Cystic Fibrosis and New Discoveries

Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and digestive system.”Inherited” means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease—one from each parent. The parents likely don’t have the disease themselves.These genes cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

There are more than 70,000 people worldwide being affected by Cystic fibrosis (CF), most of whom are children and young adults. There is no cure for the disease. But scientists recently made some important discoveries in CF treatment.

Vitamin D may help patients with CF

In the late 2010, researchers from Children’s Hospital of Pittsburgh of UPMC, the University of Pittsburgh School of Medicine and Louisiana State University School of Medicine published the result from their study that vitamin D may be an effective therapy to treat and even prevent allergy to a common mold that can cause severe complications for patients with cystic fibrosis and asthma.

They detected that adding vitamin D substantially reduced the production of the protein driving the allergic response and also increased production of the protein that promotes tolerance. From the important finding, the scientists had a strong rationale for a clinical trial of vitamin D to determine whether it can prevent or treat Allergic Bronchopulmonary Aspergillosis (ABPA) in patients with cystic fibrosis.

Root cause of CF revealed

Another new study of the researcher at the University of Iowa Carver College of Medicine, in Iowa city, the US discovered the secret life of the defective protein that causes cystic fibrosis. Prior studies showed that CFTR protein regulates the acid-alkali balance in cells but they did not reveal what turns that ability on and off. This study detected it.

The CFTR gene and its associated protein were only discovered 40 years ago but early detection and existing therapies such as antibiotics to treat lung infections, chest physiotherapy to loosen the mucus, and enzyme supplements to aid digestion only ease symptoms.

Scientists already knew that CFTR regulates the transport of these molecules by adjusting the pH or acid-alkali balance inside cells, a process that is important for cells to function properly. But they did not know how: how did the protein detect changes in pH, how did it “know” when to change the control one way or the other?

Dr Jeng-Haur Chen, the researcher of this study has found that it was the pH inside cells that controlled CFTR directly. The pH level inside the cell decides the power level at the gate, and this in trun controls the transport of salt and bicarbonate. But if a cell needs to cut back on energy, it can also use pH to tell enzymes when to stop CFTR activity.

Researchers hope by targeting the root cause of the disease, rather than the symptoms, new drug therapies for CF might stop disease progression and prevent the decline in health of individuals living with CF.


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