Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism

• Published in: The Journal of neuroscience Vol. 35; no. 41; pp. 13836 - 13842
• Main Authors: Huber, Kimberly M, Klann, Eric, Costa-Mattioli, Mauro, Zukin, R Suzanne
• Format: Journal Article
• Language: English
• Published: United States Society for Neuroscience 14-10-2015
• Subjects: Animals; Autistic Disorder - metabolism; Autistic Disorder - pathology; Autistic Disorder - physiopathology; Disease Models, Animal; Humans; Models, Biological; Signal Transduction - physiology; Sirolimus - metabolism; Symposium and Mini-Symposium; mouse models of autism; mTOR signaling; protein synthesis pathway; Fragile X syndromes
• ISSN: 0270-6474; 1529-2401
• DOI: 10.1523/jneurosci.2656-15.2015

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.