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Metabolic changes in mTOR pathway-associated cortical malformation.

Aditi Biswas1,2, Philip H Iffland3

  • 1Department of Psychiatry, University of Maryland School of Medicine, Baltimore, MD, United States.

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|March 6, 2026
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Summary
This summary is machine-generated.

Malformations of cortical development (MCD) linked to mTOR gene mutations disrupt brain metabolism. This review explores metabolic changes in mTORopathies, offering potential therapeutic targets for epilepsy, autism, and intellectual disability.

Keywords:
brain developmentdevelopmental delayepilepsyintellectual disabilitymetabolismneurodevelopmental disordersseizures

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Metabolic Disorders

Background:

  • Malformations of cortical development (MCD) are a leading cause of epilepsy, autism spectrum disorder (ASD), and intellectual disability (ID).
  • The heterogeneity of MCD subtypes has hindered the identification of unifying mechanistic etiologies.
  • Dysfunctional brain metabolism is increasingly recognized as a potential convergent mechanism across various neurodevelopmental disorders.

Purpose of the Study:

  • To comprehensively review metabolic alterations in MCD associated with mTOR pathway gene mutations (mTORopathies), the most common cause of MCD.
  • To identify key cellular and molecular metabolic pathways involved in MCD pathogenesis during prenatal development.
  • To explore how these metabolic dysfunctions may contribute to common mTORopathy phenotypes and persistent abnormal brain activity.

Main Methods:

  • Literature review focusing on studies investigating brain metabolism in mTORopathies.
  • Analysis of findings related to macromolecule processing and mitochondrial metabolism in MCD.
  • Discussion of cellular and molecular metabolic pathways implicated in mTORopathies.

Main Results:

  • mTORopathies are characterized by dysfunctional brain metabolism, including aberrant macromolecule processing.
  • Mitochondrial metabolism is significantly altered in MCD associated with mTOR pathway gene mutations.
  • Specific metabolic pathways are identified as crucial for in utero MCD development and sustained abnormal brain activity.

Conclusions:

  • Disrupted brain metabolism, particularly involving macromolecule and mitochondrial processes, is a key feature of mTORopathies.
  • Understanding these metabolic pathways offers potential therapeutic avenues for conditions like epilepsy, ASD, and ID.
  • Targeting metabolic dysfunctions may provide a unifying therapeutic strategy for diverse mTORopathy phenotypes.