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- Title
Mitochondrial deafness.
- Authors
Kokotas, H; Petersen, M B; Willems, P J
- 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
Clinical genetics, 2007, Vol 71, Issue 5, p379
- ISSN
0009-9163
- Publication type
Journal Article
- DOI
10.1111/j.1399-0004.2007.00800.x