caa a22 4500 475845064 CHVBK 20180406123911.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/PL00000673 doi (NATIONALLICENCE)springer-10.1007/PL00000673 Mitochondrial defects and hearing loss [Elektronische Daten] [T. P. Hutchin*, G. A. Cortopassi] Abstract.: The techniques of human molecular genetics have been rapidly applied to the study of hearing loss. These studies have implicated more than 60 loci as causes of nonsyndromic hearing loss. Mutations at more than a dozen nuclear genes have been demonstrated to cause hearing loss, and these have been covered in recent reviews. However, a perhaps unexpected feature of the molecular characterization of human hearing loss has been the occurrence of mutations in the mitochondrial DNA (mtDNA). The importance of mitochondrial function in hearing is emphasized by the recent discovery of mutations in a nuclear-encoded mitochondrial protein which results in hearing loss. This article reviews the current status of our knowledge of mtDNA mutations that have been shown to cause hearing loss, and the suggestion of potential molecular, cellular and tissue-specific pathophysiological mechanisms by which dysfunction of mitochondria may lead to a loss of hearing. Birkhäuser Verlag Basel,, 2000 Key words. Hearing loss nationallicence mitochondria nationallicence genetics nationallicence mitochondrial DNA nationallicence ototoxicity nationallicence aminoglycosides nationallicence Hutchin* T. P. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF (United Kingdom), Fax +44 113 2444475, e-mail: t.p.hutchin@leeds.ac.uk, GB aut Cortopassi G. A. Molecular Biosciences, University of California, Davis (California 95616,USA) aut https://doi.org/10.1007/PL00000673 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00000673 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hutchin* T. P. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF (United Kingdom), Fax +44 113 2444475, e-mail: t.p.hutchin@leeds.ac.uk, GB aut NATIONALLICENCE 700 1- Cortopassi G. A. Molecular Biosciences, University of California, Davis (California 95616,USA) aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer