Increasing or reducing the levels of the UBE3A gene, which is associated with autism and autism-related syndromes, results in altered patterns of synaptic pruning — a process that snips away brain cell connections.
Spectrum: Autism Research News
This month’s Going on Trial newsletter dives into an electroencephalography biomarker that could track the efficacy of treatments for dup15q and Angelman syndromes, among other drug development news.
A careful clinician who prizes evidence, Jeremy Veenstra-VanderWeele is happy to embrace trial failures, as long as he learns from them.
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
UBE3A, a key gene associated with both autism-linked conditions, can explain most — but not all — of the syndromes’ atypical neuronal properties.
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.
People with dup15q syndrome and those with idiopathic autism have similar patterns of altered gene expression in early brain development and later in life.
The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody
Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.
Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.