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The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
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[Tuberous sclerosis complex: A review].

P Pfirmann1, C Combe1, C Rigothier1

  • 1Service de néphrologie, transplantation, dialyse et aphérèses, hôpital Pellegrin, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France; Inserm U1026, BioTis, université de Bordeaux, 33076 Bordeaux, France.

La Revue De Medecine Interne
|April 10, 2021
PubMed
Summary

Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in TSC1 or TSC2 genes, leading to uncontrolled cell growth and tumors. mTOR inhibitors are now approved for treating various TSC-related conditions like tumors and epilepsy.

Keywords:
AngiomyolipomaAngiomyolipomesEpilepsyGeneticGénétiqueInhibiteurs de mTORMTOR inhibitor.Sclérose tubéreuse de BournevilleTuberous sclerosis complexépilepsie

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Area of Science:

  • Genetics
  • Oncology
  • Neurology

Background:

  • Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder resulting from loss-of-function mutations in TSC1 or TSC2 genes.
  • These mutations disrupt hamartin and tuberin protein function, leading to a hyperactive mammalian target of rapamycin (mTOR) signaling pathway.
  • TSC manifests in multiple organs, causing tumors, seizures, and neuropsychiatric disorders, including autism spectrum disorder and cognitive disability.

Purpose of the Study:

  • To summarize the key aspects of Tuberous Sclerosis Complex (TSC), including its genetic basis, clinical manifestations, and therapeutic advancements.
  • To highlight the role of the mTOR signaling pathway in TSC pathogenesis.
  • To discuss the current guidelines and treatment strategies for TSC.

Main Methods:

  • Review of existing literature and clinical guidelines regarding Tuberous Sclerosis Complex (TSC).
  • Analysis of the genetic mutations (TSC1, TSC2) and their impact on protein function (hamartin, tuberin) and cellular pathways (mTOR).
  • Examination of clinical features, diagnostic criteria, and management strategies, including the efficacy of mTOR inhibitors.

Main Results:

  • Loss-of-function mutations in TSC1 or TSC2 genes lead to constitutive activation of the mTOR signaling pathway.
  • TSC is associated with diverse clinical features, including tumors in the brain, skin, heart, lungs, and kidneys, as well as seizures and neuropsychiatric disorders.
  • Randomized controlled trials have supported the use of mTOR inhibitors for treating specific TSC-related conditions.

Conclusions:

  • Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder driven by dysregulated mTOR signaling.
  • Early diagnosis, surveillance, and management are crucial for improving patient outcomes.
  • mTOR inhibitors represent a significant therapeutic advancement for managing various TSC-associated manifestations.