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Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G.

Scientific reports - 27 Jun 2023

Smullen Molly, Olson Meagan N, Murray Liam F, Suresh Madhusoodhanan, Yan Guang, Dawes Pepper, Barton Nathaniel J, Mason Jivanna N, Zhang Yucheng, Fernandez-Fontaine Aria A, Church George M, Mastroeni Diego, Wang Qi, Lim Elaine T, Chan Yingleong, Readhead Benjamin

Abstract excerpt

Mitochondrial (MT) dysfunction has been associated with several neurodegenerative diseases including Alzheimer's disease (AD). While MT-copy number differences have been implicated in AD, the effect of MT heteroplasmy on AD has not been well characterized. Here, we analyzed over 1800 whole genome sequencing data from four AD cohorts in seven different tissue types to determine the extent of MT heteroplasmy...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 37369829
DOI: 10.1038/s41598-023-37541-y
PMCID: PMC10300032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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