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Related Experiment Videos

Cytochrome b mutations in Leber hereditary optic neuropathy.

D R Johns1, M J Neufeld

  • 1Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21205.

Biochemical and Biophysical Research Communications
|December 31, 1991
PubMed
Summary

New mutations in the apocytochrome b gene were found in Leber hereditary optic neuropathy patients lacking known Complex I mutations. A significant mutation at position 15,257 suggests Complex III gene involvement in this optic neuropathy.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Mitochondrial Diseases

Background:

  • Leber hereditary optic neuropathy (LHON) is typically associated with mutations in mitochondrial Complex I genes.
  • Some LHON patients do not have known Complex I mutations, suggesting alternative genetic causes.

Purpose of the Study:

  • To investigate novel genetic mutations in the apocytochrome b gene in LHON patients without known Complex I mutations.
  • To determine the pathogenic significance of newly identified mutations.

Main Methods:

  • Genetic sequencing of the apocytochrome b gene in LHON probands.
  • Comparison of mutation frequencies between patient and control groups.
  • Analysis of mutation co-occurrence patterns.

Main Results:

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  • A novel mutation at position 15,257 in the apocytochrome b gene was identified in eight independent LHON probands.
  • This mutation, changing a conserved aspartate to asparagine, was absent in controls and deemed pathogenic.
  • The 15,257 mutation frequently co-occurred with a known synergistic mutation (13,708) and a new apocytochrome b mutation (15,812).

Conclusions:

  • Mutations in Complex III genes, specifically the apocytochrome b gene, are implicated in Leber hereditary optic neuropathy.
  • Multiple, simultaneous mitochondrial DNA mutations are common in LHON pathogenesis.
  • The identified mutation at 15,257 is a significant contributor to LHON in a subset of patients.