Cells with excess UBE3A, an autism-linked protein, have atypical firing properties that can be corrected by limiting the protein’s levels, according to new research.
A gene-editing treatment shows long-lasting effects in a mouse model of Angelman syndrome, a genetic condition related to autism.
All five participants in a clinical trial of a gene therapy for Angelman syndrome experienced leg weakness, leading sponsors to pause the study.
A gene therapy for Angelman syndrome stands at the forefront of efforts to treat autism-linked conditions that stem from single genes.
The mutation that causes Angelman syndrome makes neurons hyperexcitable, which may explain the frequent seizures that most people with the syndrome have.
Rats missing UBE3A, the gene mutated in people with Angelman syndrome, squeak frequently but tend not to be responsive to the play and squeaks of other rats.
One form of the protein implicated in Angelman syndrome and autism clusters in the nucleus, and it’s this form that may be critical to brain development.
Mice with extra copies of UBE3A, a gene linked to autism and related conditions, are susceptible to death from seizures.
The timing of treatment is crucial for conditions related to autism — and more so for some conditions than for others.