Small pieces of RNA restore the expression of a key gene missing in Angelman syndrome and offer the promise of a highly specific cure, researchers reported Monday in Nature.
Varying the number of copies of a single autism-linked gene modulates social behavior and aggression in mice, according to unpublished results presented yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.
Mice with an extra copy of the autism-linked gene UBE3A show abnormal social behavior after experiencing recurrent seizures. The findings, presented Tuesday at the Autism Consortium Research Symposium in Boston, provide one possible explanation for why seizures and autism often go hand in hand.
Drugs that activate the silent copy of the X chromosome in women may be able to undo the damage from mutations in genes located there. The study, published 2 September in Proceedings of the National Academy of Sciences, offers hope for treating Rett syndrome and other disorders linked to the chromosome.
Neurologist Lawrence Reiter is growing neurons from the discarded teeth of children with neurological syndromes. Here he describes how dental pulp may help researchers find the genes and pathways that underlie autism symptoms.
Drugs designed to treat Angelman syndrome may alleviate symptoms only if given during a ‘critical period’ early in development. That’s the upshot from unpublished results presented yesterday at a conference in Boston.
The nature of the mutation that leads to Angelman syndrome — a disorder characterized by speech impairment and developmental delays — affects the disorder’s presentation, reports a study published 19 March in Research in Developmental Disabilities.
Long pieces of RNA that do not code for protein have diverse and important roles in the cell and may contribute to autism risk, say Nikolaos Mellios and Mriganka Sur.
Mutations in TRIM33, a protein that is part of the cell’s cleanup crew, may up the risk for autism, according to a study published 5 November in Molecular Psychiatry.
Mutations in a single gene in 15q11.13 — a chromosomal region linked to multiple neurological disorders — may increase the risk of autism, according a study published in November in Nature Genetics.