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Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components

Anurag Saxena1, Julian R Sampson1

  • 1Institute of Medical Genetics, Cardiff University School of Medicine, Heath Park, Cardiff CF14 4XN, UK.

Seminars in Cell & Developmental Biology
|September 30, 2014
PubMed

Insights

Rare inherited disorders linked to the mammalian target of rapamycin (mTOR) pathway mutations cause tumors and developmental issues. Inhibiting mTOR complex 1 (mTORC1) shows promise for treating these conditions.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pharmacology

Background:

  • Mutations in genes encoding upstream components of the mammalian target of rapamycin (mTOR) pathway cause rare inherited and developmental disorders.
  • These disorders share overlapping clinical features, including tumor predisposition, localized overgrowth, and brain abnormalities.

Purpose of the Study:

  • To review inherited and developmental disorders associated with mTOR pathway mutations.
  • To discuss recent therapeutic advancements using mTOR complex 1 (mTORC1) inhibition.

Main Methods:

  • Literature review of genetic disorders affecting the mTOR pathway.
  • Analysis of clinical features and therapeutic strategies involving mTORC1 inhibitors.

Main Results:

  • Hyperactivation of mTORC1 signaling is implicated in the pathogenesis of these disorders.
  • Rapamycin and its derivatives are potential therapeutic agents.

Conclusions:

  • mTORC1 inhibition represents a promising therapeutic avenue for rare inherited and developmental disorders.
  • Further research into mTORC1-targeted therapies is warranted for these complex conditions.
Keywords:
EverolimusRapamycinSirolimusmTORmTORC1mTORC2

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