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

IF 3.9 3区生物学 Q2 CELL BIOLOGY Mitochondrion Pub Date : 2024-08-30 DOI:10.1016/j.mito.2024.101949

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

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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.

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围产期感染艾滋病毒和抗逆转录病毒疗法的未感染儿童的线粒体 DNA 变异与特定临床诊断的关系。

本研究评估了围产期暴露于艾滋病毒和抗逆转录病毒疗法但仍未感染的青少年（YHEU）线粒体（mt）DNA中致病突变的发生率与线粒体功能障碍（MtD）表型临床指标的相关性。这是一项横断面巢式病例对照研究。共有 144 个病例符合至少一个临床 MtD 定义，并与最多两个对照组进行了配对（n = 287）。几乎所有的 YHEU（97%）都存在至少一种风险突变。代谢或神经发育病例与各自的对照组之间的突变频率没有差异；但是，对照组与各自的神经或生长病例之间的突变频率较高。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Mitochondrion 生物-细胞生物学

CiteScore

9.40

自引率

4.50%

发文量

审稿时长

13.6 weeks

期刊介绍： Mitochondrion is a definitive, high profile, peer-reviewed international research journal. The scope of Mitochondrion is broad, reporting on basic science of mitochondria from all organisms and from basic research to pathology and clinical aspects of mitochondrial diseases. The journal welcomes original contributions from investigators working in diverse sub-disciplines such as evolution, biophysics, biochemistry, molecular and cell biology, genetics, pharmacology, toxicology, forensic science, programmed cell death, aging, cancer and clinical features of mitochondrial diseases.