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Int. J. Mol. Sci. 2017, 18(3), 659; doi:10.3390/ijms18030659

Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?

1
Hospital Israelita Albert Einstein, Centro de Pesquisa Experimental, São Paulo 05652-900, Brazil
2
Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo 05508-090, Brazil
*
Author to whom correspondence should be addressed.
Academic Editor: Merlin G. Butler
Received: 20 February 2017 / Revised: 13 March 2017 / Accepted: 14 March 2017 / Published: 18 March 2017
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Abstract

Whereas autism spectrum disorder (ASD) exhibits striking heterogeneity in genetics and clinical presentation, dysfunction of mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway has been identified as a molecular feature common to several well-characterized syndromes with high prevalence of ASD. Additionally, recent findings have also implicated mTORC1 signaling abnormalities in a subset of nonsyndromic ASD, suggesting that defective mTORC1 pathway may be a potential converging mechanism in ASD pathology across different etiologies. However, the mechanistic evidence for a causal link between aberrant mTORC1 pathway activity and ASD neurobehavioral features varies depending on the ASD form involved. In this review, we first discuss six monogenic ASD-related syndromes, including both classical and potentially novel mTORopathies, highlighting their contribution to our understanding of the neurobiological mechanisms underlying ASD, and then we discuss existing evidence suggesting that aberrant mTORC1 signaling may also play a role in nonsyndromic ASD. View Full-Text
Keywords: mTORC1 signaling pathway; ASD-related syndromes and nonsyndromic/idiopathic ASD; neuronal cell growth; axonal and dendritic morphogenesis; dendritic spine density and maturation; synaptic plasticity; mTORC1-targeted therapies mTORC1 signaling pathway; ASD-related syndromes and nonsyndromic/idiopathic ASD; neuronal cell growth; axonal and dendritic morphogenesis; dendritic spine density and maturation; synaptic plasticity; mTORC1-targeted therapies
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Magdalon, J.; Sánchez-Sánchez, S.M.; Griesi-Oliveira, K.; Sertié, A.L. Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder? Int. J. Mol. Sci. 2017, 18, 659.

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