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

ABSTRACT:

Background

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.

Results

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.

Conclusions

This is the first combined transcriptomic and proteom

SUBMITTER: Santos L 

PROVIDER: S-EPMC9912517 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature