Scientists from the Australian Institute of Molecular Biology (an independent biomedical research organization) have developed a new system for diagnosing autism based on the use of artificially created models of the human brain and the study of genetic mutations with their help. results published In the journal Nature.
The CHOOSE system involves the use of human brain organoids (three-dimensional tissue artificially created from stem cells that can mimic its architecture and functionality). The technology makes it possible to identify vulnerable cell types and gene regulatory networks underlying autism spectrum disorders.
Scientists have revealed that many of the genes associated with a high risk of developing autism spectrum disorder (ASD) are critical for the development of the cerebral cortex. Although clinical studies have shown a causal link between multiple genetic mutations and autism, researchers still do not understand how these mutations lead to defects in brain development. The use of animal testing is limited due to the unique development of the human brain.
To fill this gap, scientists have developed a technique to screen for all of the key transcription regulatory genes associated with autism. A regulatory gene is a gene that encodes a regulatory protein that activates or represses the transcription of other genes. This development allows the creation of brain models using various genes of interest, increasing the effectiveness of genetic screening.
In the CHOOSE (CRISPR-human organoids-scRNA-seq) system, each organoid cell carries at most one mutation in a specific gene associated with ASD. Researchers can monitor the impact of each mutation at the individual cell level and map its developmental trajectory. The effect of each mutation will be visualized in a single experiment, significantly shortening analysis time.
Scientists noted that thanks to the CHOOSE system, it was understood that mutations in 36 genes associated with ASD share some common molecular mechanisms. But some cell types are more vulnerable to mutations that lead to autism. These include neuronal precursors.
existed before discovered Association between common intestinal infection and Alzheimer’s disease.