A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy

Mitochondrion. 2005 Jun;5(3):194-9. doi: 10.1016/j.mito.2005.03.003.

Abstract

We have analyzed mitochondrial DNA sequence in 15 Russian LHON patients and found the new mtDNA sequence variant in one family (2 patients) who showed 100% penetrance of the disease in men. This family has a T14484C primary mutation, and four secondary mutations (T4216C, G13708A, G15812A, G15257A), which belong to the European haplogroup J. The new sequence variant of A9016G in the ATPase 6 gene changed highly conserved amino acid of isoleucine to valine, has not been found in the rest of 13 LHON patients and controls. This novel sequence variant may contribute to the 100% penetration of LHON disorder in men of this family.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • DNA, Mitochondrial / chemistry
  • DNA, Mitochondrial / genetics*
  • European Continental Ancestry Group
  • Female
  • Genetic Variation*
  • Haplotypes
  • Humans
  • Male
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Optic Atrophy, Hereditary, Leber / pathology
  • Pedigree
  • Penetrance*
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Russia
  • Sequence Analysis, DNA*
  • Valine / metabolism

Substances

  • DNA, Mitochondrial
  • Valine