Mitochondrial profiles of an African HIV-1 pediatric population at the extremes of disease progression

Mitochondrial genetics and HIV infection have a bidirectional interplay; environmental stressors during HIV infection, such as exposure to the virus and antiretroviral therapy (ART), may result in mitochondrial impairment, while mitochondrial genetics may influence the rate of HIV/AIDS progression. Mwesigwa’s study proposes to investigate the effects of ART and demographic factors such as age on the relative amount of mitochondria (estimated by mitochondria DNA copy numbers/mtDNA CN). A second aim of his study is to test the association between mitochondrial haplogroups (i.e. groups of people who share similar mitochondrial DNA) and pediatric HIV disease progression. This study uses data obtained by using a next-generation sequencing approach called Whole-exome sequencing (WES) that sequences the protein-coding regions of the genome (exome). WES data from a retrospective cohort of 813 HIV-1 infected children recruited from Uganda and Botswana will be utilised. Results from this work could offer valuable information to improve the quality of life for current and future patients by managing subclinical toxicities of highly active ART (HAART) and potential long-term side effects.

SANTHE is an Africa Health Research Institute (AHRI) flagship programme funded by the Science for Africa Foundation through the DELTAS Africa programme; the Bill & Melinda Gates Foundation; Gilead Sciences Inc.; and the Ragon Institute of Mass General, MIT, and Harvard.