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Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders
Jakob Seidlitz1,2, Ajay Nadig3, Siyuan Liu3
1Developmental Neurogenomics Unit, National Institute of Mental Health, Bethesda, MD, USA. jakob.seidlitz@nih.gov.
Nature Communications
|July 5, 2020
Summary
Genetic risks for neurodevelopmental disorders map to specific brain regions. This study links copy number variations (CNVs) to spatial gene expression patterns in the cortex, revealing how genetic vulnerabilities arise in the brain.
Area of Science:
- Neurogenetics
- Neuroimaging
- Developmental Neuroscience
Background:
- Neurodevelopmental disorders possess a genetic basis and manifest as specific alterations in brain anatomy.
- The precise mechanisms translating genetic risks into spatially patterned brain vulnerabilities remain incompletely understood.
Purpose of the Study:
- To investigate how genetic risks, specifically copy number variations (CNVs), correlate with spatial patterns of cortical anatomy changes in neurodevelopmental disorders.
- To identify the cell types and genes involved in mediating the relationship between genetic variations and brain structural alterations.
Main Methods:
- Integrated cortical neuroimaging data from patients with CNV-related neurodevelopmental disorders with gene expression data from healthy subjects.
- Correlated spatial patterns of cortical anatomy changes with the spatial expression of CNV genes across the cortex.
- Transformed bulk-tissue gene expression data into cell-type specific expression maps to link anatomical changes to specific cell classes and their expressed CNV genes.
Main Results:
- Spatial patterns of cortical anatomy alterations in youth with neurodevelopmental disorders significantly correlate with the spatial expression of causative CNV genes in neurotypical adults.
- Specific cell classes were identified as expressing CNV-region genes, linking these cell types to the observed anatomical changes in various disorders.
- Established a framework for mapping genetic risks onto regional brain alterations in neurogenetic disorders.
Conclusions:
- The study reveals fundamental organizing principles governing how genetic risks are spatially mapped onto regional brain changes in neurodevelopmental disorders.
- Findings provide a basis for screening candidate molecular mechanisms using accessible neuroimaging data.
- Highlights the importance of cell-type specific gene expression in understanding the neurobiological underpinnings of genetic brain disorders.
