PTEN in Autism and Neurodevelopmental Disorders.

Abstract

Phosphatase and tensin homolog (PTEN) is a classical tumor suppressor that antagonizes phosphatidylinositol 3-phosphate kinase (PI3K)/AKT signaling. Although there is a strong association of PTEN germline mutations with cancer syndromes, they have also been described in a subset of patients with autism spectrum disorders with macrocephaly characterized by impairments in social interactions and communication, repetitive behavior and, occasionally, epilepsy. To investigate PTEN's role during neurodevelopment and its implication for autism, several conditional Pten knockout mouse models have been generated. These models are valuable tools to understand PTEN's spatiotemporal roles during neurodevelopment. In this review, we will highlight the anatomical and phenotypic results from animal studies and link them to cellular and molecular findings.

• Authors: Sebastian Rademacher, Britta J Eickholt
• Journal: Cold Spring Harbor perspectives in medicine (Cold Spring Harb Perspect Med) Vol. 9 Issue 11 (11 01 2019) ISSN: 2157-1422 [Electronic] United States
• PMID: 31427284 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2019 Cold Spring Harbor Laboratory Press; all rights reserved.

Chemical References

• PTEN Phosphohydrolase
• PTEN protein, human
• Pten protein, mouse

Topics

• Animals
• Autism Spectrum Disorder (genetics, metabolism)
• Disease Models, Animal
• Humans
• Mice
• Mice, Knockout
• Neurodevelopmental Disorders
• PTEN Phosphohydrolase (genetics, metabolism)
• Phosphatidylinositol 3-Kinases (genetics)
• Signal Transduction