Translation matters: protein synthesis defects in inherited disease

Nat Rev Genet. 2007 Sep;8(9):711-23. doi: 10.1038/nrg2142. Epub 2007 Jul 31.


The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity. Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition to their roles in translation. Given the numerous proteins involved in mRNA translation, it is likely that further inherited diseases will turn out to be caused by mutations in genes that are involved in this complex process.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • 5' Untranslated Regions / genetics
  • Animals
  • Gene Expression Regulation
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism*
  • Humans
  • Mitochondria / genetics
  • Models, Biological
  • Mutation / physiology
  • Peptide Elongation Factors / genetics
  • Peptide Initiation Factors / genetics
  • Peptide Termination Factors / genetics
  • Protein Biosynthesis / genetics*
  • RNA, Transfer / genetics
  • Ribosomes / genetics


  • 5' Untranslated Regions
  • Peptide Elongation Factors
  • Peptide Initiation Factors
  • Peptide Termination Factors
  • RNA, Transfer