Genetics of liver cysts

A cyst is a small sac of fluid or air. They can be big or small. They can grow almost anywhere in your body. In almost any organ. Or under your skin. They are not cancer. But some can cause problems. They may grow in groups in your liver or kidneys. This increases the size of your organ. Over time, more cysts may grow. And they can get bigger. This is the case in polycystic liver disease (PLD). Poly means many. Signs of PLD include abdominal pain. Shortness of breath. Indigestion. Acid reflux. And trouble moving. But the good news is your liver still works. PLD is genetic. It can run in families. We all have two copies of each gene. We get one from mom. The other from dad. Some of the genes we get from our parents have changes. Most of the gene changes do not cause problems. They make us who we are. But sometimes, gene changes can cause a disease. This the case with PLD. You only need one gene with the gene changes that can cause PLD to get the disease. The medical term is “autosomal dominant.” The shorthand is ADPLD. We know that changes in three genes can cause ADPLD. But there may be more. Scientists at Vanderbilt University Medical Center will use BioVU to study ADPLD. They want to know more about it. And the gene changes that cause it. They will look for people do and do not have ADPLD. Then they will look for gene changes in both groups. The goal is to find new gene changes that may cause ADPLD. Their results may help us learn more about other polycystic diseases. Like ADPKD, the kidney version of ADPLD. We may find new ways to treat cyst diseases.