Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.

doi:10.1093/hmg/dds182

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Article

Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.

Human molecular genetics - 1 Sept 2012

Petruzzella Vittoria, Carrozzo Rosalba, Calabrese Claudia, Dell'Aglio Rosa, Trentadue Raffaella, Piredda Roberta, Artuso Lucia, Rizza Teresa, Bianchi Marzia, Porcelli Anna Maria, Guerriero Silvana, Gasparre Giuseppe, Attimonelli Marcella

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is associated with mitochondrial DNA (mtDNA) ND mutations that are mostly homoplasmic. However, these mutations are not sufficient to explain the peculiar features of penetrance and the tissue-specific expression of the disease and are believed to be causative in association with unknown environmental or other genetic factors. Discerning between clear-cut pathogenetic...

Topics

Adenosine Triphosphate
Adolescent
Adult
Cell Nucleus
DNA, Mitochondrial
Electron Transport Complex I
Energy Metabolism
Female
Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Humans

Male

Middle Aged

Mitochondria

Mitochondrial Proteins

Mutation

Optic Atrophy, Hereditary, Leber

Pedigree

Source

Open in PubMed

Identifiers

PMID: 22589247
DOI: 10.1093/hmg/dds182

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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