Researchers have uncovered a new role for the protein missing in fragile X syndrome — it regulates the release of neurotransmitters, chemical messengers in the brain, according to a mouse study published 20 February in Neuron.
A mild form of fragile X syndrome that can lead to the full syndrome in one generation is more common than previously thought, according to a large study published 21 December in Genome Medicine.
Bumetanide, a drug that’s long been used to treat high blood pressure, modestly improves social behaviors in children with mild forms of autism, according to the results of a small trial published in December in Translational Psychiatry.
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.
Neurons in mice that model fragile X syndrome show immature, overexcitable firing patterns, particularly during sleep, according to unpublished research presented last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
Activating the expression of FMR1, the gene mutated in fragile X syndrome, in adult mice reverses symptoms of the syndrome, according to a poster presented Monday at the Society for Neuroscience annual meeting in New Orleans.
Rats lacking FMR1, the gene mutated in people with fragile X syndrome, do not learn to discriminate between human speech sounds like control rats do, according to research presented Monday evening at the 2012 Society for Neuroscience annual meeting in New Orleans.
Mutations in AFF2, a gene located on the X chromosome, are about five times as common in men with autism as in controls, according to a study published 10 July in Human Molecular Genetics.
SAGE Labs has announced a new partnership with the autism science and advocacy organization Autism Speaks to fund the creation of three new rat models of autism.
Women who have a milder version of the fragile X mutation, which can lead to the full mutation in their children, have some features of autism, according to a study published 12 June in the American Journal of Medical Genetics.