Mutations in the PKD2 gene lead to autosomal dominant polycystic kidney disease (ADPKD), characterized by kidney cyst growth and potential kidney failure. The PKD2 gene encodes an ion channel crucial for kidney function, and over 95 percent of ADPKD patients have mutations in PKD1 or PKD2. Novel research utilized techniques like cryogenic electron microscopy to examine how specific mutations (C632R, F629S, R638C) affect the channel's function, structure, and protein trafficking within cells. Current treatment options targeting these genetic variants do not exist, highlighting a need for therapeutic advancement.
"For over 20 years, we've known that certain genetic mutations cause this disease, yet we still lack a drug that can prevent cyst formation in affected individuals."
"We discovered three germline missense variants - C632R, F629S and R638C - located in PKD2's pore helix that cause defects in ion channel function, assembly and cilia trafficking."
#pkd2 #autosomal-dominant-polycystic-kidney-disease #ion-channels #genetic-mutations #therapeutic-development
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