title: [Cystic fibrosis emerging therapies].
abstract: Cystic fibrosis is one of the most common recessively inherited monogenic disorders in the Caucasian population. The disease develops when pathogenic mutations of the CFTR gene, encoding a transmembrane conductance regulator, are present in both alleles. Cystic fibrosis is a multi-organ disease with heterozygous clinical course. High mortality of the disease is mainly due to progressive and irreversible changes in the lungs, leading to respiratory failure. Therefore, chronic obstructive pulmonary disease is the primary target in the search for effective therapeutic solutions. In recent years there has been a significant progress in the research on early diagnosis and treatment of cystic fibrosis. The newest strategies focus not only on the main symptoms of pulmonary disease (inflammation caused by bacterial infection and obstruction due to thickened mucus), but also on the correction of the cystic fibrosis cause - defective CFTR gene and its protein product. Therapeutics like VX-770 and PTC124, intended for patients with a specific genotype, have already emerged on the U.S. and European medical market. They modulate the defective CFTR protein function or act on the level of abnormal CFTR mRNA, respectively. At the same time scientists develop new solutions in the field of somatic gene therapy in order to increase the efficiency of corrected CFTR delivery to the respiratory tract cells and to maintain its expression in the target cells. In this review we discuss the progress achieved in the development of therapy that is at the stage of both preclinical and clinical phases.
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211 Warszawa, Polska, dominika.nesteruk@imid.med.pl.
authors.forename: Dominika
authors.initials: D
authors.lastname: Nesteruk
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wertheim-Tysarowska
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal