Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human genetics - 1 Feb 2002

Brown Michael D, Starikovskaya Elena, Derbeneva Olga, Hosseini Seyed, Allen Jon C, Mikhailovskaya Irina E, Sukernik Rem I, Wallace Douglas C

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted form of blindness caused by mitochondrial DNA (mtDNA) mutations. Approximately 90% of LHON cases are caused by 3460A, 11778A, or 14484C mtDNA mutations. These are designated "primary" mutations because they impart a high risk for LHON expression. Although the 11778A and 14484C mutations unequivocally predispose carriers to LHON, they are...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asia
Share to Electron Transport Complex I

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

Share to Europe

Share to Lymphocytes

Share to NADH Dehydrogenase

Share to NADH, NADPH Oxidoreductases

Share to Optic Atrophy, Hereditary, Leber

Share to Oxygen Consumption

Source

Identifiers

PMID: 11935318
DOI: 10.1007/s00439-001-0660-8

Provenance

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.PMID 11935318Read ↗

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

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

Mitochondrial D-loop variation in leber hereditary neuropathy patients harboring primary G11778A, G3460A, T14484C mutations: J and W haplogroups as high-risk factors.Semantic proximity Read ↗

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

Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.Semantic proximity Read ↗

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy.Semantic proximity Read ↗

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

Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.Semantic proximity Read ↗

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.