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Vestibular dysfunction of patients with mutations of connexin 26

Item Type:Article
Title:Vestibular dysfunction of patients with mutations of connexin 26
Creators Name:Todt, I. and Hennies, H.C. and Basta, D. and Ernst, A.
Abstract:The gap junctional network of the inner ear plays an important role in cochlear ionic homoeostasis. Mutations of connexin 26 can induce different types of hearing loss and even deafness. Therefore, it is hypothesized that gap junctions of the human vestibular organ are functionally impaired by mutations of connexin 26. In a prospective, nonrandomized study, the functional status of the semicircular canals and the otolith organs was assessed in one homozygous and six heterozygous carriers of connexin 26 mutations. Five out of seven patients (71.4%) had pathological vestibular evoked myogenic potentials, indicating a loss of saccular function. The utricular function (as tested by subjective haptic vertical) and the function of the semicircular canals (as tested by recording the vestibuloocular reflex) were largely normal. Thus, connexin 26 mutations can be associated with saccular defects of the vestibular receptors.
Keywords:Connexin 26, Gap junctions, GJB2, Vestibular evoked myogenic potentials, Vestibular systems
Publisher:Lippincott Williams & Wilkins
Page Range:1179-1181
Date:1 August 2005
PubMed:View item in PubMed

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