Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism.

Details

Serval ID
serval:BIB_82B48C2387A5
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism.
Journal
Translational psychiatry
Author(s)
Rosina E., Battan B., Siracusano M., Di Criscio L., Hollis F., Pacini L., Curatolo P., Bagni C.
ISSN
2158-3188 (Electronic)
ISSN-L
2158-3188
Publication state
Published
Issued date
31/01/2019
Peer-reviewed
Oui
Volume
9
Number
1
Pages
50
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Abstract
The molecular signature underlying autism spectrum disorder remains largely unknown. This study identifies differential expression of mTOR and MAPK pathways in patients affected by mild and severe idiopathic autism. A total of 55 subjects were enrolled, of which 22 were typically developing individuals and 33 were patients aged between 3 and 11 years, with autism spectrum disorder. A detailed history, including physical examination, developmental evaluation, mental health history and autism diagnostic observation schedule were performed for each patient. Components of the mTOR and MAPK signalling pathways were analysed from peripheral blood at the protein level. Patients were then stratified according to their clinical phenotypes, and the molecular profiling was analysed in relation to the degree of autism severity. In this cohort of patients, we identified increased activity of mTOR and the MAPK pathways, key regulators of synaptogenesis and protein synthesis. Specifically, rpS6, p-eIF4E, TSC1 and p-MNK1 expression discriminated patients according to their clinical diagnosis, suggesting that components of protein synthesis signalling pathways might constitute a molecular signature of clinical severity in autism spectrum disorder.
Keywords
Autism Spectrum Disorder/genetics, Child, Child, Preschool, Female, Humans, Intracellular Signaling Peptides and Proteins/genetics, MAP Kinase Signaling System/genetics, Male, Neurogenesis/genetics, Nucleocytoplasmic Transport Proteins/genetics, Protein-Serine-Threonine Kinases/genetics, Ribosomal Protein S6 Kinases, 90-kDa/genetics, TOR Serine-Threonine Kinases/genetics, Tuberous Sclerosis Complex 1 Protein/genetics
Pubmed
Web of science
Open Access
Yes
Create date
07/02/2019 10:53
Last modification date
20/08/2019 15:42
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