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The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development

Authors :
Qing Ma
Guang Chen
Ying Li
Zhenming Guo
Xue Zhang
Source :
Genes and Diseases, Vol 11, Iss 5, Pp 101021- (2024)
Publication Year :
2024
Publisher :
KeAi Communications Co., Ltd., 2024.

Abstract

Malformations of cortical development (MCD) are a group of developmental disorders characterized by abnormal cortical structures caused by genetic or harmful environmental factors. Many kinds of MCD are caused by genetic variation. MCD is the common cause of intellectual disability and intractable epilepsy. With rapid advances in imaging and sequencing technologies, the diagnostic rate of MCD has been increasing, and many potential genes causing MCD have been successively identified. However, the high genetic heterogeneity of MCD makes it challenging to understand the molecular pathogenesis of MCD and to identify effective targeted drugs. Thus, in this review, we outline important events of cortical development. Then we illustrate the progress of molecular genetic studies about MCD focusing on the PI3K/PTEN/AKT/mTOR pathway. Finally, we briefly discuss the diagnostic methods, disease models, and therapeutic strategies for MCD. The information will facilitate further research on MCD. Understanding the role of the PI3K/PTEN/AKT/mTOR pathway in MCD could lead to a novel strategy for treating MCD-related diseases.

Details

Language :
English
ISSN :
23523042
Volume :
11
Issue :
5
Database :
Directory of Open Access Journals
Journal :
Genes and Diseases
Publication Type :
Academic Journal
Accession number :
edsdoj.2ae46e4569c4425d8fbcf74f1e079228
Document Type :
article
Full Text :
https://doi.org/10.1016/j.gendis.2023.04.041