Heidelberg researchers have succeeded in preventing cystic fibrosis lung disease in an animal model by spraying amiloride into the lungs of young mice. This is the first therapy to successfully attack the root cause of the widespread hereditary disease in a living organism.
When mice are given inhalation treatment with the drug in the first days of life, no thick mucus forms in the lungs and airway inflammation and chronic lung damage can be prevented. The researchers at Department of Pediatrics at Heidelberg University Hospital have demonstrated for the first time that preventative therapy of lung disease is possible for cystic fibrosis. Their study was published in the American Journal of Respiratory and Critical Care Medicine.
The most frequent genetic disease has no causal therapy thus far
Cystic fibrosis (CF) or mucosviscidosis or is the most common life-shortening genetic disease in Western Europe and North America. In Germany, some 8,000 people suffer from this disease; another five percent of the population i.e. some four million people are healthy carriers who can pass on the disease, usually without knowing.
The cause of all symptoms of cystic fibrosis are defects at a certain locations in the genetic makeup a mutation in what is called the CFTR ("Cystic Fibrosis Transmembrane Conductance Regulator" gene) leads to loss of salt and water and thus dehydration of the surfaces of the mucous membranes in the lungs, intestines, and other organs. Thick, sticky mucus forms clumps that cannot be easily cleared. This leads to chronic airway inflammation and other serious respiratory and digestive disorders. There is currently no treatment available that targets airway surface dehydration, i.e. the root cause of the disease; so far it is only possible to treat symptoms such as pneumonia, respiratory distress, and lack of oxygen.
Amiloride inhibits "hyperactive" sodium channels and prevents the mu
|Contact: Dr. Marcus Mall|
University Hospital Heidelberg