Debut drug for Rett syndrome at edge of approval
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.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
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.
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.
FMR1 loss impairs sodium channels, hindering mouse neurons from generating the electrical signals needed to transmit information.
The approach removes methyl tags from the gene and shields it from other silencing factors without changing the gene itself, raising hopes for a new treatment.
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.
Connections between 13 autism-linked proteins and their binding partners in excitatory neurons implicate a new molecular pathway.
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.