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Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy

Lookup NU author(s): Dr Matthias Elstner, Dr Joanna Elson


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The mitochondrial 12S rRNA is considered a hotspot for mutations associated with nonsyndromic (NSHL) and aminoglycoside-induced hearing loss (AIHL). Although aminoglycoside ototoxicity is the most common cause of bilateral vestibular dysfunction, the conceivable role of 12S rRNA mutations has never been systematically investigated. We sequenced the 12S rRNA of 66 patients with bilateral vestibulopathy (BV) with (n = 15) or without (n = 51) prior exposure to aminoglycosides, as well as 155 healthy controls with intact vestibular function (sport pilots), and compared these to 2704 published sequences (Human Mitochondrial Genome Database). No mutations with a confirmed pathogenicity were found (A1555G, C1494T), but four mutations with a hitherto tentative status were detected (T669C, C960del, C960ins, T961G). Due to their predominant occurrence in patients without aminoglycoside exposure, their detection in controls and a weak evolutionary conservation, their pathogenic role in vestibulocochlear dysfunction remains provisional. © 2008 Elsevier Inc. All rights reserved.

Publication metadata

Author(s): Elstner M, Schmidt C, Zingler VC, Prokisch H, Bettecken T, Elson JL, Rudolph G, Bender A, Halmagyi GM, Brandt T, Strupp M, Klopstock T

Publication type: Article

Publication status: Published

Journal: Biochemical and Biophysical Research Communications

Year: 2008

Volume: 377

Issue: 2

Pages: 379-383

ISSN (print): 0006-291X

ISSN (electronic): 1090-2104

Publisher: Academic Press


DOI: 10.1016/j.bbrc.2008.09.134

PubMed id: 18851951


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Funder referenceFunder name
G90/63Medical Research Council