Male mice that carry a specific mutation in the autism-linked PTEN gene have enlarged brains and show heightened interest in other mice, according to a study published 7 February in Human Molecular Genetics.
Roughly one-quarter of people with neurofibromatosis type 1 — one of a family of rare disorders that show enhanced signaling in a cancer-related pathway — also have autism, according to a study published in December in Pediatrics.
Many people diagnosed with a set of rare disorders called RASopathies also have autism, but those symptoms often go untreated.
A gene’s length may influence its expression, and this has implications for autism, which tends to be linked to particularly long genes, says Mark Zylka.
About one in four people diagnosed with a group of rare disorders have autism, according to a study published 7 October in the Journal of Medical Genetics. The disorders all affect a single cancer-related pathway, driven by a protein called RAS.
An enzyme that may keep RNA tangle-free as it’s translated into protein is missing in some people with schizophrenia and learning difficulties. The enzyme also cooperates with the protein missing in fragile X syndrome to bind RNA, suggesting a role in protein synthesis. That’s the upshot from two studies published in the September Nature Neuroscience.
Researchers have uncovered the mechanism by which a candidate drug for Angelman syndrome activates UBE3A, the gene that is silenced in the syndrome, according to a study published 20 August in the Proceedings of the National Academy of Sciences.
Certain mutations may hijack the normal mechanisms of sperm production, leading to an enrichment of mutant sperm in older fathers, and to the paternal-age effect in autism.
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.
Neurons lacking PTEN, an autism-associated gene also involved in cancer, are hyperconnected to both near and distant brain cells, according to a study published 1 February in The Journal of Neuroscience.