Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

C. M. Sue, K. Tanji, G. Hadjigeorgiou, A. L. Andreu, I. Nishino, S. Krishna, C. Bruno, M. Hirano, S. Shanske, E. Bonilla, N. Fischel-Ghodsian, S. DiMauro, R. Friedman

Research output: Contribution to journalArticlepeer-review

Abstract

Thirty-six of 43 maternally related members of a large African American family experienced hearing loss. A muscle biopsy specimen from the proband showed cytochrome c oxidase (COX)-deficient fibers but no ragged-red fibers; biochemical analysis showed marked reduction of COX activity. A novel T7511C point mutation in the tRNA((Ser)(UCN)) gene was present in almost homoplasmic levels (>95%) in the blood of 18 of 20 family members, and was also found in lower abundance in the other two. Single-fiber PCR showed that the mutational load was greater in COX-deficient muscle fibers. The tRNA((Ser)(UCN)) gene may be a 'hot spot' for mutations associated with maternally transmitted hearing loss.

Original languageEnglish
Pages (from-to)1905-1908
Number of pages4
JournalNeurology
Volume52
Issue number9
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Neuroscience(all)

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