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Spectrum: Autism Research News

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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

December 2010

Scientists create mouse models of chromosome 16 defects

by  /  13 December 2010

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.

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Clinical research: Chromosome deletion linked to autism features

by  /  13 December 2010

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.

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Calming neurons may ease apnea in Rett syndrome

by  /  9 December 2010

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.

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Molecular mechanisms: Lithium treats adult fragile X symptoms

by  /  8 December 2010

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.

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Stimulating research

by  /  6 December 2010

The National Database for Autism Research (NDAR), created by the National Institutes of Health to ease data sharing among autism researchers, has released the first batch of data on more than 10,000 participants enrolled in federally funded autism research studies.

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Defects in mitochondria linked to autism

by  /  3 December 2010

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.

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Molecular mechanisms: New pathway for fragile X treatment

by  /  2 December 2010

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.

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Risk gene for autism rewires the brain

by  /  1 December 2010

A variant of the autism risk gene CNTNAP2 may alter the brain to emphasize connections between nearby regions and diminish those between more distant ones, according to a study published 3 November in Science Translational Medicine.

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November 2010

Molecular mechanisms: Researchers light up interactions between neurons

by  /  30 November 2010

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.

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Hazel Sive: A fish tale

by  /  29 November 2010

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.

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