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Genes

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

October 2010
News

Multi-gene deletion creates model for Angelman syndrome

by  /  7 October 2010

A new mouse model of Angelman syndrome that knocks out a large stretch of a key chromosome is clarifying some of the molecular mechanisms underlying the more severe forms of the disorder.

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News

Molecular mechanisms: Autism mutation causes neuroligin to misfold

by  /  6 October 2010

A point mutation in the autism-linked protein neuroligin-3 (NLGN3), seen in individuals with autism, causes the protein to misfold and localize to the wrong site in the cell, according to a study published in September in the Journal of Biological Chemistry.

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News

Estrogen reverses autism-like features in mice

by  /  4 October 2010

Two new studies provide clues that may explain sex differences in autism prevalence. Italian researchers have found that injecting estrogen into the brains of young male mice reverses some of the structural and behavioral changes associated with low levels of reelin — a brain protein that has been previously implicated in autism — and the effects endure into adulthood.

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September 2010
News

Genetics: De novo mutation rate higher in autism

by  /  30 September 2010

Spontaneous harmful mutations are more frequent in individuals with autism and schizophrenia, according to two studies published in September.

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News

Molecular mechanisms: Autism brains show ‘angry’ microglia

by  /  27 September 2010

A study of postmortem tissue shows that microglia, cells that provide immune protection to the brain, are altered in the brains of individuals with autism.

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News

Genetics: Common mutation linked to risk of mental disorders

by  /  27 September 2010

A common variation within a region on chromosome 16 puts a large proportion of the general population at risk for intellectual disability, according to a study published in August in Nature Genetics.

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News

Genetics: Postmortem study links new gene to autism

by  /  27 September 2010

A study of postmortem brain tissue shows that RPP25, a gene on the autism-linked 15q22-26 chromosomal region, is expressed differently in the brains of people with the disorder. This is the first time this gene has been implicated in autism.

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News

Molecular mechanisms: Fragile X mutation worsens memory loss

by  /  27 September 2010

Genes responsible for Alzheimer’s disease and fragile X syndrome — a form of mental retardation linked to autism — may operate through the same pathway, according to a study published in The Journal of Neuroscience.

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News

Studies tie fragile X syndrome to famous cancer pathway

by  /  23 September 2010

A drug that interferes with a biochemical pathway important in cancer can reverse some brain defects in mouse models of fragile X syndrome, according to a study published 11 August in the Journal of Neuroscience.

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Opinion

The power of talk

by  /  21 September 2010

In order to understand the interaction between genes and environment in autism, researchers in different disciplines will have to move back and forth between those two realms, stretching out of their intellectual comfort zones. But if the mood at an interdisciplinary workshop two weeks ago is any indication, that challenge is also a source of excitement.

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