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Updated: Jul 9, 2025
Neuronal Nuclei Isolation from Human Postmortem Brain Tissue
Published on: October 1, 2008
Human brain single nucleus cell type enrichments in neurodegenerative diseases
Chelsea X Alvarado1, Cory A Weller1, Nicholas Johnson1
1National Institute on Aging.
Background:
Single-cell RNA sequencing has opened a window into clarifying the complex underpinnings of disease, particularly in quantifying the relevance of tissue- and cell-type-specific gene expression.
Methods:
To identify the cell types and genes important to therapeutic target development across the neurodegenerative disease spectrum, we leveraged genome-wide association studies, recent single-cell sequencing data, and bulk expression studies in a diverse series of brain region tissues.
Results:
We were able to identify significant immune-related cell types in the brain across three major neurodegenerative diseases: Alzheimer's disease, amyotrophic lateral sclerosis, and Parkinson's disease. Subsequently, putative roles of 30 fine-mapped loci implicating seven genes in multiple neurodegenerative diseases and their pathogenesis were identified.
Conclusions:
We have helped refine the genetic regions and cell types effected across multiple neurodegenerative diseases, helping focus future translational research efforts.
