MeCP2, the gene that is mutated in Rett syndrome, may regulate a different set of genes in brain cells called astrocytes than in neurons, according to a study published 25 January in Molecular Autism.
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.
Most boys who have an extra copy of the MeCP2 gene have a diagnosis of autism, but their symptoms differ from those of classic autism, according to a study published 20 November in Autism Research.
Children with multiple copies of MeCP2, the gene linked to Rett syndrome, have an immune deficiency in addition to intellectual disabilities, impaired motor skills and seizures. The findings, published 5 December in Science Translational Medicine, may explain why these individuals suffer from frequent bouts of severe respiratory infections and pneumonia.
The autism-linked protein MET is expressed at lower levels in the brains of men with autism than in control brains, according to unpublished research presented Thursday at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California. Women with autism do not differ from healthy controls, however.
Researchers have made neurons from the skin cells of mice that model Rett syndrome, according to a study published in the December issue Molecular Psychiatry.
Researchers have identified several harmful autism-linked mutations in a family of proteins that regulate the expression of various genes, they reported 10 October in Autism Research.
Most cases of Rett syndrome in China are the result of mutations on the paternal copy of MeCP2, according to a study published 27 August in the European Journal of Medical Genetics.
Female mice of two different genetic backgrounds consistently model the behavioral features of Rett syndrome, according to a study published 9 October in Human Molecular Genetics. Although Rett syndrome presents almost entirely in girls, researchers have thus far relied mostly on male mice to model the disorder.
The brains of individuals with autism express low levels of genes involved in metabolism and protein assembly, according to a postmortem study published 12 September in PLoS One.