Cux1 Regulation on PTCH1 gene in Polycystic Kidney Disease’s Progression
Wee, Zhi Tian
MetadataShow full item record
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a hereditary disease that causes fluid-filled cysts that affects 1:500-1:1000 people all over the world. The Galapagos cormorant is a flightless bird that was found without the Cux1 gene, making it flightless. The Galapagos cormorant is how researchers found the four target proteins to focus on in ADPKD research. ADPKD is caused by mutation in PKD1 or PKD2 gene. PKD1 and PKD2 encodes a product called polycystin-1 (PC1) and polycystin-2 (PC2). Mutations in PKD1 or PKD2 can cause abnormalities in fluid secretion, apoptosis, gene expression, and cell polarity. A gene called Patched1 is studied through the lens of ADPKD to determine how it affects the disease. Multiple mice with different gene expressions were used to measure Cux1 expression and cilia length via immunofluorescence and western blots in their kidney tissue to detect Patched1 proteins. Primary cilia is crucial because it is within the Hedgehog pathway (Hh) where this signaling pathway regulates cell proliferation, tissue homeostasis, cell development. The disruption of the primary cilium will cause diseases called ciliopathies. The Notch pathway regulates Cux1, and the disruption of this pathway can cause tubule dilation or RBPJ protein missing which will increase cyst formation.