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Cloning a profibrotic stem cell variant in idiopathic pulmonary fibrosis
Journal article   Open access   Peer reviewed

Cloning a profibrotic stem cell variant in idiopathic pulmonary fibrosis

Shan Wang, Wei Rao, Ashley Hoffman, Jennifer Lin, Justin Li, Tao Lin, Audrey-Ann Liew, Matthew Vincent, Tinne C J Mertens, Harry Karmouty-Quintana, …
Science translational medicine, Vol.15(693), eabp9528
04/26/2023
DOI: 10.1126/scitranslmed.abp9528
PMCID: PMC10794039
PMID: 37099633
url
https://pmc.ncbi.nlm.nih.gov/articles/PMC10794039/pdf/nihms-1951862.pdfView
Open Access

Abstract

Idiopathic pulmonary fibrosis (IPF) is a progressive, irreversible, and rapidly fatal interstitial lung disease marked by the replacement of lung alveoli with dense fibrotic matrices. Although the mechanisms initiating IPF remain unclear, rare and common alleles of genes expressed in lung epithelia, combined with aging, contribute to the risk for this condition. Consistently, single-cell RNA sequencing (scRNA-seq) studies have identified lung basal cell heterogeneity in IPF that might be pathogenic. We used single-cell cloning technologies to generate "libraries" of basal stem cells from the distal lungs of 16 patients with IPF and 10 controls. We identified a major stem cell variant that was distinguished from normal stem cells by its ability to transform normal lung fibroblasts into pathogenic myofibroblasts in vitro and to activate and recruit myofibroblasts in clonal xenografts. This profibrotic stem cell variant, which was shown to preexist in low quantities in normal and even fetal lungs, expressed a broad network of genes implicated in organ fibrosis and showed overlap in gene expression with abnormal epithelial signatures identified in previously published scRNA-seq studies of IPF. Drug screens highlighted specific vulnerabilities of this profibrotic variant to inhibitors of epidermal growth factor and mammalian target of rapamycin signaling as prospective therapeutic targets. This profibrotic stem cell variant in IPF was distinct from recently identified profibrotic stem cell variants in chronic obstructive pulmonary disease and may extend the notion that inappropriate accrual of minor and preexisting stem cell variants contributes to chronic lung conditions.
Cloning, Molecular Fibroblasts - pathology Humans Idiopathic Pulmonary Fibrosis - genetics Idiopathic Pulmonary Fibrosis - pathology Lung - pathology Myofibroblasts - pathology Stem Cells - metabolism

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