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

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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

Fingerprint

Ribosomal RNA
Aminoglycosides
Deafness
Pedigree
Anti-Bacterial Agents
rRNA Genes
Mutation
Mitochondrial Genome
Mitochondrial Genes
Mitochondrial DNA
Ribosomes
Molecular Biology
Nucleotides
mitochondrial RNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W. Q., ... 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

Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness. / Prezant, T. R.; Agapian, J. V.; Bohlman, M. C.; Bu, X.; Oztas, S.; Qiu, W. Q.; Arnos, K. S.; Cortopassi, Gino A; Jaber, L.; Rotter, J. I.; Shohat, M.; Fischel-Ghodsian, N.

In: Nature Genetics, Vol. 4, No. 3, 1993, p. 289-294.

Research output: Contribution to journalArticle

Prezant, TR, Agapian, JV, Bohlman, MC, Bu, X, Oztas, S, Qiu, WQ, Arnos, KS, Cortopassi, GA, Jaber, L, Rotter, JI, Shohat, M & Fischel-Ghodsian, N 1993, 'Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness', Nature Genetics, vol. 4, no. 3, pp. 289-294. https://doi.org/10.1038/ng0793-289
Prezant, T. R. ; Agapian, J. V. ; Bohlman, M. C. ; Bu, X. ; Oztas, S. ; Qiu, W. Q. ; Arnos, K. S. ; Cortopassi, Gino A ; Jaber, L. ; Rotter, J. I. ; Shohat, M. ; Fischel-Ghodsian, N. / Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness. In: Nature Genetics. 1993 ; Vol. 4, No. 3. pp. 289-294.
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