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Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy.
- Source :
-
Biochimica et biophysica acta [Biochim Biophys Acta] 2002 Oct 09; Vol. 1588 (1), pp. 7-14. - Publication Year :
- 2002
-
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.
- Subjects :
- Clone Cells
Culture Media
DNA, Mitochondrial genetics
Electron Transport Complex I
Enzyme Inhibitors pharmacology
Europe
Humans
Hybrid Cells
Mutation
NADH, NADPH Oxidoreductases antagonists & inhibitors
Optic Atrophy, Hereditary, Leber genetics
Polymorphism, Restriction Fragment Length
Rotenone pharmacology
Tumor Cells, Cultured
DNA, Mitochondrial metabolism
Optic Atrophy, Hereditary, Leber metabolism
Oxygen Consumption genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0006-3002
- Volume :
- 1588
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Biochimica et biophysica acta
- Publication Type :
- Academic Journal
- Accession number :
- 12379308
- Full Text :
- https://doi.org/10.1016/s0925-4439(02)00097-2