Science and Research

Disease-Causing Mutations and Rearrangements in Long Non-coding RNA Gene Loci

The classic understanding of molecular disease-mechanisms is largely based on protein-centric models. During the past decade however, genetic studies have identified numerous disease-loci in the human genome that do not encode proteins. Such non-coding DNA variants increasingly gain attention in diagnostics and personalized medicine. Of particular interest are long non-coding RNA (lncRNA) genes, which generate transcripts longer than 200 nucleotides that are not translated into proteins. While most of the estimated ~20,000 lncRNAs currently remain of unknown function, a growing number of genetic studies link lncRNA gene aberrations with the development of human diseases, including diabetes, AIDS, inflammatory bowel disease, or cancer. This suggests that the protein-centric view of human diseases does not capture the full complexity of molecular patho-mechanisms, with important consequences for molecular diagnostics and therapy. This review illustrates well-documented lncRNA gene aberrations causatively linked to human diseases and discusses potential lessons for molecular disease models, diagnostics, and therapy.

  • Aznaourova, M.
  • Schmerer, N.
  • Schmeck, B.
  • Schulte, L. N.

Keywords

  • disease
  • genome-wide association study
  • long non-coding RNA
  • mutation
  • single nucleotide polymorphism
  • variation (genetic)
Publication details
DOI: 10.3389/fgene.2020.527484
Journal: Front Genet
Pages: 527484 
Work Type: Review
Location: UGMLC
Disease Area: COPD
Partner / Member: UMR
Access-Number: 33329688

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