title: mTOR, translational control and human disease.
abstract: Many human diseases occur when the precise regulation of cell growth (cell mass/size) and proliferation (rates of cell division) is compromised. This review highlights those human disorders that occur as a result of inappropriate cellular signal transduction through the mammalian target of rapamycin (mTOR), a major pathway that coordinates proper cell growth and proliferation by regulating ribosomal biogenesis and protein translation. Recent studies reveal that the tuberous sclerosis complex (TSC)-1/2, PTEN, and LKB1 tumor suppressor proteins tightly control mTOR. Loss of these tumor suppressors leads to an array of hamartoma syndromes as a result of heightened mTOR signaling. Since mTOR plays a pivotal role in maintaining proper cell size and growth, dysregulation of mTOR signaling results in these benign tumor syndromes and an array of other human disorders.
authors.affiliation: Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Tee
authors.forename: John
authors.initials: J
authors.lastname: Blenis
mesh_terms: D049109:Cell Proliferation; D004194:Disease / Q000209:etiology*; D006222:Hamartoma / Q000209:etiology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology; D009389:Neovascularization, Pathologic / Q000209:etiology; D014176:Protein Biosynthesis; D011494:Protein Kinases / Q000378:metabolism*; D015398:Signal Transduction; D058570:TOR Serine-Threonine Kinases
chemical_list: D011494:Protein Kinases; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases