Cystic fibrosis

Cystic fibrosis, also known as mucoviscidosis, is the most frequent severe autosomal recessive genetic disorder in the German-speaking world. In Central Europe, 1 in about 2500 newborns is found to be affected by CF. These children have inherited a defective copy of the mucoviscidosis gene CFTR (cystic fibrosis transmembrane conductance regulator) from both parents.

Cystic fibrosis is a multi-organ disease: all exocrine glands in the body which express the mucoviscidosis gene CFTR are affected. In a typical course of disease, the main symptoms occur already in the earliest stages of childhood. Characteric features are recurrent airway disease, chronic colonization with opportunistic pathogens and a steadily progressive worsening of lung function, which shortens the life expectancy of the patient. Further development of the symptomatic therapies and standardized CF treatment have, in the meantime, increased the average survival time to about 40 years.

The mucoviscidosis gene CFTR codes for a cAMP-dependent chloride and bicarbonate channel in the epithelial cells, which form the outermost cell layer in the lung, the so-called airway epithelium. The ion channel CFTR, is integrated in a multi-layer molecular network of the cell and thus has a regulatory influence on the activity of other ion channels like the sodium channel ENaC.

Innovations in this area include:

  • the development of animal studies for CF,
  • active preclinical to early clinical development of therapeutic components to combat the basic defects of CF,
  • new insights and knowledge regarding the role of modifying genes and bacterial pathogenetic factors.
    The aim of the researchers is to significantly improve the treatment of CF and the quality of life of the affected patients.

The aim of the researchers is to significantly improve the treatment of CF and the quality of life of the affected patients.

Research at BREATH

The clinical research group „Molecular Pathology of Cystic Fibrosis“ at the MHH has published more than 150 research papers on basic, translational and clinical cystic fibrosis (CF) research over the past 20 years.

Substantial successes of this research have been the discovery of numerous CF-causative mutations in the CFTR genes, the description of the mutated CFTR phenotypes in vitro, ex vivo and in vivo and the identification of the genetic modifiers of the CF disorder within the European Cystic Fibrosis Twin and Sibling Study. The latest studies focus on the genetic and phenotypic adaptation of Pseudomonas aeruginosa from CF lungs.