title: Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism.
abstract: The mammalian target of rapamycin (mTOR) is a central regulator of a diverse array of cellular processes, including cell growth, proliferation, autophagy, translation, and actin polymerization. Components of the mTOR cascade are present at synapses and influence synaptic plasticity and spine morphogenesis. A prevailing view is that the study of mTOR and its role in autism spectrum disorders (ASDs) will elucidate the molecular mechanisms by which mTOR regulates neuronal function under physiological and pathological conditions. Although many ASDs arise as a result of mutations in genes with multiple molecular functions, they appear to converge on common biological pathways that give rise to autism-relevant behaviors. Dysregulation of mTOR signaling has been identified as a phenotypic feature common to fragile X syndrome, tuberous sclerosis complex 1 and 2, neurofibromatosis 1, phosphatase and tensin homolog, and potentially Rett syndrome. Below are a summary of topics covered in a symposium that presents dysregulation of mTOR as a unifying theme in a subset of ASDs.
authors.affiliation: Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas 75390.
authors.forename: Kimberly M
authors.initials: KM
authors.lastname: Huber
authors.affiliation: Center for Neural Science, New York University, New York, New York 10003.
authors.forename: Eric
authors.initials: E
authors.lastname: Klann
authors.affiliation: Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, and.
authors.forename: Mauro
authors.initials: M
authors.lastname: Costa-Mattioli
authors.affiliation: Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, New York, New York 10461 suzanne.zukin@einstein.yu.edu.
authors.forename: R Suzanne
authors.initials: RS
authors.lastname: Zukin
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000378:metabolism* / Q000473:pathology* / Q000503:physiopathology; D004195:Disease Models, Animal; D006801:Humans; D008954:Models, Biological; D015398:Signal Transduction / Q000502:physiology*; D020123:Sirolimus / Q000378:metabolism*
chemical_list: D020123:Sirolimus
keywords: Fragile X syndromes; mTOR signaling; mouse models of autism; protein synthesis pathway