Diverse diseases from a ubiquitous process: the ribosomopathy paradox

FEBS Lett. 2014 May 2;588(9):1491-500. doi: 10.1016/j.febslet.2014.03.024. Epub 2014 Mar 19.


Collectively, the ribosomopathies are caused by defects in ribosome biogenesis. Although these disorders encompass deficiencies in a ubiquitous and fundamental process, the clinical manifestations are extremely variable and typically display tissue specificity. Research into this paradox has offered fascinating new insights into the role of the ribosome in the regulation of mRNA translation, cell cycle control, and signaling pathways involving TP53, MYC and mTOR. Several common features of ribosomopathies such as small stature, cancer predisposition, and hematological defects, point to how these diverse diseases may be related at a molecular level.

Keywords: IRES elements; Ribosome biogenesis; Ribosomopathy; Tissue specificity.

Publication types

  • Review

MeSH terms

  • Animals
  • Binding Sites
  • Genes, myc
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism
  • Humans
  • Mutation
  • Organ Specificity
  • Protein Biosynthesis
  • Ribosomes / genetics*
  • Ribosomes / metabolism
  • TOR Serine-Threonine Kinases / metabolism
  • Tumor Suppressor Protein p53 / metabolism


  • Tumor Suppressor Protein p53
  • TOR Serine-Threonine Kinases