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

Valerio Carelli, Lodovica Vergani, Barbara Bernazzi, Claudia Zampieron, Laura Bucchi, Maria Lucia Valentino, Chiara Rengo, Antonio Torroni, Andrea Martinuzzi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)7-14
Number of pages8
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1588
Issue number1
DOIs
Publication statusPublished - Oct 9 2002

Keywords

  • Cybrid
  • Haplogroup J
  • LHON
  • Mitochondrial haplogroup
  • mtDNA

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biophysics

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