Conquering kidney disease
Our research on PKD is helping provide insights about the mechanisms of normal tubule development and maturation, which may lead to novel therapies for genetic kidney diseases.
As principal investigator of the Polycystic Kidney Disease Discovery Laboratory at Mayo Clinic, Peter C. Harris, Ph.D., is investigating molecular events associated with tubule formation, with a focus on polycystic kidney disease and related conditions.
To identify proteins important in this process, our research team studies inherited disorders that result in abnormal tubule formation and maintenance in the kidneys — a group of diseases called polycystic kidney disease (PKD). PKD causes cyst development in the kidneys and often elsewhere in the body, ultimately resulting in renal failure.
Our lab has used genetic approaches to identify genes that cause the two major forms of PKD — autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease — and Meckel syndrome, a syndromic form of PKD.
Autosomal dominant polycystic kidney disease is a common, late-onset kidney disease that accounts for 4% to 10% of patients who require a kidney transplant or dialysis. Autosomal recessive polycystic kidney disease, which is less common, typically develops in infancy and is associated with a high level of neonatal death and childhood renal failure. Meckel syndrome is a lethal, recessive disease that involves central nervous system and digit abnormalities and is part of a group of disease called renal ciliopathies.
Research has shown a link between various forms of polycystic kidney disease and primary cilia, which are sensory organelles that protrude from the apical surface of epithelial cells. The autosomal dominant polycystic kidney disease proteins are thought to have a sensory role on cilia within tubules. However, the function is less clear for fibrocystin, the protein associated with autosomal recessive polycystic kidney disease. In the case of the Meckel syndrome proteins, they often regulate trafficking of proteins into and out of the cilia.
Our lab has several research affiliations at Mayo Clinic:
About Dr. Harris
Dr. Harris is a professor of biochemistry and molecular biology and a professor of medicine at Mayo Clinic College of Medicine and Science in Rochester, Minnesota. He is also associate director of the Mayo Clinic Pirnie Translational Polycystic Kidney Disease Center. Dr. Harris' extensive research in kidney disease is helping improve diagnostics and prognostics of polycystic kidney disease and related diseases.