Clinical research: Rett symptoms emerge early, gradually
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.
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.
Induced pluripotent stem cells, which have the ability to become any cell type, including neurons, offer a powerful way to study neuropsychiatric disorders. But for this approach to reach its full potential, researchers must first address several challenges, such as variability between cell lines, say Flora Vaccarino and Jessica Mariani.
A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.
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.
A newly discovered DNA modification may play a role in development and regulate the expression of genes linked to fragile X syndrome and autism, according to a study published 5 October in Human Molecular Genetics.
New work suggests that the skin, a common source for deriving induced pluripotent stem cells, is a genetic mosaic. What does this mean for stem cell research? Are there implications for the human brain?
Some of the genetic variability seen in stem cells derived from skin arises from differences in the skin cells themselves, according to a study published 18 November in Nature. The findings have implications for both stem cell research and our understanding of human biology.
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.
Researchers have used stem cells to identify 801 neuronal genes that are preferentially expressed from either the maternal or paternal chromosome, according to a study published 30 August in PLoS One. Of these genes, 26 are linked to autism and 48 to schizophrenia.