Deletions or duplications of the UBE3A gene lead to both Angelman syndrome and some cases of autism, respectively. Studying the effects of altered gene dosage in this region will provide insights into brain defects and suggest targets for therapies for both disorders, says expert Benjamin Philpot.
Neurexin 1, an autism-associated protein that functions at the junctions between neurons, has a flexible hinge that can toggle the protein between a more compact or a more accessible shape, a crystal structure published 8 June in Structure reveals.
FOXP2, a gene tied to autism and language disorders, is needed for proper wiring of the developing brain, according to a study published 7 July in PLoS Genetics.
Several targeted trials on drugs that treat fragile X syndrome are under way. But accurate endpoints to measure the drugs’ effectiveness are crucial, argues developmental and behavioral pediatrician Randi Hagerman.
MeCP2, the protein that’s missing or mutated in Rett syndrome, is crucial for remodeling neural circuits in response to vision, according to a study published in April in Neuron.
Of 72 newly elected members of the National Academy of Sciences, 7 work either directly on autism or in related areas, illustrating the growing intellectual breadth and depth of the field.
Treating adult mice with lithium restores the ability of neurons in fragile X mice to fine-tune their signaling, according to a study published online in November in Brain Research.
Blocking the expression of the MeCP2 gene decreases the number of synapses, the junctions between neurons. It also prevents synapses from scaling up their activity to make up for the loss, according to unpublished data shown yesterday at the Society for Neuroscience annual meeting in San Diego.
A drug that interferes with a biochemical pathway important in cancer can reverse some brain defects in mouse models of fragile X syndrome, according to a study published 11 August in the Journal of Neuroscience.
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.