title: Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells.
abstract: BACKGROUND
  Epidemiological case-control studies have revealed associations between mitochondrial haplogroups and the onset and/or progression of various multifactorial diseases. For instance, mitochondrial haplogroup T was previously shown to be associated with vascular diseases, including coronary artery disease and diabetic retinopathy. In contrast, haplogroup H, the most frequent haplogroup in Europe, is often found to be more prevalent in healthy control subjects than in patient study groups. However, justifications for the assumption that haplogroups are functionally distinct are rare. Therefore, we attempted to compare differences in mitochondrial function between haplogroup H and T cybrids.
  
  
  RESULTS
  Mitochondrial haplogroup H and T cybrids were generated by fusion of HEK293 cells devoid of mitochondrial DNA with isolated thrombocytes of individuals with the respective haplogroups. These cybrid cells were analyzed for oxidative phosphorylation (OXPHOS) enzyme activities, mitochondrial DNA (mtDNA) copy number, growth rate and susceptibility to reactive oxygen species (ROS). We observed that haplogroup T cybrids have higher survival rate when challenged with hydrogen peroxide, indicating a higher capability to cope with oxidative stress.
  
  
  CONCLUSIONS
  The results of this study show that functional differences exist between HEK293 cybrid cells which differ in mitochondrial genomic background.
authors.affiliation: Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
authors.forename: Edith E
authors.initials: EE
authors.lastname: Mueller
authors.forename: Susanne M
authors.initials: SM
authors.lastname: Brunner
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Mayr
authors.forename: Olaf
authors.initials: O
authors.lastname: Stanger
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sperl
authors.forename: Barbara
authors.initials: B
authors.lastname: Kofler
mesh_terms: D049109:Cell Proliferation; D004272:DNA, Mitochondrial / Q000235:genetics; D018628:Gene Dosage / Q000235:genetics; D057809:HEK293 Cells / Q000166:cytology* / Q000378:metabolism; D006239:Haplotypes; D006801:Humans; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism; D010085:Oxidative Phosphorylation; D018384:Oxidative Stress / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial