Mitochondrial DNA copy number and D-loop region methylation in carriers of amyotrophic lateral sclerosis gene mutations

To investigate mitochondrial DNA (mtDNA) copy number and D-loop region methylation in carriers of , , and mutations. Investigations were performed in blood DNA from 114 individuals, including amyotrophic lateral sclerosis (ALS) patients, presymptomatic carriers and noncarrier family members. Increas...

Full description

Saved in:
Bibliographic Details
Published in:Epigenomics 2018-11, Vol.10 (11), p.1431-1443
Main Authors: Stoccoro, Andrea, Mosca, Lorena, Carnicelli, Vittoria, Cavallari, Ugo, Lunetta, Christian, Marocchi, Alessandro, Migliore, Lucia, Coppedè, Fabio
Format: Article
Language:English
Subjects:
Adult
Aged
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
C9orf72 Protein - genetics
Copy number
D-loop mitochondrial region
Demethylation
Deoxyribonucleic acid
DNA
DNA Copy Number Variations
DNA Methylation
DNA, Mitochondrial - genetics
DNA-Binding Proteins - genetics
epigenetics
Female
Heterozygote
Humans
Male
Middle Aged
Mitochondrial DNA
mitochondrial DNA methylation
mtDNA copy number
Mutation
Neurodegeneration
RNA-Binding Protein FUS - genetics
Superoxide dismutase
Superoxide Dismutase-1 - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:To investigate mitochondrial DNA (mtDNA) copy number and D-loop region methylation in carriers of , , and mutations. Investigations were performed in blood DNA from 114 individuals, including amyotrophic lateral sclerosis (ALS) patients, presymptomatic carriers and noncarrier family members. Increased mtDNA copy number (p = 0.0001) was observed in ALS patients, and particularly in those with or mutations. 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. Demethylation of the D-loop region could represent a compensatory mechanism for mtDNA upregulation in carriers of ALS-linked mutations.
ISSN:1750-1911
1750-192X
DOI:10.2217/epi-2018-0072