Polycystic Kidney Disease Research
The goals of polycystic kidney disease research studies are to test new treatment options for safety and effectiveness, as well as answer questions about the condition -- such as the role that abnormal genes can play in causing autosomal dominant and autosomal recessive polycystic kidney disease. Patients who join polycystic kidney disease research studies can benefit from new polycystic kidney disease treatments, and also make an important contribution to medical science by helping doctors learn more about the disease.
Doctors and scientists all over the country are conducting polycystic kidney disease (PKD) research. Polycystic kidney disease research studies are designed to answer important questions, and to find out if new approaches are safe and effective. Polycystic kidney disease research has already led to many advances, and researchers continue to search for more effective methods for dealing with polycystic kidney disease.
Two areas of current polycystic kidney disease research include:
Polycystic kidney disease research scientists have begun to identify the processes that trigger the formation of PKD cysts. Advances in the field of genetics have increased our understanding of the abnormal genes responsible for autosomal dominant and autosomal recessive polycystic kidney disease. Scientists have located two genes associated with autosomal dominant PKD. The first gene was located in 1985, on chromosome 16, and labeled PKD1. PKD2 was localized to chromosome 4, in 1993. Within 3 years, the scientists had isolated the proteins these two genes produce: polycystin-1 and polycystin-2.
When both of these genes are normal, the proteins they produce work together to foster normal kidney development and inhibit cyst formation. A mutation in either PKD1 or PKD2 can lead to cyst formation, but evidence suggests that the disease development also requires other factors, in addition to the mutation in one of the PKD genes.
Genetic analyses of most families with PKD confirm mutations in either the PKD1 or PKD2 gene. In rare cases, however, families with PKD have been found to have normal PKD1 and PKD2 genes. As a result, researchers theorize that a PKD3 gene exists, but that gene has not been mapped or identified.