Molecular mechanisms: Reward affects motor function in Rett
The motor problems seen in Rett syndrome may be the result of deficits in a reward pathway in the striatum, according to a study published 12 November in Brain Structure and Function.
The motor problems seen in Rett syndrome may be the result of deficits in a reward pathway in the striatum, according to a study published 12 November in Brain Structure and Function.
By creating an atlas of 39 different areas in the mouse cerebellum, researchers have highlighted differences in this region in three mouse models of autism, they reported 22 October in Autism Research.
MeCP2, the protein mutated in Rett syndrome, is normally responsible for boosting the expression of a large number of genes. This finding, published 3 October in Cell Stem Cell, may explain why growth factors that promote protein production are able to reverse features of the syndrome in mice.
Insulin-like growth factor 2, a hormone involved in fetal growth, reverses abnormal social behaviors, repetitive behaviors and memory impairments in BTBR mice, a popular model of autism. The unpublished results were presented Monday at the 2013 Society for Neuroscience annual meeting in San Diego.
A virus that ferries healthy copies of the Rett syndrome gene across the blood-brain barrier can reverse symptoms in female mice that model the disorder, according to a report published 21 August in the Journal of Neuroscience. The approach is the closest yet to simulating a workable treatment for the autism-related disorder.
Mutating MeCP2, the gene linked to Rett syndrome, in zebrafish allows researchers to investigate the disorder early in development, according to a study published 16 July in Frontiers in Neural Circuits.
Harmful mutations in MeCP2 don’t always lead to Rett syndrome, and the syndrome can result from mutations in other genes, according to a study published 26 June in the Journal of Molecular Diagnostics.
Thanks to a suite of new tools based on synthetic biology, it’s now possible to quickly and cheaply insert autism-linked mutations into living cells in the lab.
Methylation — modifications to DNA that regulate gene expression — may explain why identical twins with the same Rett syndrome mutation have different symptoms, according to a study published 21 June in PLoS One.
The genes involved in Rett and Angelman syndromes may collaborate to regulate the expression of other proteins, according to a study published 19 July in Biochemical and Biophysical Research Communications. This may explain the overlap in symptoms between the two disorders, the researchers say.