Send to

Choose Destination
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

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


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.


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

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for IOS Press
Loading ...
Support Center