Emerging evidence indicates that microglia, the brain’s immune cells, are altered in some individuals with autism, raising questions about their role in brain development, says Beth Stevens.
Mutations in MeCP2, the Rett syndrome gene, prevent changes to DNA that dampen gene expression, according to two studies published 16 June in Nature and Nature Neuroscience.
A boost in the levels of MeCP2, the gene implicated in Rett syndrome, makes mice more susceptible to seizures and subtly alters their neurons, according to a study published in the July issue of the American Journal of Pathology.
Studying regression in Rett syndrome may help us understand the phenomenon in autism, as it occurs at the same time in both disorders and includes many of the same features, says Jeffrey Neul.
The discovery of microRNAs that regulate gene expression has changed our view of cellular biochemistry. It may also change our perception of neuropsychiatric disorders such as autism, says Peng Jin.
Most parents educate themselves as much as possible when their child is diagnosed with a disorder. A handful of others — in many cases, mothers — have devoted their professional lives to research on autism-related disorders.
Defects in cholesterol metabolism may influence the severity of Rett syndrome, suggesting a treatment for the autism-related disorder, according to research presented Thursday at the 2013 International Meeting for Autism Research in San Sebastián, Spain.
A single gene mutation leads to Rett syndrome, but other variants may modify the severity of an individual’s symptoms, according to a study published 28 February in PLoS One.
Chromosomal duplications or deletions may influence autism-linked genes indirectly, by altering fragments of RNA that regulate gene expression, according to a study published 25 February in PLoS One.
The onset of Rett syndrome, which is marked by the sudden loss of speech and motor skills, is more gradual than previously believed, according to two studies published in the past few months.