Pups born to mothers that experience low oxygen during sleep have overactive mTOR signaling, which has been linked to some forms of autism.
Spectrum: Autism Research News
The drug suppresses an overactive signaling pathway implicated in tuberous sclerosis complex.
Model mice of the subtype also show hyperactivity in a signaling pathway called mTOR, bolstering the idea that distinct forms of autism have different biological roots and may require different treatment approaches.
Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.
Long known as the director of movement, the cerebellum may also coordinate social and cognitive abilities, including those central to autism.
Blocking one form of an enzyme implicated in autism eases unusual behaviors and seizures in mice missing a top autism gene.
Tuberous sclerosis provides a unique opportunity to understand autism because about half of people with that single-gene condition also have autism.
David and Bernardo Sabatini, brothers born just a year and a half year apart, invent their way to answering big questions about autism.
The drug rapamycin, which is in clinical trials as a treatment for tuberous sclerosis, may exacerbate features of fragile X syndrome, another condition related to autism.
A drug called rapamycin prevents seizures in a mouse model of the autism-related condition tuberous sclerosis complex.