Mitochondrial deafness

Clin Genet. 2007 May;71(5):379-91. doi: 10.1111/j.1399-0004.2007.00800.x.

Abstract

Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. More than 50 nuclear genes have been shown to be involved in non-syndromic hearing loss, but mutations in mitochondrial DNA (mtDNA) might also cause hearing impairment. As mitochondria are responsible for oxidative phosphorylation, the primary energy-producing system in all eukaryotic cells, mitochondrial dysfunction has pleiotropic effects. Many mutations in mtDNA can lead to multisystem disorders, such as Kearns-Sayre syndrome, NARP, MELAS, or MERRF syndromes, the presentation of which may include hearing loss. A more specific association of mitochondrially inherited deafness and diabetes known as MIDD syndrome can be caused by a limited number of specific mitochondrial mutations. In addition, several rare mutations in the mitochondrial MTTS1 and MTRNR1 genes have been found to be responsible for non-syndromic hearing loss. The most frequent form of non-syndromic deafness is presbyacusis, affecting more than 50% of the elderly. This age-related hearing loss is a paradigm for multifactorial inheritance, involving a multitude of inherited and acquired mutations in the nuclear and mitochondrial genomes, each with a low penetrance, in complex interplay with environmental factors, such as ototoxic medication, that accumulate with age. This study reviews the different mitochondrial mutations, leading to syndromic and especially non-syndromic deafness.

Publication types

  • Review

MeSH terms

  • DNA, Mitochondrial / chemistry
  • Deafness / genetics*
  • Genes, Mitochondrial*
  • Hearing Loss / genetics
  • Humans
  • Mitochondria / physiology
  • Mitochondrial Diseases / genetics*
  • Mutation*

Substances

  • DNA, Mitochondrial