Abstract
Autosomal Dominant Polycystic Kidney Disease (ADPKD) caused by mutations in polycystic kidney disease 1 or 2 (Pkd1 or Pkd2) gene is the most common inherited renal disease and is characterized by cardiovascular abnormalities like hypertension and aneurysms. Polycystin-1 (PC1) and polycystin-2 (PC2), encoded by Pkd1 and Pkd2 genes, respectively, are detected in the cardiovascular system, indicating that PC1 or PC2 may play an important role in cardiovascular function. In the present review, we summarize current findings of PC1 and PC2 in cardiovascular regulation, such as hypertension and aneurysms associated with ADPKD and embryonic development.
Highlights
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease caused by mutations in Pkd1 or Pkd2 [1]
This review describes the basic structure and function, as well as the expression of polycystins (PCs) in the vascular system, and summarizes evidence demonstrating that PCs are important for hypertension and aneurysms associated with ADPKD
PCs have pivotal roles in hypertension and aneurysms associated with ADPKD as well as during placental development
Summary
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease caused by mutations in Pkd or Pkd2 [1]. PC1 is a large integral membrane protein (~460 kDa) that includes 11 transmembrane segments with extracellular N- and intracellular C-terminal domains. A number of characteristic protein motifs are contained in the extracellular domain including leucine-rich repeats flanked by cysteine-rich domains, a C-type lectin and WSC (cell-wall and stressresponse component) domains, low-density lipoprotein-like domain (LDL), and PKD repeats with homology to immunoglobulins. The interaction between these specific domains and extracellular matrix proteins such as collagen type I, fibronectin, and laminin, indicates the potential role of PC1 in cell-matrix and cell-cell interactions [11]. PC2, encoded by Pkd, contains 968 amino acids (~110 kDa) and includes six transmembrane segments with intracellular N- and C-terminal domains (Figure 1). J Cardiovasc Dis Diagn 1: 110. doi:10.4172/23299517.1000110
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