1. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.
- Author
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Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, and Rotter JI
- Subjects
- Aminoglycosides, Anti-Bacterial Agents adverse effects, Base Sequence, Deafness chemically induced, Ethnicity, Female, Humans, Israel, Male, Molecular Sequence Data, Pedigree, Point Mutation, RNA, Mitochondrial, Deafness genetics, RNA genetics, RNA, Ribosomal genetics
- Abstract
Maternally transmitted non-syndromic deafness was described recently both in pedigrees with susceptibility to aminoglycoside ototoxicity and in a large Arab-Israeli pedigree. Because of the known action of aminoglycosides on bacterial ribosomes, we analysed the sequence of the mitochondrial rRNA genes of three unrelated patients with familial aminoglycoside-induced deafness. We also sequenced the complete mitochondrial genome of the Arab-Israeli pedigree. All four families shared a nucleotide 1555 A to G substitution in the 12S rRNA gene, a site implicated in aminoglycoside activity. Our study offers the first description of a mitochondrial rRNA mutation leading to disease, the first cases of non-syndromic deafness caused by a mitochondrial DNA mutation and the first molecular genetic study of antibiotic-induced ototoxicity.
- Published
- 1993
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