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Updated: Feb 8, 2026

Optimized Analysis of DNA Methylation and Gene Expression from Small, Anatomically-defined Areas of the Brain
Published on: July 12, 2012
Gene expression and DNA methylation are extensively coordinated with MRI-based brain microstructural characteristics.
Chris Gaiteri1, Robert Dawe2,3, Sara Mostafavi4
1Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA. gaiteri@gmail.com.
This study links gene expression and DNA methylation to brain structure in aging individuals. These molecular factors are associated with Alzheimer's disease, offering insights into its biological basis.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Cognitive function depends on molecular and cellular brain structures.
- The relationship between these components and disease contribution is poorly understood.
Purpose of the Study:
- To investigate the systematic relationships between molecular factors (gene expression, DNA methylation) and brain microstructure.
- To explore the joint contribution of molecular and structural brain changes to disease, specifically Alzheimer's disease.
Main Methods:
- Utilized postmortem neuroimaging (MRI) and molecular data (gene expression, DNA methylation).
- Analyzed data from 222 deeply-phenotyped individuals in a longitudinal aging cohort.
- Correlated gene expression and DNA methylation with brain microstructure in extensive brain regions.
Main Results:
- Hundreds of genes and thousands of DNA methylation loci showed relationships with brain microstructure.
- Genes linked to brain microstructure are involved in cell motility, transcriptional regulation, and nuclear processes.
- These molecular factors were selectively associated with Alzheimer's disease phenotypes.
Conclusions:
- Established links between molecular profiles and brain microstructure in aging.
- Identified specific molecular pathways associated with Alzheimer's disease.
- Proposed a methodology applicable to other diseases for identifying molecular and structural underpinnings and for precision medicine.
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