Mitochondrial defects and hearing loss

T. P. Hutchin, Gino A Cortopassi

Research output: Contribution to journalArticle

82 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1927-1937
Number of pages11
JournalCellular and Molecular Life Sciences
Volume57
Issue number13-14
StatePublished - 2000

Fingerprint

Audition
Hearing Loss
Defects
Mutation
Mitochondrial DNA
Mitochondrial Proteins
Medical Genetics
Hearing
Mitochondria
Molecular Biology
Genes
Tissue

Keywords

  • Aminoglycosides
  • Genetics
  • Hearing loss
  • Mitochondria
  • Mitochondrial DNA
  • Ototoxicity

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Cell Biology

Cite this

Mitochondrial defects and hearing loss. / Hutchin, T. P.; Cortopassi, Gino A.

In: Cellular and Molecular Life Sciences, Vol. 57, No. 13-14, 2000, p. 1927-1937.

Research output: Contribution to journalArticle

Hutchin, T. P. ; Cortopassi, Gino A. / Mitochondrial defects and hearing loss. In: Cellular and Molecular Life Sciences. 2000 ; Vol. 57, No. 13-14. pp. 1927-1937.
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