mTOR, translational control and human disease

Semin Cell Dev Biol. 2005 Feb;16(1):29-37. doi: 10.1016/j.semcdb.2004.11.005. Epub 2004 Dec 31.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Cell Proliferation
  • Disease / etiology*
  • Hamartoma / etiology
  • Humans
  • Hypertrophy, Left Ventricular / etiology
  • Neovascularization, Pathologic / etiology
  • Protein Biosynthesis*
  • Protein Kinases / metabolism*
  • Signal Transduction*
  • TOR Serine-Threonine Kinases


  • Protein Kinases
  • MTOR protein, human
  • TOR Serine-Threonine Kinases