PLoS Gene: Studies have shown that cystic fibrosis is two types of diseases

A new study by the multi-center team at the University of Pittsburgh School of Medicine suggests that cystic fibrosis (CF) is actually two different diseases, one affecting multiple organs including the lungs and one without affecting the lungs. The study, published in the journal PLOS Genetics, revealed that nine of the genetic variants associated with cystic fibrosis can cause pancreatitis, sinusitis, and male infertility without harming the lungs.

CF patients inherit a severely mutated copy of the CFTR gene from both parents, and CFTR generates proteins that make up the channel to transport chloride molecules in and out of the cell. Researcher David Whitcomb, MD, says that no functional CFTR channel can cause problems, such as Chronic lung obstruction associated with CF.

Although there are other types of mutations in the CFTR gene, these are considered harmless because they do not cause lung problems, Dr. Whitcomb said: "We are investigating whether these mutations may cause disorders in the pancreas and other organs that use CFTR channels.

Dr. Min Goo Lee, MD, Seoul, Korea, carefully tested CFTR in a pancreatic cell model and determined that the intracellular molecular switch WINK1 causes the CFTR channel to secrete bicarbonate rather than chlorine. Pancreatic cells use CFTR to secrete bicarbonate to neutralize gastric acid. Dr. Whitcomb said: If the above process does not occur, gastric acid can cause inflammation and cyst formation.

The team tested nine CFTR gene variants associated with pancreatitis in nearly 1,000 disease patients and a significant number of healthy volunteers. They also learned that each variant could damage the WINK1 switch to prevent CFTR from becoming a bicarbonate secretion channel.
Co-author Dr. Ivet Bahar established a computer model of the CFTR protein structure and determined that all nine variants caused changes in the bicarbonate transport channel, thereby damaging bicarbonate secretion.

CFTR-mediated bicarbonate transport has been shown to be critical for the function of thin mucus and normal sperm in the sinuses, Dr. Whitcomb said: When we investigated patients with CFTR gene variant pancreatitis, we found that one subset of patients had chronic sinus Inflammatory problems. For male subjects over 30 years of age but infertile, almost all of them have one of these nine CFTR variants.

He added that identifying the mechanisms that cause these diseases makes it possible to develop new treatments. (Bio Valley Bioon.com)

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