The U.S. Food and Drug Administration plans to make an approval decision on the first-ever drug for girls and women with Rett syndrome by 12 March.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
The OTUD7A gene, which may account for some traits in people missing a segment of chromosome 15, appears to interact with several known autism-linked genes.
Both human and mouse progenitor cells with the alterations struggle to become neurons and instead express genes that are typically active only in muscle or the heart.
The treatment eases the animals’ sleep troubles, suggesting it has clinically meaningful effects beyond what was thought to be a critical window in early life.
Exposing neurons to valproic acid, a well-known environmental risk factor for autism, disrupts their ability to generate different proteins from the same gene.
The findings put genetic background forward to help explain autism’s heterogeneity.
The gene, linked to a little-known condition called Weiss-Kruszka syndrome, prevents embryonic stem cells from deviating from their neuronal destiny.