Single-Cell RNA Sequencing Reveals New Basic and Translational Insights in the Cystic Fibrosis Lung

Am J Respir Cell Mol Biol. 2023 Feb;68(2):131-139. doi: 10.1165/rcmb.2022-0038TR.

Abstract

Cystic fibrosis (CF) is a multisystemic, autosomal recessive disorder caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, with the majority of morbidity and mortality extending from lung disease. Single-cell RNA sequencing (scRNA-seq) has been leveraged in the lung and elsewhere in the body to articulate discrete cell populations, describing cell types, states, and lineages as well as their roles in health and disease. In this translational review, we provide an overview of the current applications of scRNA-seq to the study of the normal and CF lungs, allowing the beginning of a new cellular and molecular narrative of CF lung disease, and we highlight some of the future opportunities to further leverage scRNA-seq and complementary single-cell technologies in the study of CF as we bridge from scientific understanding to clinical application.

Keywords: CFTR; cystic fibrosis; single-cell RNA sequencing; single-cell spatial transcriptomics; single-cell technologies.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • Cystic Fibrosis* / genetics
  • Cystic Fibrosis* / metabolism
  • Humans
  • Lung / metabolism
  • Mutation / genetics
  • Protein Processing, Post-Translational
  • Sequence Analysis, RNA

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator