Related Experiment Video

Updated: Jun 21, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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

Qing Ma1, Guang Chen2, Ying Li1,3

  • 1NHC and CAMS Key Laboratory of Molecular Probe and Targeted Theranostics, Harbin Medical University, Harbin, Heilongjiang 150000, China.

Genes & Diseases
|July 15, 2024
PubMed

Insights

Malformations of cortical development (MCD) involve abnormal brain structures, often caused by genetic variations, leading to intellectual disability and epilepsy. This review highlights the PI3K/PTEN/AKT/mTOR pathway

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Malformations of cortical development (MCD) are a spectrum of congenital brain disorders.
  • Genetic variations are a primary cause of MCD, contributing to intellectual disability and intractable epilepsy.
  • Advances in technology are improving MCD diagnosis and gene identification.

Purpose of the Study:

  • To review key events in cortical development.
  • To summarize molecular genetic studies of MCD, focusing on the PI3K/PTEN/AKT/mTOR pathway.
  • To discuss diagnostic methods, disease models, and therapeutic strategies for MCD.

Main Methods:

  • Literature review of cortical development.
  • Analysis of molecular genetic studies in MCD.
  • Focus on the PI3K/PTEN/AKT/mTOR signaling pathway.

Main Results:

  • High genetic heterogeneity in MCD presents challenges for understanding pathogenesis and drug development.
  • The PI3K/PTEN/AKT/mTOR pathway is implicated in MCD.
  • Current diagnostic and therapeutic strategies are under development.

Conclusions:

  • Understanding MCD pathogenesis is crucial for developing targeted therapies.
  • The PI3K/PTEN/AKT/mTOR pathway offers a potential target for novel MCD treatments.
  • Further research is needed to facilitate MCD diagnosis and treatment.
Keywords:
EpilepsyGene mutationGeneticsMalformations of cortical developmentPI3K/PTEN/AKT/mTOR pathway

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