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. 2024 Nov:79:101949.
doi: 10.1016/j.mito.2024.101949. Epub 2024 Aug 30.

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

Greg S Gojanovich  1 , Carmen J Marsit  2 , Deborah Kacanek  3 , Jonathan Russell  3 , Gavin Hudson  4 , Russell B Van Dyke  5 , Ali B Naini  6 , Mariana Gerschenson  7 ; Pediatric HIV/AIDS Cohort Study
Affiliations

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

Greg S Gojanovich et al. Mitochondrion. 2024 Nov.

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.

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Conflict of interest statement

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Dr. Gojanovich is now an Asklepios BioPharmaceuticals, Inc employee. None were declared for the remaining authors.

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