A modified version of the CRISPR gene-editing tool can increase the expression of SCN2A and CHD8, showing a lot of potential to assist with autism therapies!
According to a new preprint, treating brain organoids and neurons with a modified version of the gene-editing tool CRISPR rescues the effects of pathogenic variants in two high-confidence genes linked to autism. This new approach boosts the expression of the genes SCN2A and CHD8 by specifically targeting the structures which regulate them.
Variants in the SCN2A gene are responsible for intellectual disability, seizures, and autism, while CHD8 is involved in the remodeling of Chromatin, the group of DNA and proteins which makes up chromosomes. People with autism typically have faulty copies of CHD8.
This latest work would suggest that the impact of autism-related variants could be reversed by utilizing gene expression rather than altering genes directly. However, experts agree that more research is required before the technique can be utilized effectively.
The First Step In the Process
“This is another way in which we can regulate genes that are extremely important in [autism], so that’s a major finding,” said Kevin Bender, the associate professor of neurology at the University of California, San Francisco, who was not involved in the study. “But it’s really the first step in understanding whether this approach is broadly applicable.”
Previously, Bender and his team have utilized the same version of CRISPR, which, instead of editing genes, activates them to boost the expression of the SCN2A gene in mice, which had a harmful variant in one copy of the gene. This treatment corrected the problems that were present in the mice’s neurons.
The study confirmed many of the previous findings by increasing the expression of SCN2A in mutant neurons and brain organoids. However, it also confirmed for the first time that activating gene regulatory elements with CRISPR could counteract the effects that are associated with the detrimental variants of CHD8.
