Insulin-like growth factor 1, a drug approved for use in children with short stature, reverses neurological deficits in mice with an autism-linked mutation in the SHANK3 gene, according to a study published 27 April in Molecular Autism.
To focus the search for environmental risk factors in autism, we should look for chemicals that influence the molecular pathways associated with candidate risk genes, say Pamela Lein and Marianna Stamou.
A boy with autism lacks one copy of SHANK2 and has a duplication of CHRNA7, two genes that have been linked together to autism risk, according to a case study published 25 January in Clinical Genetics.
The SHANK3 mouse model described in a 2011 Cell paper that was retracted 17 January is still worth studying, says Alan Packer.
Mutations in SHANK3, a leading autism risk gene, occur in roughly two percent of individuals with autism spectrum disorders, according to a study published 15 August in the European Journal of Human Genetics.
Thomas Bourgeron discovered the first rare mutation linked to non-syndromic autism, pointing to neuronal connections as prime drug targets.
Different mutations in the autism-linked SHANK3 gene lead to distinct glitches at the synapse, the junction between neurons, according to unpublished research presented Tuesday at the 2012 Society for Neuroscience annual meeting in New Orleans.
Two well-known mouse models of autism show abnormal reactions to an eye-blinking test that relies on the cerebellum, a brain region that helps integrate sensory information and plan movements. The unpublished results were presented in a poster Monday at the 2012 Society for Neuroscience annual meeting in New Orleans.
People with Phelan-McDermid syndrome, which causes severe intellectual disability and is often accompanied by autism, also have a blunted response to pain. New research on a mouse model of the syndrome, presented at the 2012 Society for Neuroscience annual meeting, aims to find out why.