期刊
EPIGENOMICS
卷 10, 期 11, 页码 1431-1443出版社
FUTURE MEDICINE LTD
DOI: 10.2217/epi-2018-0072
关键词
amyotrophic lateral sclerosis; D-loop mitochondrial region; epigenetics; mitochondrial DNA methylation; mtDNA copy number; SOD1
资金
- ATENEO Funds, University of Pisa
- ASSOCIAZIONE IO CORRO CON GIOVANNI
Aim: To investigate mitochondrial DNA (mtDNA) copy number and D-loop region methylation in carriers of SOD1, TARDBP, FUS and C9orf72 mutations. Methods: Investigations were performed in blood DNA from 114 individuals, including amyotrophic lateral sclerosis (ALS) patients, presymptomatic carriers and noncarrier family members. Results: Increased mtDNA copy number (p = 0.0001) was observed in ALS patients, and particularly in those with SOD1 or C9orf72 mutations. SOD1 mutation carriers showed also a significant decrease in D-loop methylation levels (p = 0.003). An inverse correlation between D-loop methylation levels and the mtDNA copy number (p = 0.0005) was observed. Conclusion: Demethylation of the D-loop region could represent a compensatory mechanism for mtDNA upregulation in carriers of ALS-linked SOD1 mutations.
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