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Anatomy and cell biology of autism spectrum disorder: Lessons from human genetics

Chapter in book
Authors K. T. E. Kleijer
G. Huguet
J. Tastet
Thomas Bourgeron
J. P. H. Burbach
Published in Translational Anatomy and Cell Biology of Autism Spectrum Disorder
Pages 224, 1-+
ISBN 978-3-319-52498-6
ISSN 0301-5556
Publisher Springer
Publication year 2017
Published at Gillberg Neuropsychiatry Centre
Pages 224, 1-+
Language en
Subject categories Medical Genetics


Until recently autism spectrum disorder (ASD) was regarded as a neurodevelopmental condition with unknown causes and pathogenesis. In the footsteps of the revolution of genome technologies and genetics, and with its high degree of heritability, ASD became the first neuropsychiatric disorder for which clues towards molecular and cellular pathogenesis were uncovered by genetic identification of susceptibility genes. Currently several hundreds of risk genes have been assigned, with a recurrence below 1% in the ASD population. The multitude and diversity of known ASD genes has extended the clinical notion that ASD comprises very heterogeneous conditions ranging from severe intellectual disabilities to mild high-functioning forms. The results of genetics have allowed to pinpoint a limited number of cellular and molecular processes likely involved in ASD including protein synthesis, signal transduction, transcription/chromatin remodelling and synaptic function all playing an essential role in the regulation of synaptic homeostasis during brain development. In this context, we highlight the role of protein synthesis as a key process in ASD pathogenesis as it might be central in synaptic deregulation and a potential target for intervention. These current insights should lead to a rational design of interventions in molecular and cellular pathways of ASD pathogenesis that may be applied to affected individuals in the future. © 2017, Springer International Publishing AG.

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