Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides

Article Abstract:

The mtDNA A1555G mutation was present in 19 Spanish families in which deafness was transmitted maternally, but not found in 51 families with other forms of deafness or in 200 controls. In 12 of the families, deafness occurred in all individuals with the A1555G mutation who had been treated with aminoglycosides. Familial sensorineural deafness with late onset is most commonly the result of the A1555G mutation, while deafness development is accelerated by aminoglycosides.

Health aspects, Deafness, Aminoglycosides

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mtDNA mutations that cause optic neuropathy: how do we know?

Article Abstract:

An unusual mutation affecting nucleotide 14482 of the mitochondrial ND6 gene has been found in a Turkish matrilineal pedigree associated with bilateral optic atrophy. The optic neuropathy is consistent with Leber hereditary optic neuropathy (LHON), but the three previously identified LHON mutations were not found. There is strong evidence that the 14482 mutation can be considered the primary etiological source of the optic neuropathy in this family.

Research, Gene mutations, Gene mutation, Diseases, Mitochondrial DNA, Peripheral nerve diseases, Peripheral nervous system diseases, Optic nerve

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