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Pathological mTOR mutations impact cortical development.

Bartosz Tarkowski1, Kinga Kuchcinska1, Magdalena Blazejczyk1

  • 1International Institute of Molecular and Cell Biology, Warsaw, Poland.

Human Molecular Genetics
|February 22, 2019
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Summary
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Mosaic mutations in mechanistic target of rapamycin (mTOR) impact brain development. Increased mTORC1 signaling potency from these mutations differentially disrupts neuronal progenitor migration, affecting cortical formation.

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Mosaic mutations in mechanistic target of rapamycin (mTOR) are linked to cortical malformations like hemimegalencephaly (HME) and focal cortical dysplasia (FCD).
  • While these mutations activate mTOR signaling, the comparative effects of different mutations on brain development and their correlation with signaling strength remain unclear.

Purpose of the Study:

  • To investigate the impact of various mTOR mutations on neuronal progenitor migration and cortical development.
  • To determine if the degree of mTORC1 signaling enhancement by different mutations correlates with observed developmental disruptions.

Main Methods:

  • Assessed mTORC1 pathway activity in cell lines and rat primary neurons overexpressing different mTOR mutants.
  • Introduced potent mTOR mutants into developing mouse brains and analyzed electroporated cell morphology and migration using immunofluorescent staining.

Main Results:

  • Observed differential inhibition of neuronal progenitor cortical migration, correlating with the degree of mTORC1 signaling enhancement by the mutants.
  • A potent quadruple mutant significantly inhibited progenitor entry into the cortical plate.
  • Less potent single-point mutants allowed entry but impaired migration to upper layers and caused soma enlargement.

Conclusions:

  • The potency of mTOR mutations in activating the mTORC1 pathway correlates with the disruption of cortical progenitor migration.
  • These findings provide insights into the mechanisms underlying mTOR-related cortical malformations.