In a recent study that focused on cell-type shifts in the human brain that could potentially lead to Alzheimer’s disease, schizophrenia and autism spectrum disorder, researchers found specific genes that correlated to the functionality of cells in the human brain and the impacts they could have. To do this, the study sampled from 1270 deceased individuals that suffered from ASD, schizophrenia and Alzheimer's, respectively. To isolate what genetic factors influence cell type shifts in brain tissue, RNA sequencing and methylomic data were compiled from each individual. It was determined that the loci CTP_PC5 on Chromosome 17 contains the gene P2RX5, which codes for the functionality regulation of endothelial cells in the brain. There is a wealth of evidence that indicates that loss of endothelial cells contributes to Alzheimer’s disease, which makes the discoveries made through this study incredibly important.
Upon reviewing individuals with ASD, the researchers did not find a genetic correlation between microglia amount and ASD polygenic score. However, PGS did turn out to help predict the occurrence of schizophrenia, which is marked by a decreased amount of oligodendrocytes.
Clearly, this research is paramount in understanding how genetics influence diseases like Alzheimer's, schizophrenia, and ASD.
Sources:
https://www.science.org/doi/10.1126/sciadv.adn7655
https://pubmed.ncbi.nlm.nih.gov/29777097/
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