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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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RNA-seq03:21

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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Purifying the Impure: Sequencing Metagenomes and Metatranscriptomes from Complex Animal-associated Samples
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Single-cell RNAseq identifies persistent epithelial and immune dysfunction in PwCF by mitigating inter-individual

Thaddeus Cybulski1, Marc A Sala1, Trevor Nicholson2

  • 1Division of Pulmonary and Critical Care, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|March 10, 2026
PubMed
Summary
This summary is machine-generated.

Single-cell transcriptomics reveals cell-type-specific gene expression changes in cystic fibrosis nasal epithelium, highlighting tissue heterogeneity. This approach complements bulk RNA sequencing for a deeper understanding of CF disease mechanisms.

Keywords:
ChaperomeTranscriptomicsnasalscRNAseq

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Area of Science:

  • Respiratory Medicine
  • Genomics
  • Cell Biology

Background:

  • Nasal epithelium (NE) serves as a model for lower airway epithelium in cystic fibrosis (CF).
  • NE comprises diverse cell types, and disease-related changes can be cell-type specific.
  • Understanding tissue heterogeneity is crucial for accurately studying CF.

Purpose of the Study:

  • To investigate cell-type-specific gene expression and heterogeneity in CF nasal epithelium using single-cell transcriptomics.
  • To compare cell-type abundance between people with CF (PwCF) and healthy volunteers (HV).
  • To evaluate the correlation between single-cell and bulk RNA sequencing data for cell-type abundance.

Main Methods:

  • Single-cell RNA sequencing (scRNAseq) was performed on nasal curettage samples from PwCF and HVs.
  • Differential gene expression and cell-type abundance were analyzed.
  • Cell-type abundance from scRNAseq was compared with deconvolution analysis of paired bulk RNA sequencing data.

Main Results:

  • Cell-type-specific differentially expressed genes were identified in CF NE, including those related to ubiquitination and inflammation.
  • Chaperome expression was downregulated in epithelial cells and macrophages in CF.
  • No significant differences in cell-type abundance were found between PwCF and HVs, with notable inter-individual heterogeneity.
  • Variable correlations were observed between cell-type abundances estimated from bulk and single-cell RNA sequencing.

Conclusions:

  • NE exhibits significant cell-type heterogeneity in both healthy individuals and PwCF.
  • Single-cell transcriptomics provides valuable insights complementing bulk RNA sequencing for NE studies.
  • Downregulation of chaperome expression in CF may be influenced by endogenous and exogenous factors, potentially linked to CFTR expression levels.