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Tuberous sclerosis complex.

Monica P Islam1, E Steve Roach1

  • 1Department of Child Neurology, Nationwide Children's Hospital, Ohio State University College of Medicine, Columbus, OH, USA.

Handbook of Clinical Neurology
|November 14, 2015
PubMed
Summary

Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs. Research explores mTOR pathway inhibitors for treating TSC complications, including tumors and other symptoms.

Keywords:
Tuberinautismepilepsyhamartinhypomelanotic maculesmTOR pathwayshagreen patchsubependymal giant cell astrocytomatubertuberous sclerosis complex

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Area of Science:

  • Genetics and Molecular Biology
  • Neurology
  • Oncology

Background:

  • Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome.
  • It results from mutations in TSC1 or TSC2 genes, affecting hamartin and tuberin proteins.
  • These proteins form a complex regulating the mammalian target of rapamycin (mTOR) pathway.

Observation:

  • TSC causes hamartomas, tumors, and altered neuronal migration.
  • Common manifestations include seizures, intellectual disability, autism, cardiac rhabdomyomas, renal angiomyolipomas, and pulmonary issues.
  • Phenotype variability is significant, with renal disease being a leading cause of death in adults.

Findings:

  • Mutations in TSC1/TSC2 disrupt the hamartin-tuberin complex, impacting mTOR signaling.
  • mTOR inhibitors are currently used for TSC-related tumors.
  • Ongoing research investigates mTOR inhibitors for broader TSC symptom management.

Implications:

  • Targeting the mTOR pathway offers therapeutic potential for various TSC complications.
  • Early identification and a multidisciplinary approach are crucial for managing TSC.
  • Further research may expand the use of mTOR inhibitors beyond tumor treatment in TSC.