[Recent advances in molecular pathogenesis and treatment of polycystic kidney disease].
Polycystic kidney diseases (PKD) are common genetic disorders characterized by formation and progressive enlargement of cysts kidney, liver and other organs, leading to end stage renal disease. Regardless of the genetic defect underlying PKD, cystic epithelia seem to display common abnormalities: increased proliferation and apoptosis, loss of cellular differentiation and polarity, hypersecretion. The localization of multiples proteins, whose function are disrupted in PKD, in the primary cilium or at basal body at the base of the cilium highlight this neglected organelle as a common trigger of cystic diseases. Significant progresses have been made over the last few years towards a greater understanding of the molecular pathogenesis of cysts formation, particularly in the signaling pathways involved in cytogenesis: cAMP, mTOR, Wnt, Ras/MAPK. These advances have already brought several potential therapies targeting several key pathways of cystogenesis.
Covic
M
M
Universitatea de Medicină şi Farmacie Gr.T. Popa Iaşi, Facultatea de Medicină, Disciplina de Genetică umană.
Covic
Maria
M
D000242:Cyclic AMP / Q000378:metabolism; D011905:Genes, ras; D005819:Genetic Markers; D006801:Humans; D020928:Mitogen-Activated Protein Kinases / Q000378:metabolism; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000628:therapy*; D011494:Protein Kinases / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D058570:TOR Serine-Threonine Kinases; D050396:TRPP Cation Channels / Q000378:metabolism
D000242:Cyclic AMP; D005819:Genetic Markers; D020928:Mitogen-Activated Protein Kinases; D011494:Protein Kinases; D011956:Receptors, Cell Surface; D058570:TOR Serine-Threonine Kinases; D050396:TRPP Cation Channels; C451750:PKHD1 protein, human; C546842:MTOR protein, human