Principal molecular pathways affected in autism spectrum disorder

Younes, Salma N., Al-Jurf, Rana, Hammuda, Sara, Nasrallah, Gheyath K., Zayed, Hatem, Qoronfleh, M. Walid, Ismail, Mohamed A., Farrell, Tom, Al-Rifai, Hilal, Samara, Muthanna and Al-Dewik, Nader (2022) Principal molecular pathways affected in autism spectrum disorder. In: Qoronfleh, M. Walid , Essa, Musthafa Mohamed and Chidambaram, Saravana Babu, (eds.) Proteins associated with neurodevelopmental disorders. Singapore : Springer Singapore. pp. 1-47. (Nutritional Neurosciences) ISSN (print) 2730-6712 ISBN 9789811597800


Autism spectrum disorder (ASD) development is a highly multifaceted process as evidenced by the complexity of the factors involved in the etiology of ASD, including genetic and nongenetic factors. Several forms of ASD result from genetic alterations in genes that regulate the process of protein synthesis. A growing body of evidence suggests that abnormal synaptic protein synthesis might contribute to ASD and ASD-like clinical features. Several reports of different mutated genes responsible for ASD cases and genetic models have emerged, revealing dysregulation of many crucial signaling pathways. In this chapter, the authors summarize the various factors described to contribute to ASD, both genetic and nongenetic, and their association with WNT, SHH, RA, FGF, and BMP/TGF-β signaling pathways. In addition, the authors discuss the scope for additional research for a better understanding of the pathophysiology of ASD in the context of disrupted signaling pathways, which could help open the doors to identify possible gene targets and novel therapeutic strategies.

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