Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected children
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.
Authors
- Carmen J. Marsit (ORCID: https://orcid.org/0000-0003-4566-150X)
- Greg S. Gojanovich
- Jonathan S. Russell (ORCID: https://orcid.org/0000-0001-9161-4291)
- Mariana Gerschenson (ORCID: https://orcid.org/0000-0002-8615-5964)
- Gavin Hudson (ORCID: https://orcid.org/0000-0001-7210-2733)
- Ali Naini (ORCID: https://orcid.org/0000-0002-8030-1115)
- Deborah Kacanek (ORCID: https://orcid.org/0000-0002-4877-2646)
- Russell B. Van Dyke
Institutions
- Tulane University (US)
- University of Hawaiʻi at Mānoa (US)
- Emory University (US)
- Cancer Research And Biostatistics (US)
- Columbia University (US)
- Newcastle University (GB)
Publication Details
- Journal
- Mitochondrion
- Published
- 2024-08-30
- DOI
- https://doi.org/10.1016/j.mito.2024.101949
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- U.S. Department of Health and Human Services
- State University of New York
- Tulane University
- Harvard T.H. Chan School of Public Health
- York University
- National Institutes of Health
- University of California, San Diego
- SUNY Downstate Medical Center
- NYU Grossman School of Medicine
- National Institute on Alcohol Abuse and Alcoholism
- National Heart, Lung, and Blood Institute
- National Institute of Mental Health
- National Institute on Drug Abuse
- National Cancer Institute
- National Institute on Deafness and Other Communication Disorders
- National Institute of General Medical Sciences
- National Institute of Allergy and Infectious Diseases
- National Institute of Neurological Disorders and Stroke
- National Institute of Child Health and Human Development
- National Institute of Dental and Craniofacial Research
- National Institute on Minority Health and Health Disparities
- Eunice Kennedy Shriver National Institute of Child Health and Human Development