Neurotrophin blood-based gene expression and

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analysis in patients with autism spectrum disorder ..... levels have been described like abnormalities in flex- ibility, planning, inhibition, ToM and working memory. [77–79]. .... Briegel W, Thome J, Schwenck C, Romanos M, Gerlach M (2014).
Neurotrophin blood-based gene expression and social cognition analysis in patients with autism spectrum disorder Mònica Segura, Carla Pedreño, Jordi Obiols, Regina Taurines, Montserrat Pàmias, Edna Grünblatt & Alejandro Gella neurogenetics ISSN 1364-6745 Neurogenetics DOI 10.1007/s10048-014-0434-9

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Author's personal copy Neurogenetics DOI 10.1007/s10048-014-0434-9

ORIGINAL ARTICLE

Neurotrophin blood-based gene expression and social cognition analysis in patients with autism spectrum disorder Mònica Segura & Carla Pedreño & Jordi Obiols & Regina Taurines & Montserrat Pàmias & Edna Grünblatt & Alejandro Gella

Received: 16 October 2014 / Accepted: 10 December 2014 # Springer-Verlag Berlin Heidelberg 2014

Abstract Autism spectrum disorders (ASD) comprise neurodevelopmental disorders with clinical onset during the first years of life. The identification of peripheral biomarkers could significantly impact diagnosis and an individualized, early treatment. Although the aetiology of ASD remains poorly understood, there is increasing evidence that neurotrophins and their receptors represent a group of candidate genes for ASD pathophysiology and biomarker research. Total messenger RNA (mRNA) from whole blood was obtained from adolescents and adults diagnosed as ASD (n=21) according to DSM-IV criteria and confirmed by the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R) algorithms, as well as healthy

controls (n=10). The mRNA expression of neurotrophins (BDNF, NT3 and NT4) and their receptors (TrkA, TrkB and p75NTR) was determined by quantitative real-time polymerase chain reaction (qRT-PCR). Moreover, social cognition abilities of ASD patients and controls were determined according to three Theory of Mind (ToM) tests (Reading the Mind in the Eyes, Faux pas, and Happé stories). The NT3 and NT4 mRNA expression in the whole blood was significantly lower in ASD compared to healthy controls, while p75NTR was higher (P