Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy

Biochim Biophys Acta. 2002 Oct 9;1588(1):7-14. doi: 10.1016/s0925-4439(02)00097-2.

Abstract

The possibility that some combinations of mtDNA polymorphisms, previously associated with Leber's hereditary optic neuropathy (LHON), may affect mitochondrial respiratory function was tested in osteosarcoma-derived transmitochondrial cytoplasmic hybrids (cybrids). In this cellular system, in the presence of the same nuclear background, different exogenous mtDNAs are used to repopulate a parental cell line previously devoid of its original mtDNA. No detectable differences in multiple parameters exploring respiratory function were observed when mtDNAs belonging to European haplogroups X, H, T and J were used. Different possible explanations for the previously established association between haplogroup J and LHON 11778/ND4 and 14484/ND6 pathogenic mutations are discussed, including the unconventional proposal that mtDNA haplogroup J may exert a protective rather than detrimental effect.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Clone Cells
  • Culture Media
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism*
  • Electron Transport Complex I
  • Enzyme Inhibitors / pharmacology
  • Europe
  • Humans
  • Hybrid Cells
  • Mutation
  • NADH, NADPH Oxidoreductases / antagonists & inhibitors
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Atrophy, Hereditary, Leber / metabolism*
  • Oxygen Consumption / genetics*
  • Polymorphism, Restriction Fragment Length
  • Rotenone / pharmacology
  • Tumor Cells, Cultured

Substances

  • Culture Media
  • DNA, Mitochondrial
  • Enzyme Inhibitors
  • Rotenone
  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I