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High Content Screening in Neurodegenerative Diseases
Published on: January 6, 2012
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CXCR4 involvement in neurodegenerative diseases
Luke W Bonham1, Celeste M Karch2, Chun C Fan3
1Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA, USA.
Translational Psychiatry
|April 12, 2018
Summary
This study reveals shared genetic risks for neurodegenerative diseases like Alzheimer's and Parkinson's, identifying CXCR4 as a potential target. Immune system dysfunction may play a key role in disease progression.
Area of Science:
- Genetics
- Neuroscience
- Immunology
Background:
- Neurodegenerative diseases share common underlying pathobiology.
- Prior studies identified susceptibility loci for dementias, but few explored shared genetic risk across multiple neurodegenerative diseases.
Purpose of the Study:
- To systematically evaluate shared genetic risk and common pathways across progressive supranuclear palsy (PSP), frontotemporal dementia (FTD), Parkinson's disease (PD), and Alzheimer's disease (AD).
- To investigate the role of the chemokine receptor CXCR4 and associated microglial genes in neurodegeneration.
Main Methods:
- Utilized genome-wide association data from 82,337 cases and controls.
- Employed bioinformatics to analyze gene interactions and evaluated gene expression from post-mortem brain tissue.
- Examined CXCR4 and microglial gene expression in a mouse model of tauopathy.
Main Results:
- Identified a variant near CXCR4 jointly associated with increased risk for PSP and PD, beyond the MAPT H1 haplotype.
- Found strong physical interactions between CXCR4 and four microglia-related genes (CXCL12, TLR2, RALB, CCR5).
- Observed dysregulated expression of CXCR4 and related microglial genes in neurodegenerative diseases and a tauopathy mouse model.
Conclusions:
- Abnormal signaling within a network of microglial genes, involving CXCR4, may contribute to neurodegeneration.
- These findings suggest potential implications for clinical trials targeting immune dysfunction in neurodegenerative diseases.
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