May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Molecular Bases of Leber’s Hereditary Optic Neuropathy in Chinese Population
Author Affiliations & Notes
  • M.-X. Guan
    Human Genetics, Cincinnati Children''s Hospital Medical Center, Cincinnati, Ohio
    Ophthalmology, Wenzhou Medical College, Wenzhou, China
  • X. Zhou
    Ophthalmology, Wenzhou Medical College, Wenzhou, China
  • Y. Tong
    Ophthalmology, Fujian Medical University, Fuzhou, China
  • Q. Wei
    Ophthalmology, Beijing University of Chinese Medicine and Pharmacology, Beijing, China
  • F. Zhao
    Ophthalmology, Wenzhou Medical College, Wenzhou, China
  • L. Yang
    Human Genetics, Cincinnati Children''s Hospital Medical Center, Cincinnati, Ohio
    Ophthalmology, Wenzhou Medical College, Wenzhou, China
  • R. Li
    Human Genetics, Cincinnati Children''s Hospital Medical Center, Cincinnati, Ohio
  • Y. Qian
    Human Genetics, Cincinnati Children''s Hospital Medical Center, Cincinnati, Ohio
  • Y. Mao
    Ophthalmology, Wenzhou Medical College, Wenzhou, China
  • J. Qu
    Ophthalmology, Wenzhou Medical College, Wenzhou, China
  • Footnotes
    Commercial Relationships M. Guan, None; X. Zhou, None; Y. Tong, None; Q. Wei, None; F. Zhao, None; L. Yang, None; R. Li, None; Y. Qian, None; Y. Mao, None; J. Qu, None.
  • Footnotes
    Support NIH grants DC05230, NS44015
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 1654. doi:https://doi.org/
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    • Get Citation

      M.-X. Guan, X. Zhou, Y. Tong, Q. Wei, F. Zhao, L. Yang, R. Li, Y. Qian, Y. Mao, J. Qu; Molecular Bases of Leber’s Hereditary Optic Neuropathy in Chinese Population. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1654. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose:: To understand the molecular mechanism of Leber’s hereditary optic neuropathy (LHON) in Chinese population.

Methods:: A large cohort of Han Chinese subjects with LHON were studied by clinical and genetic evaluation as well as molecular and biochemical analysis of mitochondrial (mt)DNA.

Results:: We have identified 297 Han Chinese LHON pedigrees with the variable penetrance and expressivity. Of these, 120 pedigrees carried ND4 G11778A mutation, 13 pedigrees harbored ND6 T14484C mutation, 5 pedigrees had the ND1 G3460A mutation, and 9 pedigrees carried the ND4 G11686A mutation, while other pedigrees lacked those mutations. Subsequently, we have conducted clinical and genetic evaluations and sequence analysis of complete mtDNA genome of 40 Chinese pedigrees. These mtDNA genomes belong to different haplogroups including D,C,B,H,F and M. Interestingly, the mt tRNAMet A4435G, the tRNAThr A15951G and tRNACys G5821A variants were implicated to influence the phenotypic expression of the primary ND4 G11778A mutation in Chinese families.

Conclusions:: These data revealed the spectrum and frequency of mtDNA mutations associated with LHON in Chinese population. Our data provided the first direct genetic and biochemical evidences that mitochondrial variants modulate the phenotypic expression of vision loss associated with these primary mtDNA mutations.

Keywords: optic nerve • mitochondria • genetics 
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