ArticleClinical epigenetics2022
Decreased mitochondrial D-loop region methylation mediates an increase in mitochondrial DNA copy number in CADASIL.
Article in Clinical epigenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 16 citations in OpenAlex.
- Epigenetic insights of Olympic champions: nuclear and mitochondrial DNA methylation and regulators of aging.GeroScience · 2026Article
- Mitochondrial genome sequencing reveals mitochondrial single nucleotide polymorphisms and DNA haplotypes associated with egg-laying performance in chickens.Poultry science · 2026Article
- Epigenetic research methods and animal models for intervertebral disc degeneration (Review).Molecular medicine reports · 2026Review
- Mitochondrial D-Loop Region Methylation Is Not Altered in Children with Autism Spectrum Disorder.Epigenomes · 2026Article
- Changes in nuclear and mitochondrial DNA methylation in cow blood associated with age and disease.Epigenetics · 2025Article
- Study on Abnormal Angiogenesis in Moyamoya Disease via Mitochondrial D-Loop Methylation.Brain and behavior · 2025Article
- Investigating the genetic association of mitochondrial DNA copy number with neurodegenerative diseases.BMC neurology · 2025Article
- Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.Frontiers in neurology · 2025Review
- SOD mediates mitochondrial epigenetic regulation in NIHL.Frontiers in cellular neuroscience · 2025Article
- Analysis of Whole-Genome as a Novel Strategy for Animal Species Identification.International journal of molecular sciences · 2024Article
- Berberine ameliorates septic cardiomyopathy through protecting mitochondria and upregulating Notch1 signaling in cardiomyocytes.Frontiers in pharmacology · 2024Article
- Characterization of Mitochondrial DNA Methylation of Alzheimer's Disease in Plasma Cell-Free DNA.Diagnostics (Basel, Switzerland) · 2023Article
- Biomarkers of aging through the life course: A Recent Literature Update.Current opinion in epidemiology and public health · 2023Article
- Roles of Mitochondrial DNA Damage in Kidney Diseases: A New Biomarker.International journal of molecular sciences · 2022Review
- Targeted Mitochondrial Epigenetics: A New Direction in Alzheimer's Disease Treatment.International journal of molecular sciences · 2022Review
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15 authors at 1 institution in 1 country.
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Abstract
backgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a typical neurodegenerative disease associated with mitochondrial dysfunction. Methylation of the D-loop region and mitochondrial DNA copy number (mtDNAcn) play a critical role in the maintenance of mitochondrial function. However, the association between D-loop region methylation, mtDNAcn and CADASIL remains unclear.
methodsOverall, 162 individuals were recruited, including 66 CADASIL patients and 96 age- and sex-matched controls. After extracting genomic DNA from the peripheral white blood cells, levels of D-loop methylation and mtDNAcn were assessed using MethylTarget sequencing and real-time PCR, respectively.
resultsWe observed increased mtDNAcn and decreased D-loop methylation levels in CADASIL patients compared to the control group, regardless of gender stratification. Besides, we found a negative correlation between D-loop methylation levels and mtDNAcn. Mediation effect analysis shows that the proportion of the association between mtDNAcn and CADASIL that is mediated by D-loop methylation is 11.6% (95% CI 5.6, 22.6). After gender stratification, the proportions of such associations that are mediated by D-loop methylation in males and females were 7.2% (95% CI 2.4, 19.8) and 22.0% (95% CI 7.4, 50.1), respectively.
conclusionDecreased methylation of the D-loop region mediates increased mtDNAcn in CADASIL, which may be caused by a compensatory mechanism of mitochondrial dysfunction in patients with CADASIL.
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