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Updated: Jun 24, 2025
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Blood MAPT expression and methylation status in Alzheimer's disease
Hiroaki Mori1, Yuta Yoshino1, Mariko Ueno1
1Department of Neuropsychiatry, Molecules and Function Ehime University Graduate School of Medicine, Shitsukawa Toon Ehime Japan.
Aim:
This study aimed to investigate the expression levels and methylation status of microtubule-associated protein tau (MAPT) in the blood of Alzheimer's disease (AD) patients and age- and sex-matched healthy controls.
Methods:
Fifty AD outpatients and 50 healthy contorls were enrolled. Blood samples were collected for processing of complementary DNA and genomic DNA. MAPT messenger ribonucleic acid (mRNA) expression was analyzed by real-time quantitative polymerase chain reaction. The methylation rates of four cytosine-phosphate-guanine (CpG) sites in the upstream region of MAPT exon1 were evaluated by the pyrosequencing method.
Results:
No significant differences in MAPT mRNA expression levels were found between AD and control subjects (AD 0.97 ± 0.49 vs. control 1.0 ± 0.64, p = 0.62). MAPT mRNA expression levels were not correlated with any other clinical characteristics or results of psychological tests. MAPT mRNA expression levels were significantly higher in AD subjects treated with acetylcholinesterase inhibitors (AchEIs) (n = 25) than in subjects not treated with AChEIs (n = 25) (unmedicated 0.83 ± 0.33 vs. medicated 1.12 ± 0.59, p = 0.049). The AD subjects did not differ from the control subjects in methylation rates at selected CpG sites. MAPT methylation status were not correlated with clinical characteristics, the results of psychological tests, or MAPT mRNA expression.
Conclusion:
MAPT mRNA expression levels and methylation status in blood do not appear useful as biomarkers for AD or the examined CpG sites were not genetically significant for MAPT gene expression or AD pathology. However, AChEIs may alter MAPT mRNA expression. Further studies are needed to explore blood biomarkers that can discriminate AD patients from controls.
Insights
Microtubule-associated protein tau (MAPT) mRNA expression and methylation in blood are not reliable Alzheimer's disease biomarkers. Acetylcholinesterase inhibitors may influence MAPT mRNA levels, warranting further investigation.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline.
- Identifying reliable blood-based biomarkers for early AD diagnosis is crucial.
Purpose of the Study:
- To investigate the expression levels and methylation status of microtubule-associated protein tau (MAPT) in the blood of AD patients.
- To assess the potential of MAPT as a blood biomarker for Alzheimer's disease.
Main Methods:
- Real-time quantitative polymerase chain reaction (qPCR) was used to analyze MAPT mRNA expression in 50 AD patients and 50 controls.
- Pyrosequencing was employed to evaluate the methylation rates of four CpG sites in the MAPT upstream region.
Main Results:
- No significant differences in MAPT mRNA expression were observed between AD patients and healthy controls.
- MAPT mRNA expression levels were significantly higher in AD patients treated with acetylcholinesterase inhibitors (AChEIs).
- No differences in MAPT methylation status were found between groups, and it did not correlate with clinical characteristics or MAPT mRNA expression.
Conclusions:
- MAPT mRNA expression and methylation in blood are not suitable biomarkers for Alzheimer's disease.
- AChEIs may influence MAPT mRNA expression, suggesting a potential confounding factor in biomarker studies.
- Further research is needed to identify effective blood biomarkers for discriminating AD patients.
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