Molecular genetic analysis of Leber's hereditary optic neuropathy with the 3460 mutation in Japanese pedigrees

Y. Hiida, Y. Mashima, M. Saga, M. Shuu, S. Akiya, J. Kudoh, N. Shimizu, Y. Oguchi

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Abstract

We have identified a point mutation at nucleotide position 3460 in the ND1 gene of complex I in a Japanese pedigree with Leber's hereditary optic neuropathy by sequencing the ND genes in mitochondrial DNA. None of the 60 healthy Japanese had the 3460 mutation. The proband and his mother also had the 7444 mutation in the COI gene of complex IV and became nearly blind at age 19 with visual acuities of 0.02 OD and 0.04 OS we screened 30 patients with bilateral optic atrophy for the 3460 mutation, and identified one male patient who had the 3460 mutation in heteroplasmic fashion without carrying the 7444 mutation. He lost his sight at age 14 but it recovered to 1.2 OD and 0.7 OS about two years and half after the onset. The difference in final visual acuity between these two patients may reflect the degree of reduction in mitochondrial energy production.

Original languageEnglish
Pages (from-to)728-734
Number of pages7
JournalJournal of Japanese Ophthalmological Society
Volume99
Issue number6
Publication statusPublished - 1995 Jan 1

Keywords

  • 3460 mutation
  • 7444 mutation
  • Leber's hereditary optic neuropathy
  • Mitochondrial DNA
  • Visual recovery

ASJC Scopus subject areas

  • Medicine(all)

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    Hiida, Y., Mashima, Y., Saga, M., Shuu, M., Akiya, S., Kudoh, J., Shimizu, N., & Oguchi, Y. (1995). Molecular genetic analysis of Leber's hereditary optic neuropathy with the 3460 mutation in Japanese pedigrees. Journal of Japanese Ophthalmological Society, 99(6), 728-734.