Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease

Conclusions These findings support a cellular recessive mechanism for cyst formation in ADPKD caused primarily by inactivating constitutional and somatic mutations of PKD1 or PKD2 in kidney cyst epithelium. The potential interactions of these genes with other ciliopathy- and cancer-related genes to influence ADPKD severity merits further evaluation.

http://jasn.asnjournals.org/cgi/content/short/29/8/2139?rss=1

Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Tan, A. Y., Zhang, T., Michaeel, A., Blumenfeld, J., Liu, G., Zhang, W., Zhang, Z., Zhu, Y., Rennert, L., Martin, C., Xiang, J., Salvatore, S. P., Robinson, B. D., Kapur, S., Donahue, S., Bobb, W. O., Rennert, H. Tags: Basic Research Source Type: research