PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets.
Publication/Presentation Date
12-1-2021
Abstract
The lack of effective treatments for autism spectrum disorder (ASD) and congenital hydrocephalus (CH) reflects the limited understanding of the biology underlying these common neurodevelopmental disorders. Although ASD and CH have been extensively studied as independent entities, recent human genomic and preclinical animal studies have uncovered shared molecular pathophysiology. Here, we review and discuss phenotypic, genomic, and molecular similarities between ASD and CH, and identify the PTEN-PI3K-mTOR (phosphatase and tensin homolog-phosphoinositide 3-kinase-mammalian target of rapamycin) pathway as a common underlying mechanism that holds diagnostic, prognostic, and therapeutic promise for individuals with ASD and CH.
Volume
44
Issue
12
First Page
961
Last Page
976
ISSN
1878-108X
Published In/Presented At
DeSpenza, T., Jr, Carlson, M., Panchagnula, S., Robert, S., Duy, P. Q., Mermin-Bunnell, N., Reeves, B. C., Kundishora, A., Elsamadicy, A. A., Smith, H., Ocken, J., Alper, S. L., Jin, S. C., Hoffman, E. J., & Kahle, K. T. (2021). PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends in neurosciences, 44(12), 961–976. https://doi.org/10.1016/j.tins.2021.08.007
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
34625286
Department(s)
Administration and Leadership
Document Type
Article