PKD2geeneissä

The PKD2 gene, also known as polycystic kidney disease 2, plays a crucial role in human health, primarily associated with the development of autosomal dominant polycystic kidney disease (ADPKD). This gene encodes for polycystin-2, a protein that forms part of a complex with polycystin-1, the protein encoded by the PKD1 gene. Together, these proteins are thought to function as ion channels, regulating calcium ion transport within cells.

Mutations in the PKD2 gene are the second most common cause of ADPKD, accounting for approximately 15% of cases. These mutations lead to a dysfunctional polycystin-2 protein, disrupting the normal function of the cell and ultimately contributing to cyst formation in the kidneys. The progressive growth of these cysts can impair kidney function over time, leading to a range of symptoms including abdominal pain, high blood pressure, and eventually kidney failure.

While ADPKD is the primary condition linked to PKD2 mutations, research has explored potential associations with other health issues, though these links are less established. Understanding the function of the PKD2 gene and the consequences of its mutations is vital for developing diagnostic tools and therapeutic strategies for individuals affected by polycystic kidney disease. Ongoing research continues to shed light on the intricate molecular mechanisms involving PKD2 and its impact on kidney health.