ArticlePloS one2013
Mitochondrial sequence variation in African-American primary open-angle glaucoma patients.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Semaglutide Protects Retinal Ganglion Cells Against Rotenone-Induced Degeneration via Improved Glucose Metabolism.Investigative ophthalmology & visual science · 2026Article
- Massively parallel sequencing of mitochondrial genome in primary open angle glaucoma identifies somatically acquired mitochondrial mutations in ocular tissue.Scientific reports · 2024Article
- Peripheral blood mononuclear cell respiratory function is associated with progressive glaucomatous vision loss.Nature medicine · 2024Article
- Glial metabolic alterations during glaucoma pathogenesis.Frontiers in ophthalmology · 2023Review
- AMPK hyperactivation promotes dendrite retraction, synaptic loss, and neuronal dysfunction in glaucoma.Molecular neurodegeneration · 2021Article
- Neuroinflammatory Mechanisms of Mitochondrial Dysfunction and Neurodegeneration in Glaucoma.Journal of ophthalmology · 2021Review
- Mitochondrial haplogroup L1c2 is associated with increased disease severity in African American patients with primary open-angle glaucoma.Journal of clinical & experimental ophthalmology · 2019Article
- Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma.Investigative ophthalmology & visual science · 2018Article
- Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago.BMC evolutionary biology · 2018Article
- The MT-CO1 V83I Polymorphism is a Risk Factor for Primary Open-Angle Glaucoma in African American Men.Investigative ophthalmology & visual science · 2018Article
- Glaucoma as a Metabolic Optic Neuropathy: Making the Case for Nicotinamide Treatment in Glaucoma.Journal of glaucoma · 2017Review
- Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans.Molecular vision · 2016Article
- The genetic mechanisms of primary angle closure glaucoma.Eye (London, England) · 2015Review
- Primary Open-Angle Glaucoma in Individuals of African Descent: A Review of Risk Factors.Journal of clinical & experimental ophthalmology · 2015Article
- Mitochondrial A12308G alteration in tRNA(Leu(CUN)) in colorectal cancer samples.Diagnostic pathology · 2015Article
- Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Extranuclear DNA Variations in the Susceptibility of Glaucoma.Middle East African journal of ophthalmologyReview
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Primary open-angle glaucoma (POAG) is a major cause of blindness and results from irreversible retinal ganglion cell damage and optic nerve degeneration. In the United States, POAG is most prevalent in African-Americans. Mitochondrial genetics and dysfunction have been implicated in POAG, and potentially pathogenic sequence variations, in particular novel transversional base substitutions, are reportedly common in mitochondrial genomes (mtDNA) from POAG patient blood. The purpose of this study was to ascertain the spectrum of sequence variation in mtDNA from African-American POAG patients and determine whether novel nonsynonymous, transversional or other potentially pathogenic sequence variations are observed more commonly in POAG cases than controls. mtDNA from African-American POAG cases (n = 22) and age-matched controls (n = 22) was analyzed by deep sequencing of a single 16,487 base pair PCR amplicon by Ion Torrent, and candidate novel variants were validated by Sanger sequencing. Sequence variants were classified and interpreted using the MITOMAP compendium of polymorphisms. 99.8% of the observed variations had been previously reported. The ratio of novel variants to POAG cases was 7-fold lower than a prior estimate. Novel mtDNA variants were present in 3 of 22 cases, novel nonsynonymous changes in 1 of 22 cases and novel transversions in 0 of 22 cases; these proportions are significantly lower (p<.0005, p<.0004, p<.0001) than estimated previously for POAG, and did not differ significantly from controls. Although it is possible that mitochondrial genetics play a role in African-Americans' high susceptibility to POAG, it is unlikely that any mitochondrial respiratory dysfunction is due to an abnormally high incidence of novel mutations that can be detected in mtDNA from peripheral blood.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.