two novel missense mutations, p.R15G and p.L23H, in the GJC3 gene encoding CX30.2/CX31.3, as causally related to hearing loss in previous study. However, the functional alteration of CX30.2/CX31.3 caused by the mutant GJC3 gene remains unknown. In this study, we compared the intracellular distribution of mutant CX30.2/CX31.3 (p.R15G and p.L23H) with the wild-type (WT) protein in HeLa cells and the effect of the mutant protein had on those cells. Analytical results indicated that p.R15G and p.L23H mutant exhibited continuous staining along apposed cell membranes in the fluorescent localization assay, which is the same with the WT. Moreover, ATP release (hemichannel function) is less in HeLa cells carrying mutant GJC3 genes than those of WT expressing cells. We believe that although p.R15G and p.L23H mutants do not decrease the trafficking of CX proteins, mutations in GJC3 genes result in a loss of hemichannel function of CX30.2/CX31.3 protein, possibly causing hearing loss. Results of this study provide a novel molecular explanation for the role of GJC3 in hearing loss.
Starting Page	277
Ending Page	286
Page Count	10
File Format	PDF
ISSN	10859195
Journal	Cell Biochemistry and Biophysics
Volume Number	66
Issue Number	2
e-ISSN	15590283
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-11-22
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	CX30.2/CX31.3 GJC3 Mutation ATP release Hearing loss Biochemistry Pharmacology/Toxicology Biotechnology Cell Biology Biophysics and Biological Physics
Content Type	Text
Resource Type	Article
Subject	Cell Biology Medicine Biochemistry Biophysics

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