Researchers have developed the first stem cell system that makes it possible to study the early development of neurons from people with Rett syndrome, a rare disorder on the autism spectrum.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
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 It also prevents synapses from scaling up their activity to make up for the loss, according to unpublished data shown yesterday at the Society for Neuroscience annual meeting in San Diego.
UBE3A, a protein mutated in Angelman syndrome and autism, regulates communication between neurons in the brain, according to a study published 29 October in Cell.
Mice bearing the genetic defect that causes Timothy syndrome show many autism-like behaviors, and may also have enhanced cognitive abilities like those seen in a small number of people with autism, suggests a poster presented Sunday at the Society for Neuroscience annual meeting in San Diego.
A variety of animal models can help researchers better address human-specific questions in neurological disorders such as autism, says Theresa Lee, who has used exotic animal models to study circadian rhythms.
The gene-environment interactions that are thought to contribute to many cases of autism can now be explored in a mouse model, according to a poster presented Sunday at the Society for Neuroscience annual meeting in San Diego.
Researchers have narrowed down a genetic region associated with autism to one protein, cadherin 8, that helps bind cells together, according to a study published online in October in the Journal of Medical Genetics. This is the first time CDH8, the gene that encodes this protein, has been associated with autism.
Stem cell studies show that a mutation in the neuroligin-4 gene disrupts the normal development of synapses, the junction between neurons, according to unpublished data shown Sunday at the Society for Neuroscience annual meeting in San Diego.