Newly Discovered Disease May Improve CF Treatment

Cystic fibrosis (CF) is a genetic disorder that mainly affects the lungs and airways.1 People with CF create an overabundance of mucus and plugging and constriction of their airways. There is currently no cure for CF.2 There are treatments to support the patients and ease symptoms. Doctors are researching better treatments for CF since it is the most frequent severe inherited disorder worldwide.2

What causes CF?

Cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductor regulator (CFTR) gene. The CFTR gene is responsible for regulating how salt and water cross the cells in the mucosal membranes of the airways and the intestines.3 People with CF have a mutation in CFTR that doesn’t let enough water cross the membranes. This makes their mucus thick and gel-like.3 This thick mucus can cause the airways to plug up and put people with CF in danger of suffocation, as well as cause a host of other symptoms.

The CFTR gene is not the only gene that does this job. There are other genes and proteins that regulate salt and water movement across membranes. These are called chloride channels. Transmember membrane 16A (TMEM16A) is another chloride channel protein that regulates salt and water in the airway and intestines.3

New disease

Doctors in Germany have discovered children who have defects in both the TMEM16A and CFTR genes.2 These children had no function of TMEM16A. Doctors believe that the lack of function in the TMEM16A causes the same loss of function in the CFTR gene that causes cystic fibrosis. However, they were also surprised to find that the children in the study were not experiencing any respiratory symptoms.2

The doctors wanted to see if they could repeat this disease. They worked with another group of scientists who were able to turn off the TMEM16A and CFTR genes in mice. The mice also did not have any respiratory symptoms.2

Potential treatment implications

This discovery could lead to new treatments for people with CF. Doctors think that they may be able to turn off the TMEM16A protein in patients with CFTR mutations, which may, in turn, be able to stop the respiratory symptoms of patients with CF.2 Scientists want to develop a medication that can inhibit, or turn off, the TMEM16A protein.3 They hope that treatments targeting TMEM16A will lead to better treatments for people with cystic fibrosis.

How soon could we see a TMEM16A treatment?

Medications take time to develop. They have to be successful in animal trials and then through all four stages of human drug trials. Scientists have to prove that the benefits of a new medication outweigh any potential risks. Drug trials can be a long process and may take years to complete. Researchers may have to deal with failure at any stage. This is how researchers find new ideas and better, safer products.

Doctors also need to understand the long-term side effects of turning of TMEM16A. This protein has many other functions in the human body. If doctors turn it off, will it cause other problems that we have not yet discovered?3 Even if this discovery doesn’t lead to a new treatment, it has given scientists a new way to look at CF and ideas for better treatments.

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