title: Proteomic biomarker discovery for the monogenic disease cystic fibrosis.
abstract: Proteomics was initially viewed as a promising new scientific discipline to study complex disorders such as polygenic, infectious and environment-related diseases. However, the first attempts to understand a monogenic disease such as cystic fibrosis (CF) by proteomics-based approaches have proved quite rewarding. In CF, the impairment of a unique protein, the CF transmembrane conductance regulator, does not completely explain the complex and variable CF clinical phenotype. The great advances in our knowledge about the molecular and cellular consequences of such impairment have not been sufficient to be translated into effective treatments, and CF patients are still dying due to chronic progressive lung dysfunction. The progression of proteomics application in CF will certainly unravel new proteins that could be useful as biomarkers either to elucidate CF basic mechanisms and to better monitor the disease progression, or to promote the development of novel therapeutic strategies against CF. This review will summarize the recent technological advances in proteomics and the first results of its application to address the most important issues in the CF field.
authors.affiliation: Instituto Nacional de Saúde Dr Ricardo Jorge, Laboratório de Proteómica, Centro de Genética Humana, Lisboa, Portugal. deborah.penque@insa.min-saude.pt
authors.forename: Deborah
authors.initials: D
authors.lastname: Penque
mesh_terms: D015415:Biomarkers; D003550:Cystic Fibrosis / Q000175:diagnosis*; D006801:Humans; D020543:Proteome / Q000032:analysis; D040901:Proteomics / Q000379:methods*
chemical_list: D015415:Biomarkers; D020543:Proteome