Related Experiment Video
Updated: Jun 4, 2026

The Detection of 5-Hydroxymethylcytosine in Neural Stem Cells and Brains of Mice
Published on: September 19, 2019
DNA methylation in repetitive elements and Alzheimer disease
V Bollati1, D Galimberti, L Pergoli
1Center of Molecular and Genetic Epidemiology, Department of Environmental and Occupational Health, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. valentina.bollati@unimi.it
LINE-1 DNA methylation in blood is elevated in Alzheimer's disease (AD) patients and correlates with cognitive function. This epigenetic marker may aid in understanding AD progression and risk stratification.
Area of Science:
- Epigenetics
- Neuroscience
- Molecular Biology
Background:
- Epigenetics, particularly DNA methylation, is implicated in Alzheimer's disease (AD) pathogenesis.
- Repetitive elements like LINE-1 contribute significantly to global DNA methylation patterns.
- The methylation status of repetitive elements in the blood of AD patients remains under-investigated.
Purpose of the Study:
- To investigate the methylation status of repetitive elements (Alu, LINE-1, SAT-α) in the blood of AD patients.
- To explore the association between repetitive element methylation and AD.
- To assess the potential of these epigenetic markers for AD risk stratification.
Main Methods:
- Quantitative bisulfite-PCR pyrosequencing was employed.
- Methylation levels of Alu, LINE-1, and SAT-α sequences were evaluated.
- Analysis included 43 AD patients and 38 healthy donors, with adjustments for age and gender.
Main Results:
- LINE-1 methylation was significantly increased in AD patients compared to healthy volunteers (83.6% vs. 83.1% 5mC, p=0.05).
- Higher LINE-1 methylation levels were observed in AD patients with better cognitive performance (MMSE>22) compared to those with worse performance (MMSE≤22, p=0.05).
- No significant difference was found for Alu and SAT-α methylation levels between groups.
Conclusions:
- LINE-1 methylation in blood may serve as a potential biomarker for Alzheimer's disease.
- Increased LINE-1 methylation is associated with AD and cognitive status.
- Further research is needed to understand the dynamic role of DNA methylation in AD progression.
More Related Videos
Related Concept Videos
Epigenetic Regulation
Epigenetic Regulation
X-chromosome...
Alzheimer Disease l: Introduction
Alzheimer Disease ll: Pathophysiology
Alzheimer's Disease: Overview
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
Duplication of Chromatin Structure
The basic unit of the chromatin is the nucleosome, consisting of DNA wrapped around octameric histone proteins and short stretches of linker DNA separating individual nucleosomes. The histone proteins within the nucleosome have their...

