ArticleHuman molecular genetics2015
Mitochondrial DNA variants can mediate methylation status of inflammation, angiogenesis and signaling genes.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci.Human molecular genetics · 2022Pooled it
- Low frequency mitochondrial DNA heteroplasmy SNPs in blood, retina, and [RPE+choroid] of age-related macular degeneration subjects.PloS one · 2021Trial
- Trial
- Humanin G (HNG) protects age-related macular degeneration (AMD) transmitochondrial ARPE-19 cybrids from mitochondrial and cellular damage.Cell death & disease · 2017Trial
- Hypoxia and TTR dysregulation in astrocytes from Parkinson's disease with a specific mitochondrial haplogroup: A single-cell analysis.Neural regeneration research · 2026Article
- Neuroprotective Effect of Intraperitoneal Humanin-G in Retinal Degeneration of Royal College of Surgeons Rats.Research square · 2026Article
- Neuroprotective Effect of Intraperitoneal Humanin-G in Retinal Degeneration of Royal College of Surgeons Rats.bioRxiv : the preprint server for biology · 2026Article
- Mitochondrial ecosystem restoration in Alzheimer's disease: from mechanisms to multi-target therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- Increased Mitochondrial Common Deletion in Oligo-Astheno-Teratozoospermia Samples Is Not Correlated with Increased Global DNA Methylation: Unexpected Results for ATP Levels.International journal of fertility & sterility · 2025Article
- Twin pair analysis uncovers links between DNA methylation, mitochondrial DNA quantity and obesity.Nature communications · 2025Article
- Single-cell RNA Sequencing Identifies Natural Kill Cell-Related Transcription Factors Associated With Age-Related Macular Degeneration.Evolutionary bioinformatics online · 2024Article
- Cyclic GMP-AMP Synthase in Cancer Prevention.Journal of cancer prevention · 2023Review
- Mitochondrial Genetics and Function as Determinants of Bone Phenotype and Aging.Current osteoporosis reports · 2023Review
- Article
- Altered Retrograde Signaling Patterns in Breast Cancer Cells Cybrids with H and J Mitochondrial DNA Haplogroups.International journal of molecular sciences · 2022Article
- Mitochondrial Epigenetics Regulating Inflammation in Cancer and Aging.Frontiers in cell and developmental biology · 2022Review
- Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.Frontiers in genetics · 2022Article
- The role of mitochondria in the pathogenesis of Kawasaki disease.Frontiers in immunology · 2022Article
- Mitochondria and Their Relationship with Common Genetic Abnormalities in Hematologic Malignancies.Life (Basel, Switzerland) · 2021Review
- Mitochondrial metabolism and DNA methylation: a review of the interaction between two genomes.Clinical epigenetics · 2020Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
Mitochondrial (mt) DNA can be classified into haplogroups representing different geographic and/or racial origins of populations. The H haplogroup is protective against age-related macular degeneration (AMD), while the J haplogroup is high risk for AMD. In the present study, we performed comparison analyses of human retinal cell cybrids, which possess identical nuclei, but mtDNA from subjects with either the H or J haplogroups, and demonstrate differences in total global methylation, and expression patterns for two genes related to acetylation and five genes related to methylation. Analyses revealed that untreated-H and -J cybrids have different expression levels for nuclear genes (CFH, EFEMP1, VEGFA and NFkB2). However, expression levels for these genes become equivalent after treatment with a methylation inhibitor, 5-aza-2'-deoxycytidine. Moreover, sequencing of the entire mtDNA suggests that differences in epigenetic status found in cybrids are likely due to single nucleotide polymorphisms (SNPs) within the haplogroup profiles rather than rare variants or private SNPs. In conclusion, our findings indicate that mtDNA variants can mediate methylation profiles and transcription for inflammation, angiogenesis and various signaling pathways, which are important in several common diseases.
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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.