Connexin Disorders of the Ear, Skin, and Lens

Overview

Journal Biochim Biophys Acta

Specialties Biochemistry
Biophysics

Date 2004 Mar 23

PMID 15033586

Citations 66

Authors

Dwan A Gerido

Thomas W White

Affiliations

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Abstract

Gap junctions provide coupled cells with a direct pathway for sharing ions, nutrients, and small metabolites, thus helping to maintain homeostasis in various tissues. Abnormal function and/or expression of specific connexin genes has been linked to several diseases, including genetic deafness, skin disease, peripheral neuropathies, and cataracts. Research has provided significant insight into the function of gap junction proteins in both in vitro and in vivo models; however, questions regarding the exact mechanisms by which connexin related diseases occur in mammalian systems remain. Here, we discuss the disease states that are related to three human connexin genes, Cx26 (GJB2), Cx46 (GJA3) and Cx50 (GJA8), and recent scientific evidence characterizing those diseases in various experimental models.

Citing Articles

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A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.

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The Hydrophobic Residues in Amino Terminal Domains of Cx46 and Cx50 Are Important for Their Gap Junction Channel Ion Permeation and Gating.

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Novel Homozygous Missense Variant in Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.

Hassan A, Yousaf S, Levin M, Saeedi O, Riazuddin S, Alexander J Int J Mol Sci. 2022; 23(1).

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Cataract Progression Associated with Modifications in Calcium Signaling in Human Lens Epithelia as Studied by Mechanical Stimulation.

Gosak M, Gojic D, Spasovska E, Hawlina M, Andjelic S Life (Basel). 2021; 11(5).

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