The study:
Abstract
https://pubmed.ncbi.nlm.nih.gov/19005266/
Objective: Mitochondrial function plays a role in both AIDS progression and HAART toxicity; therefore, we sought to determine whether mitochondrial DNA variation revealed novel AIDS restriction genes, particularly as mitochondrial DNA single-nucleotide polymorphisms are known to influence regulation of oxidative phosphorylation, reactive oxygen species production, and apoptosis.
Design: This is a retrospective cohort study.
Methods: We performed an association study of mitochondrial DNA haplogroups among 1833 European American HIV-1 patients from five US cohorts: the Multicenter AIDS Cohort Study, the San Francisco City Clinic Study, Hemophilia Growth and Development Study, the Multicenter Hemophilia Cohort Study, and the AIDS Linked to Intravenous Experiences cohort to determine whether the mitochondrial DNA haplogroup correlated with AIDS progression rate.
Results: Mitochondrial DNA haplogroups J and U5a were elevated among HIV-1 infected people who display accelerated progression to AIDS and death. Haplogroups Uk, H3, and IWX appeared to be highly protective against AIDS progression.
Conclusion: The associations found in our study appear to support a functional explanation by which mitochondrial DNA variation among haplogroups, influencing ATP production, reactive oxygen species generation, and apoptosis, is correlated to AIDS disease progression; however, repeating these results in cohorts with different ethnic backgrounds would be informative. These data suggest that mitochondrial genes are important indicators of AIDS disease progression in HIV-1 infected persons.
H3 is found throughout the whole of Europe and in the Maghreb but does not exist in the Far East and is believed to have originated among Mesolithic hunter-gatherers in south-western Europe between 9 000 and 11 000 years ago. H3 represents the second largest fraction of the H genome after H1 and has a somewhat similar distribution, with peaks in Portugal, Spain, Scandinavia and Finland. It is common in Portugal (12%), Sardinia (11%), Galicia (10%), the Basque country (10%), Ireland (6%), Norway (6%), Hungary (6%) and southwestern France (5%). Studies have suggested haplogroup H3 is highly protective against AIDS progression.
Example of H3 sub-groups are:
- H3a and H3g, found in north-west Europe;
- H3b and H3k, found in the British Isles and Catalonia;
- H3c, found in Western Europe, including among the Basques;
- H3h, found throughout northern Europe, including the remains of Cerdic (519 to 534), King of Wessex;
- H3i found in Ireland and Scotland;
- H3j found in Italy;
- H3v found especially in Germanic countries and;
- H3z found in Atlantic Europe.
The basal H3* haplogroup is found among the Tuareg inhabiting the Gossi area in Mali (4.76%).