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Article

Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.

Laboratory investigation; a journal of technical methods and pathology - 1 Apr 2007

Lewis William, Day Brian J, Kohler James J, Hosseini Seyed H, Chan Sherine S L, Green Elgin C, Haase Chad P, Keebaugh Erin S, Long Robert, Ludaway Tomika, Russ Rodney, Steltzer Jeffrey, Tioleco Nina, Santoianni Robert, Copeland William C

Abstract excerpt

POLG is the human gene that encodes the catalytic subunit of DNA polymerase gamma (Pol gamma), the replicase for human mitochondrial DNA (mtDNA). A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mitochondrial disease with eye muscle weakness and mtDNA defects. Y955C POLG was targeted transgenically (TG) to the murine heart. Survival was determined in four TG (+/-)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17310215
DOI: 10.1038/labinvest.3700523
PMCID: PMC1831462

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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