The TSC2 gene, mutations in which cause tuberous sclerosis complex, is needed for budding nerve fibers to find their proper targets in the brain, according to a mouse study published in Nature Neuroscience.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Genetic variations that tweak the brain’s release of oxytocin — a hormone involved in social bonding and establishing trust — may increase the risk of developing autism or traits of the disorder, according to three new studies published in the past few months.
Guoping Feng’s perseverance has proven a boon to the hundreds of neuroscientists who rely on his most celebrated scientific achievement: two dozen mouse strains engineered to have brightly colored brain cells. By creating the first robust mouse model of obsessive-compulsive disorder, Feng has also found a way to study repetitive behaviors, one of the three core characteristics of autism.
Scientists have for the first time found direct evidence that defects in the GABA receptor sometimes give rise to autism, according to research published 24 November in Molecular Psychiatry.
Using new genetic screening technology, a few research groups are finding that a surprisingly large number of children with autism — at least five percent — have an underlying problem with their mitochondria, the energy factories of the cell.
Studies on younger siblings of children with autism are finding that during tests of sensory or perceptual processing, these baby sibs show abnormally fast brain responses, rather than a delay.
Autism may be the result of faulty wiring that occurs during early brain development, according to two independent studies that looked at the origins of circuit disruption.
Deletions or duplications of chromosomal segment 16p11.2 — previously reported as a key autism region — are seen in people with developmental delays and speech and behavioral problems, but not necessarily autism. That’s the finding from two large studies published last week of people carrying these rare genetic variations.