Affiliations: [a] Department of Translational Research and New Technologies in Medicine and Surgery, Section of Medical Genetics, University of Pisa, Pisa, Italy
| [b] Department of Medical Biotechnologies, Doctoral School in Genetics, Oncology, and Clinical Medicine, University of Siena, Siena, Italy
| [c] Department of Clinical and Experimental Medicine, University of Pisa, Neurological Clinic, Pisa, Italy
Correspondence:
[*]
Correspondence to: Prof. Fabio Coppedè, PhD, Department of Translational Research and New Technologies in Medicine and Surgery, Medical Genetics Lab, University of Pisa, Medical School, Via Roma 55, 56126 Pisa, Italy. Tel.: +39 50 2218544; E-mail: fabio.coppede@med.unipi.it.
Note: [1] Joint last authors.
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.
