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Tuberous sclerosis complex.

Kellen Winden1, E Martina Bebin2, Shafali Jeste3

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Tuberous sclerosis complex (TSC) is a rare genetic disorder. Rapalogues treat TSC manifestations, but TAND and refractory epilepsy remain challenging, highlighting an unmet therapeutic need.

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Area of Science:

  • Genetics
  • Cell Biology
  • Neurology

Background:

  • Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by TSC1 or TSC2 variants.
  • It leads to benign tumors (hamartomas) in multiple organs and severe neurological issues like epilepsy and TAND.
  • The TSC1/TSC2 complex regulates the mTOR signaling pathway, a key factor in TSC pathogenesis.

Purpose of the Study:

  • To review the current understanding of TSC pathogenesis.
  • To discuss the clinical management of TSC, focusing on mTOR inhibitors.
  • To identify unmet needs in TSC treatment, particularly for TAND and refractory epilepsy.

Main Methods:

  • Literature review of TSC pathogenesis and treatment.
  • Analysis of the role of the TSC1/TSC2-mTOR pathway.
  • Evaluation of current therapeutic strategies and their limitations.

Main Results:

  • Rapamycin and its analogues (rapalogues) are effective for several TSC manifestations, including tumors and seizures.
  • These treatments target the mTOR pathway, crucial in TSC.
  • Despite progress, significant challenges remain in treating TSC-associated neuropsychiatric disorders (TAND) and refractory epilepsy.

Conclusions:

  • The TSC1/TSC2-mTOR pathway is central to TSC and a target for rapalogue therapy.
  • Approved rapalogue treatments exist for specific TSC symptoms.
  • Effective treatments for TAND and refractory epilepsy in TSC patients are still needed.