Two independent groups have created mice that have deletions or duplications in a large section of chromosome 16. Each team has produced an animal with a different set of features, some of which — such as large head size and repetitive behaviors — are reminiscent of people with autism.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Individuals with a deletion in the 16p11.2 chromosomal region — which has been linked to autism in several studies — show features of autism spectrum disorders including language delay, according to a study published in October.
A controversial new approach that quiets the activity of certain neurons in the brain alleviates breathing difficulties in a mouse model of Rett syndrome, according to a study published 4 October in the Proceedings of the National Academy of Sciences.
Treating adult mice with lithium restores the ability of neurons in fragile X mice to fine-tune their signaling, according to a study published online in November in Brain Research.
Cells drawn from a small sample of children with autism show defects in the functioning of their mitochondria — structures that produce energy to power cellular functions — according to a study published this week in the Journal of the American Medical Association.
Inhibiting the ERK1/2 pathway — which regulates the synthesis of other proteins — can rescue some of the effects of fragile X syndrome, according to a study published 17 November in the Journal of Neuroscience. The ERK pathway could provide a novel target for fragile X therapies.
Researchers have developed a technique to detect interactions in live neurons between neuroligins and neurexins — two proteins known to bind at the junction between neurons, according to a study published 29 October in Cell.
Hazel Sive is a classically-trained embryologist and developmental biologist, and an expert in zebrafish genetics. She is using the small, transparent fish embryos for research on autism — an odd choice, as they obviously lack the complex behavioral repertoire seen in the disorder.