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

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

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Malformations of cortical development(MCD)are a group of developmental disor-ders characterized by abnormal cortical structures caused by genetic or harmful environ-mental 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 devel-opment.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.

EpilepsyGene mutationGeneticsMalformations of cortical developmentPI3K/PTEN/AKT/mTOR pathway

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

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NHC and CAMS Key Laboratory of Molecular Probe and Targeted Theranostics,Harbin Medical University,Harbin,Heilongjiang 150000,China

Department of Urology,The Fourth Hospital of Harbin Medical University,Harbin,Heilongjiang 150000,China

Department of Child and Adolescent Health,School of Public Health,Harbin Medical University,Harbin,Heilongjiang 150000,China

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

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Tou-Yan Innovation Team Program of the Heilongjiang Province,China

2019-15

2024

10.1016/j.gendis.2023.04.041

基因与疾病(英文)

基因与疾病(英文)

ISSN：
年,卷(期)：2024.11(5)