A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.
In 2003, John Rubenstein and Michael Merzenich first described the theory, now popular in autism, that the disorder reflects an imbalance between excitation and inhibition in the brain. Takao K. Hensch and Parizad M. Bilimoria review the paper and its impact on the field.
Treating mice that model Rett syndrome with acetyl-L-carnitine delays the onset of symptoms until adulthood, according to a study published 5 December in PLoS One.
Some Chinese individuals with autism have rare mutations that may disrupt the production of melatonin, the hormone that regulates sleep, according to a study published 17 January in PLoS One.
Neurons in mice that model fragile X syndrome show immature, overexcitable firing patterns, particularly during sleep, according to unpublished research presented last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
Two mutations in CAPS2, an autism-linked protein that promotes neuronal signaling, lead to different autism-like behaviors in mice, according to two studies published in the past two months. Both mutations have been seen in individuals with autism.
Thomas Bourgeron discovered the first rare mutation linked to non-syndromic autism, pointing to neuronal connections as prime drug targets.
Mutations in the CDKL5 gene lead to developmental delay starting at birth, seizures that begin before 3 months of age, and subtly atypical facial features, according to a study published 8 August in the European Journal of Human Genetics.
Researchers have homed in on the brain region thought to be responsible for the autism-like symptoms that can accompany Dravet syndrome, a rare epilepsy disorder, according to research published Wednesday in Nature.
Studying tuberous sclerosis provides researchers with a unique opportunity to find a common pathway among the various genetic causes of autism, says neurologist Mustafa Sahin.