Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected children

Greg S Gojanovich; Carmen J Marsit; Deborah Kacanek; Jonathan Russell; Gavin Hudson; Russell B Van Dyke; Ali B Naini; Mariana Gerschenson; Pediatric HIV/AIDS Cohort Study

doi:10.1016/j.mito.2024.101949

Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected children

Mitochondrion. 2024 Aug 30:79:101949. doi: 10.1016/j.mito.2024.101949. Online ahead of print.

Authors

Greg S Gojanovich¹, Carmen J Marsit², Deborah Kacanek³, Jonathan Russell³, Gavin Hudson⁴, Russell B Van Dyke⁵, Ali B Naini⁶, Mariana Gerschenson⁷; Pediatric HIV/AIDS Cohort Study

Affiliations

¹ Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA.
² Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
³ Center for Biostatistics in AIDS Research, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
⁴ Biosciences Institute, Newcastle University, Newcastle, UK.
⁵ Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA.
⁶ Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
⁷ Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA. Electronic address: gerschen@hawaii.edu.

PMID: 39218053
DOI: 10.1016/j.mito.2024.101949

Abstract

The prevalence of pathogenic mutations within mitochondrial (mt) DNA of youth who were perinatally exposed to HIV and ART but remained uninfected (YHEU) were assessed relative to phenotypic clinical indicators of mitochondrial dysfunction (MtD). This was a cross-sectional, nested case-control study. A total of 144 cases met at least one clinical MtD definition and were matched with up to two controls each (n = 287). At least one risk mutation was present in nearly all YHEU (97 %). No differences in mutation frequencies were observed between metabolic or neurodevelopmental cases and respective controls; however, higher frequencies were found in controls versus respective neurologic or growth cases.

Keywords: Antiretroviral; Base sequence; HIV; Mitochondrial; Youth.

Grants and funding

U54 MD007601/MD/NIMHD NIH HHS/United States