title: Mitochondrial deafness.
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.
authors.affiliation: Department of Genetics, Institute of Child Health, Athens, Greece.
authors.forename: H
authors.initials: H
authors.lastname: Kokotas
authors.forename: M B
authors.initials: MB
authors.lastname: Petersen
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D004272:DNA, Mitochondrial / Q000737:chemistry; D003638:Deafness / Q000235:genetics*; D050259:Genes, Mitochondrial; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D008928:Mitochondria / Q000502:physiology; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial