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Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways

Sarah C Borrie1, Hilde Brems1, Eric Legius1

  • 1Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.

Annual Review of Genomics and Human Genetics
|September 2, 2017
PubMed

Insights

Signaling pathways like Ras-MAPK and PI3K-AKT-mTOR are crucial for brain function and linked to neurodevelopmental disorders. Mouse models reveal insights into synaptic plasticity and potential treatments for cognitive and behavioral symptoms.

Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Ras-MAPK and PI3K-AKT-mTOR pathways, initially known for cancer, are vital for synaptic plasticity and behavior.
  • Mutations in these pathways cause neurodevelopmental disorders with phenotypes like cognitive dysfunction and autism.
  • Dysregulation of protein synthesis and translation also contributes to conditions such as fragile X syndrome and autism.

Purpose of the Study:

  • To review how mouse models illuminate synaptic plasticity mechanisms in disorders of Ras-MAPK, PI3K-AKT-mTOR, and translation regulatory pathways.
  • To discuss the validity of these mouse models for studying human neurological conditions.
  • To summarize progress in clinical trials targeting cognitive and behavioral symptoms.

Main Methods:

  • Review of scientific literature on mouse models for Ras-MAPK, PI3K-AKT-mTOR, and translation regulatory pathway disorders.
  • Analysis of studies investigating synaptic plasticity and behavior in these models.
  • Examination of clinical trial data for therapeutic interventions.

Main Results:

  • Studies using mouse models have revealed critical roles of these signaling and translation pathways in synaptic plasticity.
  • These models demonstrate face validity for neurological phenotypes observed in human disorders.
  • Progress is being made in clinical trials aimed at improving cognitive and behavioral outcomes.

Conclusions:

  • Mouse models are valuable tools for understanding the molecular basis of neurodevelopmental disorders.
  • Targeting Ras-MAPK, PI3K-AKT-mTOR, and translation pathways holds promise for treating cognitive and behavioral deficits.
  • Further research and clinical trials are essential for developing effective therapies.
Keywords:
FXSRasopathyautismlearning disabilitiesmTORsynaptic plasticity

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