AANS Neurosurgeon | Volume 29, Number 2, 2020

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Genetic Variation in Individual Brain Cell Types May Predict Disease Risk

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One might think that the primary cause of most genetically linked diseases comes from mutations in coding DNA — alterations in coding regions of the genome that can lead directly to changes in the expression of particular proteins important for a healthy body. But the majority of human DNA is non-coding DNA — regions of DNA that do not directly translate into functional proteins. These non-coding DNA regions contain functional elements, called enhancers, which can change the likelihood of a particular protein to be made.

Researchers are now finding particular genetic variations in some of these non-coding regulatory regions, called enhancers, determine whether or not proteins are expressed in specific cell types in the brain and may play a role in a person’s risk of developing psychiatric or neurological conditions.

In a new study, a team of researchers at University of California San Diego School of Medicine and the Salk Institute for Biological Studies used healthy tissue isolated from six patients to isolate four different kinds of brain cells — neurons, microglia, oligodendrocytes, and astrocytes — then looked at genetic variation associated with disease in the non-coding enhancer regions of each cell type, searching for variations that might be linked to disease risk.

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