Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness

T. R. Prezant, J. V. Agapian, M. C. Bohlman, X. Bu, S. Oztas, W. Q. Qiu, K. S. Arnos, Gino A Cortopassi, L. Jaber, J. I. Rotter, M. Shohat, N. Fischel-Ghodsian

Research output: Contribution to journalArticle

914 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)289-294
Number of pages6
JournalNature Genetics
Volume4
Issue number3
DOIs
StatePublished - 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W. Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M., & Fischel-Ghodsian, N. (1993). Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness. Nature Genetics, 4(3), 289-294. https://doi.org/10.1038/ng0793-289