Deleting both copies of a gene linked to tuberous sclerosis complex, an autism-related disorder, in only a subset of brain cells recapitulates many of the disorder’s symptoms in mice, according to a study published 9 May in Neuron.
Spectrum: Autism Research News
Tag: tuberous sclerosis
In 2003, John Rubenstein and Michael Merzenich first described the theory, now popular in autism, that the disorder reflects an imbalance between excitation and inhibition in the brain. Takao K. Hensch and Parizad M. Bilimoria review the paper and its impact on the field.
Children with the autism-related disorder tuberous sclerosis complex show sluggish brain activity in response to images of faces, according to a study published 8 November in the Journal of Child Neurology.
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 The unpublished results were presented in a poster Monday at the 2012 Society for Neuroscience annual meeting in New Orleans.
Abnormalities in the connections between language-related brain regions are similar in people with autism and those with tuberous sclerosis, a genetic disorder characterized by benign tumors throughout the brain and body, according to a paper published 1 June in Cerebral Cortex.
Losing one or both copies of TSC1, one of the two genes responsible for tuberous sclerosis complex, in specific cells of the cerebellum can trigger several autism-like behaviors in mice, according to research published 1 July in Nature.
Studying tuberous sclerosis provides researchers with a unique opportunity to find a common pathway among the various genetic causes of autism, says neurologist Mustafa Sahin.
Dysregulation of the intracellular signaling pathway RAS, a risk factor for idiopathic autism, may provide a unifying theory of the disorder. Although this is not an altogether new hypothesis, several new findings have strengthened the evidence for it considerably.