About this Research Topic
Polycystic Kidney Disease (PKD) is a genetically inherited disorder, caused by mutations in one of two genes, PKD1 or PKD2, encoding polycystin-1 (PC-1) or polycystin-2 (PC-2), respectively, leading to Autosomal Dominant Polycystic Kidney Disease (ADPKD), or mutations in the PKHD1 gene, encoding fibrocystin, causing Autosomal Recessive Polycystic Kidney Disease (ARPKD). In both cases, kidneys contain multiple fluid-filled cysts, although other organs may also be affected such as liver. Cyst development leads to organ enlargement and impaired function, and potentially lethal organ failure. PC-1, PC-2 and fibrocystin are transmembrane proteins, localized predominantly in the primary cilium, whose compromised expression impairs intracellular cAMP and calcium homeostasis, affecting many signaling pathways which involve mTOR, WNT, MYC, Hippo signaling, and many others.
The goal of the present Research Topic is to provide a comprehensive overview of the most recent advances in the PKD field, ranging from ciliary signaling dysregulations to the metabolic dysfunction, from cyst formation and enlargement to fluid secretion and accumulation. A special focus is given to update recent progress in defining molecules of the primary cilium involved in cyst initiation.
We invite your contribution either in the form of original research articles, reviews or shorter article types.
Relevant topics include but are not restricted to:
• GPCRs and cAMP signaling in PKD
• Ciliogenesis and ciliary signaling in PKD
• cAMP, calcium and related pathways dysfunctions in PKD
• Polycystins and cilia
• Transcriptomic analysis in PKD
• Modulation of polycystic kidney disease by miRNAs
• Metabolic changes and mitochondria in PKD
• Role of cilia in ARPKD
• Recent advances in molecular diagnosis and therapy of PKD
Keywords: Mechanisms, Polycystic Kidney Disease, Molecular, Mutations, Dominant, Recessive
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.