Spontaneous harmful mutations are more frequent in individuals with autism and schizophrenia, according to two studies published in September.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
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.
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.
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.
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.
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.
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.
The protein missing in fragile X syndrome is necessary for the proper development of neural stem cells — self-renewing cells that can differentiate into more specialized types, including neurons — according to a paper published in the August issue of Human Molecular Genetics.
For nearly 20 years, Ralph Adolphs has been trying to figure out how the human amygdala works. An avid outdoorsman, Adolphs has run a dozen 50- and 100-mile races, and his colleagues say he approaches science with the same stamina and intensity. He has already published more than 100 scientific papers, several of them revealing intriguing ties between the amygdala and autism.