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Transcriptional analysis of cystic fibrosis airways at single-cell resolution reveals altered epithelial cell states and composition
Journal article   Peer reviewed

Transcriptional analysis of cystic fibrosis airways at single-cell resolution reveals altered epithelial cell states and composition

Gianni Carraro, Justin Langerman, Shan Sabri, Zareeb Lorenzana, Arunima Purkayastha, Guangzhu Zhang, Bindu Konda, Cody J Aros, Ben A Calvert, Aleks Szymaniak, …
Nature medicine, Vol.27(5), pp.806-814
05/2021
DOI: 10.1038/s41591-021-01332-7
PMCID: PMC9009537
PMID: 33958799
url
https://www.ncbi.nlm.nih.gov/pmc/articles/9009537View
Open Access

Abstract

Cystic fibrosis (CF) is a lethal autosomal recessive disorder that afflicts more than 70,000 people. People with CF experience multi-organ dysfunction resulting from aberrant electrolyte transport across polarized epithelia due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF-related lung disease is by far the most important determinant of morbidity and mortality. Here we report results from a multi-institute consortium in which single-cell transcriptomics were applied to define disease-related changes by comparing the proximal airway of CF donors (n = 19) undergoing transplantation for end-stage lung disease with that of previously healthy lung donors (n = 19). Disease-dependent differences observed include an overabundance of epithelial cells transitioning to specialized ciliated and secretory cell subsets coupled with an unexpected decrease in cycling basal cells. Our study yields a molecular atlas of the proximal airway epithelium that will provide insights for the development of new targeted therapies for CF airway disease.
Cell Differentiation - genetics Cilia - metabolism Cystic Fibrosis - genetics Cystic Fibrosis - pathology Cystic Fibrosis Transmembrane Conductance Regulator - biosynthesis Cystic Fibrosis Transmembrane Conductance Regulator - genetics Epithelial Cells - cytology Epithelial Cells - pathology Gene Expression Profiling Humans Lung - pathology Respiratory Mucosa - pathology Single-Cell Analysis - methods Transcriptome - genetics

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