A significant proportion of mutations linked to autism alter proteins that regulate gene expression by modifying the structure of DNA, according to a study published 13 November in 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.
Smart risk management has propelled Benjamin Philpot from one adventure to another, whether it’s attempting unusual drug screens, learning to rock climb or taking his family to see volcanoes in Chile. His optimism and scientific vigor have led to discoveries for the rare Angelman syndrome, and for the wider autism spectrum.
Autworks, a new online tool, has data on almost 20,000 human genes linked to nearly 3,000 disorders. The tool, published 28 November in BMC Medical Genomics, creates gene-network maps for each disorder and highlights the overlap between them.
Solving the riddle of autism genetics will require looking beyond the growing list of candidate genes to epigenetics and personalized medicine.
Four new studies of neuroligin-1 (NLGN1), a gene linked to autism, unravel its complex role in regulating the connections between neurons.
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.
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 charted patterns of gene expression in a three-dimensional representation of the human brain. The results, published 20 September in Nature, show that different brain regions have distinct molecular and functional roles.
Postmortem brains from individuals with autism have abnormal levels of long non-coding RNAs, which regulate the expression of genes, according to a study published 5 September in the Journal of Molecular Neuroscience.