PTEN as a regulator of the PI3K/AKT pathway Involvement of a growth- and survival pathway in the development of autism spectrum disorders

Abstract

Autism spectrum disorders (ASD) are a complex group of neurodevelopmental disorders, characterized by difficulties in social relationships and abnormal behaviors. Although ASD is known to be highly heritable, the underlying genetic factors remain to be unknown for most of the cases. The tumor-suppressor gene PTEN is one of the few genes for which an association with ASD is proven. It is known that disturbance of its function as a regulator of the growth-stimulating PI3K/AKT pathway can result in ASD. However, much has to be learned about the precise mechanism by which PTEN mutations can lead to the disorder. In this thesis, an overview of the current information about PTENs involvement in the development of ASD is provided. Besides, a database search is performed to explore if mutations in other players in the PI3K/AKT pathway are involved in the development of ASD. The results of this study suggest that besides PTEN, no other players in the PI3K/AKT pathway have a significant role in the cause of ASD.