An Atlas of Microglia in Neurodegenerative Disease
Post by Laura Maile
The takeaway
Microglia, the immune cells of the brain, play important roles in both brain homeostasis and disease. Several human datasets have now been compiled to create a human microglia atlas that characterizes microglia across multiple neurodegenerative diseases.
What's the science?
Microglia, the brain's resident immune cells, help maintain homeostasis and normal function of the CNS environment, including modulating synaptic connections between neurons. In cases of injury or infection, microglia convert to an activated state, where they take on an amoeboid shape and work to return the brain to homeostasis. In neurological disease, however, they can become abnormally activated and contribute to disease. Historically, activated microglia were divided into two categories: M1, a pro-inflammatory type, and M2, a neuroprotective type. Since this initial categorization, gene expression analysis led to a distinct class designated “disease-associated microglia” (DAM). DAM gene expression patterns, or signatures, have been commonly used to identify activated microglia in tissue responding to injury or other pathologies. Though the evolution of this field has proposed that these categories are too simplified to describe the range of microglia observed in disease, a comprehensive classification of microglia across different disease states has not yet been achieved. This week in Nature Communications, Martins-Ferreira and colleagues used 19 human datasets to create an atlas describing nine subpopulations of microglia in neurodegenerative disease.
How did they do it?
The authors integrated data from 19 single-cell RNA sequencing datasets from human brain tissue from patients with a variety of neurodegenerative disorders, including autism spectrum disorder (ASD), Alzheimer’s Disease, multiple sclerosis, epilepsy, Lewy Body Disease, and severe COVID-19. The integrated Human Microglia Atlas (HuMicA) accounts for 90,716 cells from 241 patient samples. They completed a cluster analysis to identify natural groupings of the sorted cells based on their gene expression and nine subpopulations were identified. The authors calculated the upregulated gene markers for each subpopulation and compared these markers with other available gene datasets that describe patterns of transcriptomic signatures in microglia populations. They identified specific patterns in each subpopulation and compared the prevalence of each subpopulation across each pathology to understand how microglial changes are associated with specific neurodegenerative diseases. Finally, the authors used the HuMicA to analyze differentially expressed genes (DEGs) in disease and healthy populations, allowing them to detect specific patterns of gene expression associated with individual pathologies.
What did they find?
They identified three homeostatic clusters, representing relatively healthy, inactivated microglia. They noted these clusters shared patterns of upregulated genes that normally identify homeostatic microglia, though each cluster also had its own signature of upregulated genes.
The DAM signature was broken down into four subpopulations, each with its own transcriptional patterns, including pro-inflammatory pathways, phagocytosis, lipid metabolism, or leukocyte activation In addition, a group of monocyte-derived microglia-like cells previously described in mice are shown here to be prevalent in human brain as well, showed increases in gene expression cytokine production. Though all the clusters were observed across all analyzed human samples and disease profiles, they discovered patterns of expansion or depletion of specific clusters associated with individual neurodegenerative disorders. For example, they found expansion of a subpopulation expressing genes involved in lipid metabolism in AD and MS. After analyzing DEGs, the authors found some general pathology-related patterns of gene expression that were shared across diseases and others that were more specific to an individual disease or group of diseases.
What's the impact?
This study was the first to create a comprehensive human microglia atlas, which identified subpopulations of microglia associated with neurodegenerative disorders. With this atlas, the authors demonstrated that microglia are complex and exist in many different states in the diseased brain. This data will advance our understanding of microglia in neurodegenerative diseases, and provide a useful tool in the study of microglia and disease.