Individuals carrying an extra copy of the genetic region that’s missing in Williams syndrome — which causes mental retardation and a hyper-friendly personality — have language impairments and other autism-like social difficulties, according to a wave of new research on this duplication syndrome.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
The mouse brain has more than 1,300 regions for which the copy from one parent is expressed more often than the one from the other parent, according to two studies published today in Science. These so-called imprinted genes have been proposed to cause some cases of autism, but the researchers say their findings do not support that theory.
Children with fragile X syndrome show abnormal growth in several brain structures during the first few years of life, according to the first study to track how the disease unfolds in the brain during early development.
Several independent groups have found previously unknown risk genes for autism, schizophrenia and mental retardation. The candidate genes have one thing in common: they encode proteins that are needed for the healthy function of synapses, the junctions between neurons.
Mice engineered to carry a well-known risk factor for schizophrenia show disruptions in the connections between two brain regions that coordinate memory and learning. And these disruptions directly cause problems with working memory — the ability to actively hold information and to recall that information to make a decision, according to a study published in Nature.
Microglia, brain cells that provide immune protection to neurons, may influence the onset and course of Rett syndrome, according to a study published in the Journal of Neuroscience.
People with autism harbor more copy number variants (CNVs) — deletions or duplications of large chunks of DNA — compared with controls, but only in the protein-coding regions of the genome, researchers reported Wednesday in Nature. The study also pinpointed more than 100 new risk genes for autism.