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

Qing Ma; Guang Chen; Ying Li; Zhenming Guo; Xue Zhang

Genes and Diseases (Sep 2024)

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

Qing Ma,
Guang Chen,
Ying Li,
Zhenming Guo,
Xue Zhang

Affiliations

Qing Ma: NHC and CAMS Key Laboratory of Molecular Probe and Targeted Theranostics, Harbin Medical University, Harbin, Heilongjiang 150000, China
Guang Chen: Department of Urology, The Fourth Hospital of Harbin Medical University, Harbin, Heilongjiang 150000, China
Ying Li: NHC and CAMS Key Laboratory of Molecular Probe and Targeted Theranostics, Harbin Medical University, Harbin, Heilongjiang 150000, China; Department of Child and Adolescent Health, School of Public Health, Harbin Medical University, Harbin, Heilongjiang 150000, China
Zhenming Guo: Institute for Regenerative Medicine, Shanghai East Hospital, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai 200120, China
Xue Zhang: NHC and CAMS Key Laboratory of Molecular Probe and Targeted Theranostics, Harbin Medical University, Harbin, Heilongjiang 150000, China; Corresponding author.

Journal volume & issue: Vol. 11, no. 5
p. 101021

Abstract

Read online

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.

Published in Genes and Diseases

ISSN: 2352-3042 (Online)
Publisher: KeAi Communications Co., Ltd.
Country of publisher: China
LCC subjects: Medicine: Medicine (General); Science: Biology (General): Genetics
Website: https://www.keaipublishing.com/en/journals/genes-and-diseases/

About the journal

Abstract

Keywords