mRNA transcript diversity creates new opportunities for pharmacological intervention

Mol Pharmacol. 2012 May;81(5):620-30. doi: 10.1124/mol.111.076604. Epub 2012 Feb 7.

Abstract

Most protein coding genes generate multiple RNA transcripts through alternative splicing, variable 3' and 5'UTRs, and RNA editing. Although drug design typically targets the main transcript, alternative transcripts can have profound physiological effects, encoding proteins with distinct functions or regulatory properties. Formation of these alternative transcripts is tissue-selective and context-dependent, creating opportunities for more effective and targeted therapies with reduced adverse effects. Moreover, genetic variation can tilt the balance of alternative versus constitutive transcripts or generate aberrant transcripts that contribute to disease risk. In addition, environmental factors and drugs modulate RNA splicing, affording new opportunities for the treatment of splicing disorders. For example, therapies targeting specific mRNA transcripts with splice-site-directed oligonucleotides that correct aberrant splicing are already in clinical trials for genetic disorders such as Duchenne muscular dystrophy. High-throughput sequencing technologies facilitate discovery of novel RNA transcripts and protein isoforms, applications ranging from neuromuscular disorders to cancer. Consideration of a gene's transcript diversity should become an integral part of drug design, development, and therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Calcium Channels, L-Type / genetics
  • Drug Design*
  • Drug Discovery
  • Drug Evaluation, Preclinical
  • Genetic Variation*
  • Glucuronosyltransferase / genetics
  • Humans
  • Neoplasms / therapy
  • Neuromuscular Diseases / therapy
  • RNA Splicing
  • RNA, Messenger / genetics*
  • Receptors, Dopamine D2 / genetics
  • Receptors, Opioid, mu / genetics
  • Transcriptome*

Substances

  • CACNA1C protein, human
  • Calcium Channels, L-Type
  • OPRM1 protein, human
  • RNA, Messenger
  • Receptors, Dopamine D2
  • Receptors, Opioid, mu
  • UGT1A1 enzyme
  • Glucuronosyltransferase