Search

Background: The human mitochondrial genome includes only 13 coding genes while nuclear-encoded genes account for 99% of proteins responsible for mitochondrial morphology, redox regulation, and energetics. Mitochondrial pathogenesis occurs in HIV patients and genetically, mitochondrial DNA haplogroups with presumed functional differences have been associated with differential AIDS progression. Methodology/Principal Findings: Here we explore whether single nucleotide polymorphisms (SNPs) within 904 of the estimated 1,500 genes that specify nuclear-encoded mitochondrial proteins (NEMPs) influence AIDS progression among HIV-1 infected patients. We examined NEMPs for association with the rate of AIDS progression using genotypes generated by an Affymetrix 6.0 genotyping array of 1,455 European American patients from five US AIDS cohorts. Successfully genotyped SNPs gave 50% or better haplotype coverage for 679 of known NEMP genes. With a Bonferroni adjustment for the number of genes and tests examined, multiple SNPs within two NEMP genes showed significant association with AIDS progression: acyl-CoA synthetase medium-chain family member 4 (ACSM4) on chromosome 12 and peroxisomal D3,D2-enoyl- CoA isomerase (PECI) on chromosome 6. Conclusions: Our previous studies on mitochondrial DNA showed that European haplogroups with presumed functional differences were associated with AIDS progression and HAART mediated adverse events. The modest influences of nuclear-encoded mitochondrial genes found in the current study add support to the idea that mitochondrial function plays a role in AIDS pathogenesis. [ABSTRACT FROM AUTHOR]

Examines the relationship of human leukocyte antigen (HLA) class I and transporter associated with antigen processing genes with resistance to HIV-1 infection. Effect of the presence of the subgroup alleles; Possibility for the differential preferences for amino acids at the C terminus to influence peptide-binding capacity.

The article presents a study on the effect of host genetics on human immunodeficiency virus neuroretinal disorder (HIV-NRD) in patients with AIDS. It notes the loss of contrast sensitivity that is sufficient to impair reading speed. It mentions the validated AIDS restriction gene variants in evaluating the effect of host genes on HIV-NRD which has been implicated to influence HIV-1 infection, AIDS progression, therapy response, and antiviral drug metabolism.