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Publication Abstract Display
Type: Published Manuscript
Title: Mitochondrial DNA mutation pathogenicity score and neurocognitive performance in persons with HIV.
Authors: Volpe KE, Samuels DC, Elson JL, Steyn JS, Gebretsadik T, Ellis RJ, Heaton RK, Kallianpur AR, Letendre S, Hulgan T
Year: 2024
Publication: Mitochondrion
Volume: 74 Issue: Pages: 101820
Abstract:Mitochondrial DNA (mtDNA) genetic variation is associated with neurocognitive (NC) impairment (NCI) in people with HIV (PWH). Other approaches use sequence conservation and protein structure to predict the impact of mtDNA variants on protein function. We examined predicted mtDNA variant pathogenicity in the CHARTER study using MutPred scores, hypothesizing that persons with higher scores (greater predicted pathogenicity) have more NCI.

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