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

Lookup NU author(s): Professor Gavin Hudson

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Abstract

© 2024 The AuthorsThe 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.

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Author(s): Gojanovich GS, Marsit CJ, Kacanek D, Russell J, Hudson G, Van Dyke RB, Naini AB, Gerschenson M

Publication type: Article

Publication status: Published

Journal: Mitochondrion

Year: 2024

Volume: 79

Print publication date: 01/11/2024

Online publication date: 30/08/2024

Acceptance date: 27/08/2024

Date deposited: 16/09/2024

ISSN (print): 1567-7249

ISSN (electronic): 1872-8278

Publisher: Elsevier B.V.

URL: https://doi.org/10.1016/j.mito.2024.101949

DOI: 10.1016/j.mito.2024.101949

PubMed id: 39218053

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