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Article

The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity.

PloS one - 19 Nov 2009

Ghelli Anna, Porcelli Anna Maria, Zanna Claudia, Vidoni Sara, Mattioli Stefano, Barbieri Anna, Iommarini Luisa, Pala Maria, Achilli Alessandro, Torroni Antonio, Rugolo Michela, Carelli Valerio

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors. Indeed, the mtDNA background defined as haplogroup J is known to increase the penetrance of the 11778/ND4 and 14484/ND6 mutations. Recently it was also documented...

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PMID: 19936068
DOI: 10.1371/journal.pone.0007922
PMCID: PMC2774515

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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