Brain|For the first time, the study connected genes known to be risk factors with cell changes observed in the brain.
New In the journal Science the published study reveals the biological mechanisms behind the autism spectrum disorder with unprecedented precision.
Led by the University of California research for the first time links the genetic risk factors of autism to the functioning of brain cells.
The study analyzed the nuclei of individual cells and identified several cell types that are affected by autism, as well as gene and protein networks that explain their changes.
Research was made as part of the wider Psych Encode project, which aims to understand how gene regulation affects brain function and disorders.
In the project that started in 2015, apart from autism, e.g. schizophrenia and bipolar disorder are examined.
Heredity plays a central role in these, but how variation in heredity leads to disorders remains to be elucidated.
“We want to understand this mechanism. What does a gene variant do in the brain?”, project researcher, professor of biomedical informatics at Yale University Mark Gerstein says in the university’s bulletin.
Autism the study used a technique that made it possible to separately examine the genetic information contained in the nucleus of individual cells.
In the study, more than 800,000 nuclei were isolated from the brain tissues of dead people. The brains belonged to people between the ages of 2 and 60.
The brains of 63 people were used in the study. 33 of them had been diagnosed with autism. The control group consisted of the brains of 30 neurotypical persons whose functioning had not been detected.
Researchers identified cortical cell types in autistic brains that differed slightly from the samples of the control group.
In addition, the researchers identified considerable changes in gene expression in the cells of persons diagnosed with autism. The expression of genes determines human characteristics and the functioning of the body.
The researchers also located a network of proteins responsible for aberrant gene expression. Known genes that increase the risk of autism spectrum disorders were connected to these networks.
According to the researchers, identifying the mechanisms can help develop treatment for those diagnosed with autism.
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