| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6267327 | Current Opinion in Neurobiology | 2012 | 7 Pages |
PTEN germline mutations are found in a small subset of children diagnosed with autism spectrum disorder (ASD) and accompanying macrocephaly. In this review, we discuss recent advances that offer insight into the pathogenesis of this subgroup of autism patients. We provide an overview of how disrupting PTEN function influences neuronal cells, and describe efforts to decipher the cellular mechanisms associated with altered social behaviors. We discuss the PTEN downstream signaling pathways that likely mediate these cellular and behavioral effects. In addition, emerging data suggest that PTEN mutation can synergize with mutations in other autism susceptibility genes to contribute to the development of autistic behaviors. These studies extend our knowledge of PTEN and the PTEN signaling pathway, and offer molecular and cellular clues to better understand the etiology of ASDs.
⺠PTEN is a negative regulator of the PI3K/AKT pathway, and Pten germline mutations are found in a small subset of autism patients. ⺠Loss of PTEN function in the brain has profound and multiple effects on neuronal cells. ⺠The TSC/mTORC1 signaling pathway is a major PI3K/PTEN/AKT downstream pathway that mediates cellular and behavioral effects in the nervous system. ⺠The PTEN pathway can synergize with other signaling pathways to control social behavior.
