Researchers have created the first mouse model of Timothy syndrome, a rare genetic disorder that causes heart defects and autism. The findings appeared 30 August in the Proceedings of the National Academy of Sciences.
A new technique allows researchers to make stable modifications to neurons by incorporating modified amino acids into the proteins of stem cells. The method permits researchers to investigate neuronal function in live, intact cells.
Harmful mutations in a gene that regulates the chemical environment outside of neurons are associated with both autism and epilepsy, according to a study published 31 March in Neurobiology of Disease.
Large studies on the epidemiology and genetics of epilepsy and autism have uncovered commonalities between the two disorders. But scientists are only beginning to untangle the biological roots of the overlap.
Rare mutations with strong effects play a key role in autism and schizophrenia, according to a study published in February in PLoS Genetics. The study identifies rare harmful mutations in three candidate genes that are more common in individuals with one of the disorders than in controls.
Accounting for gender increases the power of family-wide studies linking genetic mutations with autism, according to a study published in December in Molecular Psychiatry. The researchers use this approach to identify two candidate genes for the disorder.
Mice bearing the genetic defect that causes Timothy syndrome show many autism-like behaviors, and may also have enhanced cognitive abilities like those seen in a small number of people with autism, suggests a poster presented Sunday at the Society for Neuroscience annual meeting in San Diego.
Mouse models of fragile X syndrome show defects in two kinds of potassium channels — ubiquitous pores that control the flow of electrical current across neurons — in a brain area that processes sound, according to two papers published this summer.
Several independent groups have found previously unknown risk genes for autism, schizophrenia and mental retardation. The candidate genes have one thing in common: they encode proteins that are needed for the healthy function of synapses, the junctions between neurons.
FMRP, the protein missing in fragile X syndrome, is needed for the birth of new neurons, for regulating the translation of RNA into protein, and for maintaining the structural integrity of spiny neuronal projections, according to several new studies.