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Polymorphisms of genes required for methionine synthesis and DNA methylation influence mitochondrial DNA methylation.
- Source :
-
Epigenomics [Epigenomics] 2020 Jun; Vol. 12 (12), pp. 1003-1012. Date of Electronic Publication: 2020 May 12. - Publication Year :
- 2020
-
Abstract
- Aim: Impaired methylation of the mitochondrial DNA and particularly in the regulatory displacement loop (D-loop) region, is increasingly observed in patients with neurodegenerative disorders. The present study aims to investigate if common polymorphisms of genes required for one-carbon metabolism ( MTHFR, MTRR, MTR and RFC-1 ) and DNA methylation reactions ( DNMT1, DNMT3A and DNMT3B ) influence D-loop methylation levels. Materials & methods: D-loop methylation data were available from 133 late-onset Alzheimer's disease patients and 130 matched controls. Genotyping was performed with PCR-RFLP or high resolution melting techniques. Results: Both MTRR 66A > G and DNMT3A -448A > G polymorphisms were significantly associated with D-loop methylation levels. Conclusion: This exploratory study suggests that MTRR and DNMT3A polymorphisms influence mitochondrial DNA methylation; further research is required to better address this issue.
- Subjects :
- 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
Aged
Aged, 80 and over
Case-Control Studies
DNA (Cytosine-5-)-Methyltransferase 1
DNA (Cytosine-5-)-Methyltransferases
DNA Methyltransferase 3A
Female
Ferredoxin-NADP Reductase
Genotype
Humans
Male
Methylenetetrahydrofolate Reductase (NADPH2)
Polymorphism, Single Nucleotide
Replication Protein C
DNA Methyltransferase 3B
Alzheimer Disease genetics
DNA Methylation
DNA, Mitochondrial
Methionine biosynthesis
Subjects
Details
- Language :
- English
- ISSN :
- 1750-192X
- Volume :
- 12
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Epigenomics
- Publication Type :
- Academic Journal
- Accession number :
- 32393056
- Full Text :
- https://doi.org/10.2217/epi-2020-0041