title: [Therapeutic update in tuberous sclerosis complex: the role of mTOR pathway inhibitors].
abstract: Tuberous sclerosis complex is an autosomal dominant disease, with variable expressivity and multisystemic involvement, which is characterised by the growth of benign tumours called hamartomas. The organs that are most commonly affected are the brain, skin, kidneys, eyes, heart and lungs. Of all the children with this disease, 85% present neurological manifestations that, due to their severity, are the main cause of morbidity and mortality. The most significant neurological manifestations are epilepsy, autism spectrum disorders and mental retardation. It has been shown that in tuberous sclerosis complex the genes TSC1 and TSC2 alter the mTOR enzyme cascade, which sets off inhibition of this pathway. The possibility of resorting to treatments applied at the origin, thus inhibiting this pathway, is currently being evaluated.
authors.affiliation: Sección de Neuropediatría, Hospital Infantil Universitario Nino Jesús, Avda. Menéndez Pelayo 65, Madrid, Spain. mruiz.hnjs@salud.madrid.org
authors.forename: M Luz
authors.initials: ML
authors.lastname: Ruiz-Falcó Rojas
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001254:Astrocytoma / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics; D001927:Brain Diseases / Q000235:genetics; D001932:Brain Neoplasms / Q000235:genetics; D015195:Drug Design; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics / Q000601:surgery / Q000628:therapy; D000068338:Everolimus; D018315:Glioma, Subependymal / Q000235:genetics; D006222:Hamartoma / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007859:Learning Disabilities / Q000235:genetics / Q000517:prevention & control; D058990:Molecular Targeted Therapy; D015398:Signal Transduction / Q000187:drug effects; D020123:Sirolimus / Q000031:analogs & derivatives* / Q000494:pharmacology / Q000627:therapeutic use*; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors* / Q000502:physiology; D014402:Tuberous Sclerosis / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology / Q000523:psychology; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000502:physiology
chemical_list: D000927:Anticonvulsants; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C401859:temsirolimus; D000068338:Everolimus; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus