Children with autism have atypical patterns of epigenetic modifications — chemical tags on DNA that influence gene expression, suggests a study published 29 May in PLOS Genetics.
A teenage girl with Rett syndrome has a mutation in WFR45, a gene that is mutated in people who abruptly lose motor and mental skills in adulthood, according to a study published 13 March in the Journal of Human Genetics.
The protein underlying Rett syndrome exists in two different forms that differ in their distribution throughout the brain, reports a study published 3 March in PLoS One.
Having one too many copies of MeCP2, the Rett syndrome gene, may block the growth of neuronal branches by interfering with the production of small pieces of RNA, according to a study published 10 March in Developmental Cell.
Deleting MeCP2 from a subset of neurons that mediate inhibitory signals recapitulates many of the symptoms of Rett syndrome in mice. Conversely, expressing the gene only in that subset, but not in the rest of the brain, protects the mice from some of those same symptoms. The results were published last week in Nature Neuroscience.
In the brains of people with autism, certain genes are suppressed by a chemical tag that increases binding to MeCP2, the protein implicated in Rett syndrome. The findings were published 21 January in Translational Psychiatry.
Researchers have created the first genetic monkey model of autism, they reported 6 March in Cell Stem Cell. The female monkey has a mutated version of the MeCP2 gene that causes Rett syndrome.
Support cells generated from people with Rett syndrome release molecules that alter the shape and function of neurons, according to a study published 27 February in Human Molecular Genetics.
Researchers have established a set of commercially available cell lines that can help gauge the quality of tests for Rett syndrome, they reported in the March issue of the Journal of Molecular Diagnostics.
Deleting the Rett syndrome gene MeCP2 from oligodendrocytes, a brain support cell, leads to a mild form of the disorder in mice, according to a study published 27 November in The Journal of Neuroscience.