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Article

De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology.

Journal of human genetics - 1 Jan 2006

Zhadanov Sergey I, Atamanov Vasiliy V, Zhadanov Nikolay I, Schurr Theodore G

Abstract excerpt

Recent studies suggest that certain mutations with phylogeographic importance as haplogroup markers may also influence the phenotypic expression of particular mitochondrial disorders. One such disorder, Leber's hereditary optic neuropathy (LHON), demonstrates a clear expression bias in mtDNAs belonging to haplogroup J, a West Eurasian maternal lineage defined by polymorphic markers that have been called...

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

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Share to Optic Atrophy, Hereditary, Leber

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Identifiers

PMID: 16418878
DOI: 10.1007/s10038-005-0340-y

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology.PMID 16418878Read ↗

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.Semantic proximity Read ↗

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathySemantic proximity Read ↗

A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.Semantic proximity Read ↗

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.Semantic proximity Read ↗

Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.Semantic proximity Read ↗

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.Semantic proximity Read ↗

The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.Semantic proximity Read ↗

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.Semantic proximity Read ↗

Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients.Semantic proximity Read ↗

High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients.Semantic proximity Read ↗

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.Semantic proximity Read ↗

Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing.Semantic proximity Read ↗

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