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

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 preval...

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Bibliographic Details
Published in:International journal of molecular sciences 2017-03, Vol.18 (3), p.659-659
Main Authors: Magdalon, Juliana, Sánchez-Sánchez, Sandra M, Griesi-Oliveira, Karina, Sertié, Andréa L
Format: Article
Language:English
Subjects:
Abnormalities
Autism
Autism Spectrum Disorder - genetics
Autism Spectrum Disorder - metabolism
Autism Spectrum Disorder - pathology
Brain
Cyclin-dependent kinases
Etiology
Humans
Kinases
Mechanistic Target of Rapamycin Complex 1
Multiprotein Complexes - genetics
Multiprotein Complexes - metabolism
Mutation
Neurons
Pathogenesis
Proteins
Rapamycin
Review
Signal Transduction
TOR protein
TOR Serine-Threonine Kinases - genetics
TOR Serine-Threonine Kinases - metabolism
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Summary: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.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms18030659