Abstract
The aim of this review article is to introduce the reader to the state-of-the-art of the contribution that proteomics and metabolomics sciences are currently providing for cystic fibrosis (CF) research: from the understanding of cystic fibrosis transmembrane conductance regulator (CFTR) biology to biomarker discovery for CF diagnosis. Our work particularly focuses on CFTR post-translational modifications and their role in cellular trafficking as well as on studies that allowed the identification of CFTR molecular interactors. We also show how metabolomics is currently helping biomarker discovery in CF. The most recent advances in these fields are covered by this review, as well as some considerations on possible future scenarios for new applications.
Highlights
Cystic fibrosis (CF) is an autosomal recessive disorder that affects 1 out of 2500 newborns among Caucasians and it is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein [1]
The aim of this review article is to introduce the reader to the state-of-the-art of the contribution that proteomics and metabolomics sciences are currently providing for cystic fibrosis (CF) research: from the understanding of cystic fibrosis transmembrane conductance regulator (CFTR) biology to biomarker discovery for CF diagnosis
We summarized some of the fields of applications of metabolomics and proteomics to CF research
Summary
Cystic fibrosis (CF) is an autosomal recessive disorder that affects 1 out of 2500 newborns among Caucasians and it is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein [1]. Omics represent a set of biomolecular disciplines, rapidly developed in the last 20 years, to investigate biological systems using large-scale molecular-level measurements, from DNA up to metabolic reactions These techniques, together with the development of computational tools, allowed to couple high-throughput sample analysis with a global overview of the interactions established between different molecular levels within the cell. While the CF-causing mutations on the CFTR gene are known, the resulting disease phenotypes at both metabolomic and proteomic levels are far from being fully elucidated. For these reasons, metabolic and proteomics studies were conducted to provide insight into the mechanisms by which CFTR mutations lead to disease effects.
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