Role of tRNA modifications in human diseases

Trends Mol Med. 2014 Jun;20(6):306-14. doi: 10.1016/j.molmed.2014.01.008. Epub 2014 Feb 25.


Transfer RNAs (tRNAs) are key for efficient and accurate protein translation. To be fully active, tRNAs need to be heavily modified post-transcriptionally. Growing evidence indicates that tRNA modifications and the enzymes catalyzing such modifications may play important roles in complex human pathologies. Here, we have compiled current knowledge that directly link tRNA modifications to human diseases such as cancer, type 2 diabetes (T2D), neurological disorders, and mitochondrial-linked disorders. The molecular mechanisms behind these connections remain, for the most part, unknown. As we progress towards the understanding of the roles played by hypomodified tRNAs in human disease, novel areas of therapeutic intervention may be discovered.

Keywords: cancer; human disease; neurological disorders; tRNA; tRNA modifications.

Publication types

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

MeSH terms

  • Diabetes Mellitus, Type 2 / genetics*
  • Humans
  • Mitochondrial Diseases / genetics
  • Molecular Targeted Therapy
  • Neoplasms / genetics*
  • Nervous System Diseases / genetics*
  • RNA, Transfer / chemistry*
  • RNA, Transfer / physiology*


  • RNA, Transfer