Department of Internal Medicine, Yale School of Medicine, New Haven, CT, USA.
Department of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA.
Nat Genet. 2021 Dec;53(12):1649-1663. doi: 10.1038/s41588-021-00946-4. Epub 2021 Oct 11.
Initiation of cyst formation in autosomal dominant polycystic kidney disease (ADPKD) occurs when kidney tubule cells are rendered null for either PKD1 or PKD2 by somatic 'second hit' mutations. Subsequent cyst progression remodels the organ through changes in tubule cell shape, proliferation and secretion. The kidney develops inflammation and fibrosis. We constructed a mouse model in which adult inactivation of either Pkd gene can be followed by reactivation of the gene at a later time. Using this model, we show that re-expression of Pkd genes in cystic kidneys results in rapid reversal of ADPKD. Cyst cell proliferation is reduced, autophagy is activated and cystic tubules with expanded lumina lined by squamoid cells revert to normal lumina lined by cuboidal cells. Increases in inflammation, extracellular matrix deposition and myofibroblast activation are reversed, and the kidneys become smaller. We conclude that phenotypic features of ADPKD are reversible and that the kidney has an unexpected capacity for plasticity controlled at least in part by ADPKD gene function.
常染色体显性多囊肾病 (ADPKD) 中囊肿的形成始于肾单位细胞中 PKD1 或 PKD2 基因发生体细胞“二次打击”突变,导致该基因失活。随后囊肿的进展通过改变肾小管细胞的形状、增殖和分泌来重塑器官。肾脏会发生炎症和纤维化。我们构建了一种小鼠模型,在此模型中,可以在以后的时间重新激活任一 Pkd 基因的表达。使用该模型,我们发现囊性肾脏中 Pkd 基因的重新表达可导致 ADPKD 迅速逆转。囊肿细胞增殖减少,自噬被激活,并且由扁平细胞衬里的扩张管腔的囊性小管恢复为正常的立方细胞衬里的管腔。炎症、细胞外基质沉积和肌成纤维细胞激活的增加被逆转,并且肾脏变小。我们的结论是,ADPKD 的表型特征是可逆转的,并且肾脏具有出乎意料的可塑性,至少部分受 ADPKD 基因功能的控制。