Mice that are unable to produce a carbohydrate molecule that regulates cell growth show behaviors that resemble the core deficits of autism, according to a study published 27 March in the Proceedings of the National Academy of Sciences.
Researchers have identified four new mutations in the autism-linked gene neurexin-1 in individuals who have autism and severe intellectual disability, they reported 3 April in Neurobiology of Disease.
Individuals with autism are more likely than controls to have small, rare duplications or deletions of stretches of DNA in genes that play a role in dampening signals in the brain, according to a study published 2 April in Molecular Autism.
Mutations in more than 100 autism-associated genes lead to shared neurobiological deficits in mice, including alterations in the shape of their brains and changes to the electrical properties of neurons, according to a study published 20 February in Molecular Autism.
Two mutations in an autism-associated gene, neurexin-1, may have combined to cause autism in one man, whereas family members with only one of the two mutations have other neurological disorders, according to a study published 15 February in the American Journal of Medical Genetics Part B.
DISC1, an autism-associated protein, can form large aggregates that deplete the amount of functional DISC1 in cells, according to a study published 14 February in Human Molecular Genetics.
The characteristics, interactions and roles of autism-associated genes in the fruit flies’ brain will help guide how we think about the same genes in humans, says Ralph Greenspan.
Researchers have charted patterns of DNA methylation — a chemical alteration to DNA that modifies gene expression — in the planning center of the brain from before birth to old age. The results were published 10 February in The American Journal of Human Genetics.
Simulating neuronal development in culture with cells derived from human brain tissue offers a new way to study the function of autism-linked genes, according to research published in the February issue of Molecular Psychiatry.