Hunt for targets of fragile X protein proves perplexing
FMRP, the protein missing in fragile X syndrome, binds to the RNA sequences of 939 genes, 93 of which have been linked to autism, according to a study published 20 December in Nature.
FMRP, the protein missing in fragile X syndrome, binds to the RNA sequences of 939 genes, 93 of which have been linked to autism, according to a study published 20 December in Nature.
A new study bolsters the idea that overactive protein synthesis contributes to autism. The findings, published 21 November in Nature, show that dampening a single overabundant protein, neuroligin-1, reverses both abnormal brain activity and social deficits in mice.
A new mouse model provides the first molecular link between the known autism risk gene PTEN and the mitochondrial dysfunction sometimes seen in the disorder. Mice with half the normal amount of PTEN protein in their brains have social deficits reminiscent of autism and faulty mitochondria, according to a study published 10 August in PLoS One.
Knocking out an autism-linked gene called PTEN only in neural stem cells of the hippocampus, a brain region central to learning and memory, throws the development of new neurons off course in adult mice, according to research published last month in the Journal of Neuroscience.
Neurons lacking PTEN, an autism-associated gene also involved in cancer, are hyperconnected to both near and distant brain cells, according to a study published 1 February in The Journal of Neuroscience.
SP1, a protein that regulates the expression of several autism candidate genes, could increase risk of the disorder by simultaneously altering the expression of a number of the genes, according to a study published 24 October in Biological Psychiatry.
Postmortem brains from adults with autism have lower-than-normal levels of the fragile X mental retardation protein, which is missing in individuals with fragile X syndrome.
The protein missing in people with fragile X syndrome regulates the activity of more than 800 other proteins, including some key players in autism, according to a study published 22 July in Cell. Many of these autism-associated proteins cluster on either side of the synapse, the junction between neurons.
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.
Two new studies of families carrying glitches on a region of chromosome 16, which has been strongly associated with autism, reveal the wide range of effects caused by the variant and narrow the list of possible culprit genes.