Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells

The phenotypic heterogeneity observed in Cystic Fibrosis (CF) patients suggests the involvement of other genes, besides CFTR. Here, we combined transcriptome and proteome analysis to understand the global gene expression patterns associated with five prototypical CFTR mutations. Evaluation of differ...

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Bibliographic Details
Published in:Cell & bioscience 2023-02, Vol.13 (1), p.26-26, Article 26
Main Authors: Santos, Lúcia, Nascimento, Rui, Duarte, Aires, Railean, Violeta, Amaral, Margarida D, Harrison, Patrick T, Gama-Carvalho, Margarida, Farinha, Carlos M
Format: Article
Language:English
Subjects:
Cells
Cystic fibrosis
Disease signatures
Dithiothreitol
Gene expression
Genes
Genetic aspects
Genetic research
Genomes
Isogenic cell lines
Mutation
Pathophysiology
Phenotypes
Proteins
Proteomes
Proteomics
Therapeutic targets
Transcriptomes
Transcriptomics
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Summary:The phenotypic heterogeneity observed in Cystic Fibrosis (CF) patients suggests the involvement of other genes, besides CFTR. Here, we combined transcriptome and proteome analysis to understand the global gene expression patterns associated with five prototypical CFTR mutations. Evaluation of differentially expressed genes and proteins unveiled common and mutation-specific changes revealing functional signatures that are much more associated with the specific molecular defects associated with each mutation than to the CFTR loss-of-function phenotype. The combination of both datasets revealed that mutation-specific detected translated-transcripts (Dtt) have a high level of consistency. This is the first combined transcriptomic and proteomic study focusing on prototypical CFTR mutations. Analysis of Dtt provides novel insight into the pathophysiology of CF, and the mechanisms through which each mutation class causes disease and will likely contribute to the identification of new therapeutic targets and/or biomarkers for CF.
ISSN:2045-3701
2045-3701
DOI:10.1186/s13578-023-00975-y