Copy number variations, or CNVs — duplications or deletions of DNA segments — can influence the expression of unrelated genes on the same chromosome, according to a study published in November in PLOS Biology.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Scientists have created mice that carry mutations in SHANK3, one of the strongest candidate genes for autism. The animals have behavioral and neurobiological features reminiscent of autism, researchers reported 17 December in Molecular Autism.
Mice lacking one copy of a gene associated with Williams syndrome share the hyper-sociability of people with the disorder, according to a paper published online 3 December in Autism Research.
The goal of studying siblings of children with autism is to identify an early diagnostic marker for the disorder. What researchers are finding instead are distinct traits shared by family members who remain healthy.
Most studies define high-functioning children as those with an IQ above 70 or 80, but this is problematic for a number of reasons, say some scientists. The assumption underlying the use of high IQ as a synonym for high functioning is suspect because social and communicative abilities may have a far greater impact on an individual’s daily interactions.
Over the next five years, dozens of researchers funded by the $40 million ‘NIH Human Connectome Project’ will map the circuits of the human brain, tracing neural pathways and learning how different regions work together in synchrony.
Spontaneous mutations that change a single DNA base account for a large proportion of cases of unexplained mental retardation, according to a study published in the December Nature Genetics.
The pattern of interactions among different genes in yeast cells changes in response to disease-like conditions, in this case a DNA-damaging agent, according to a study published 3 December in Science. Mapping epistasis — how various cellular factors work together — is key to understanding complex disorders, such as autism.
A gene involved in epigenetics — regulation of gene expression by modifying DNA, but without altering the sequence — is associated with autism in families that have only one child with the disorder, according to a study published in November.