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CF is a genetic disorder you are born with. We all get one CF gene from our mom, and one from our dad. If both genes are abnormal, we will have CF. This gene is called the CFTR gene, which stands for cystic fibrosis transmembrane conductance regulator. Gosh, talk about a big gene! The CFTR gene contains instructions for making a protein that is also called CFTR. When this gene also has a mistake, called a mutation, it causes CF. Over 1,000 mutations have been discovered. The CFTR protein is supposed to help salt and water move in and out of cells throughout our bodies, which we need to stay healthy and grow. When the CFTR protein is broken it works like a dam and stops the salt and water from flowing that makes sticky mucus form in our lungs, which makes us cough, and in our pancreas, which makes it hard for us to digest foods. This mucus also attracts bacteria and germs that can make us sick. The good news is that doctors at the Johns Hopkins CF Center and elsewhere are looking for ways to fix these broken parts in the CFTR gene.
| | Instructions for moving water and salt in and out of cells come from the CFTR gene. when there's a mistake, we get CF. |
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