The APOL1 Gene And Its Effect On Kidney Disease

The kidney is a very complex organ that comprises 30 different cell types. Diagnosing kidney disease becomes easier when a patient’s specific, genetic cell type can be identified. The study of specific genes provides vital information on kidney disease and its progression. “New research is suggesting that genetic differences between people may influence an individual’s lifetime risk for kidney disease.”

Apolipoprotein L1 (APOL1) is one of the more common genetic cell mutations. It produces a protein that increases the risk of developing nondiabetic kidney disease and plays a role in the body's immune system. Everyone has 2 copies of the APOL1 gene (G1 and G2). Some individuals have a mutation in one or both of these APOL1 genes. 

“The APOL1 gene mutation has been shown to increase the risk for significant kidney damage in some. People who inherit mutations in both of their APOL1 genes have a higher chance of developing kidney disease including, but not limited to, focal segmental glomerulosclerosis (FSGS).”

Normally, the APOL1 gene is helpful to the immune system. It creates a protein in your body and tissues that helps to fight infection. Some people inherit the gene mutation from their parents. APOL1 cell mutation looks like:

• Damage to the parts of the kidney that filter blood.
• May cause some cells in the kidney to die which leads to damage/scarring in the kidneys and even kidney failure.

If both of your APOL1 genes are mutated, “you have a 10 times higher chance of having a type of kidney disease called focal segmental glomerulosclerosis (FSGS).” This is a rare type of kidney disease in the filters of your kidneys. It is often called, “APOL1-mediated kidney disease or APOL1-mediated FSGS. APOL1-mediated FSGS causes damage to the kidneys in a short time, and can lead to kidney failure much faster than other types of FSGS.”

Genetic testing will confirm an APOL1 diagnosis. The most common groups of people to develop this mutation are:

• Those from African descent. (Particularly those from West Africa).
• Those with HIV and are African American.
• Those diagnosed with high blood pressure (hypertension).
• Those who are Latina/Latino.

Not everyone with the APOL1 mutation will develop kidney disease. There is a 1 in 5 chance. Currently, there are no specific treatment options for this variation, other than clinical trials. But there are steps you can take to prevent or delay disease progression:

• Keep regular visits with your doctor for blood tests and screenings.
• Eat healthy and limit your salt intake.
• Take your prescribed medications as explained by your doctor.
• Get at least 30 minutes a day of physical activity.
• Quit smoking.

“As more research is developed around APOL1, new medical treatments will also be able to support and treat those with genetic markers for APOL1.”