期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1588, 期 1, 页码 7-14出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/S0925-4439(02)00097-2
关键词
mtDNA; mitochondrial haplogroup; haplogroup J; LHON; cybrid
资金
- Telethon [E.0890, 792] Funding Source: Medline
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. (C) 2002 Elsevier Science B.V. All rights reserved.
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