Work

Mitochondrial DNA Copy Number and D-Loop Region Methylation in Carriers of Amyotrophic Lateral Sclerosis Gene Mutations

Year: 2018

Type: article

Abstract: 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.

Source: Epigenomics

DOI: 10.2217/epi-2018-0072

Authors: Andrea Stoccoro, Lorena Mosca, Vittoria Carnicelli, Ugo Cavallari, Christian Lunetta, Alessandro Marocchi, Lucia Migliore, Fabio Coppedè

Institutions: University of Siena, University of Pisa, Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda

Language: English

Topic: Amyotrophic Lateral Sclerosis Research

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2885475563

FWCI: 3.847

Cites: 57

Cited by: 81

Related to: 10