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J Alzheimers Dis. 2017;59(2):559-564. doi: 10.3233/JAD-170139.

Decreased Methylation of the Mitochondrial D-Loop Region in Late-Onset Alzheimer's Disease.

Author information

1
Department of Translational Research and New Technologies in Medicine and Surgery, Section of Medical Genetics, University of Pisa, Pisa, Italy.
2
Department of Medical Biotechnologies, Doctoral School in Genetics, Oncology, and Clinical Medicine, University of Siena, Siena, Italy.
3
Department of Clinical and Experimental Medicine, University of Pisa, Neurological Clinic, Pisa, Italy.

Abstract

Mitochondrial impairment is a feature of neurodegeneration and many investigators have suggested that epigenetic modifications of the mitochondrial DNA (mtDNA) might be involved in late-onset Alzheimer's disease (LOAD), but evidence in humans is limited. We assessed the methylation levels of the mtDNA D-loop region in blood DNA from 133 LOAD patients and 130 controls, observing a significant 25% reduction of DNA methylation levels in the first group (2.3 versus 3.1%). Overall, the present data indicate that there is a decreased methylation of the D-loop region in LOAD peripheral blood DNA, suggesting that mtDNA epimutations deserve further investigations in AD pathogenesis.

KEYWORDS:

Alzheimer’s disease; D-loop region; DNA methylation; epigenetics; mitochondrial DNA; mtDNA

PMID:
28655136
DOI:
10.3233/JAD-170139
[Indexed for MEDLINE]

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