APOL1-mediated kidney disease is caused by certain genetic changes in the APOL1 gene that damage kidney cells (these changes are sometimes called variations). When these kidney cells are damaged, a large amount of protein is lost from the blood and leaks into the urine, which affects the kidneys’ ability to work properly.
About the APOL1 gene.
APOL1 is a naturally occurring gene that can be found in many tissues of the body, including the blood, saliva, and kidneys.
A gene is made up of DNA, which acts like a recipe that holds the instructions telling our bodies how to develop and function. Genes tell cells how to make specific proteins, and proteins are used by the cell to perform certain functions, to grow, and to survive.
One of the jobs that the APOL1 protein has is to protect the body against infection from a parasite. Parasites are living things that can make a person sick if they get inside them. People with CKD not caused by diabetes who have a variation in their APOL1 gene have a higher risk of losing kidney function. There are currently no approved treatments that address the underlying genetic cause of APOL1-mediated CKD.