Kofotolios Ioannis, Bonios Michael J, Adamopoulos Markos, Mourouzis Iordanis, Filippatos Gerasimos, Boletis John N, Marinaki Smaragdi, Mavroidis Manolis
Clinic of Nephrology and Renal Tranplantation, Laiko Hospital, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Center of Basic Research, Biomedical Research Foundation, Academy of Athens, 11527 Athens, Greece.
Biomedicines. 2024 Feb 3;12(2):362. doi: 10.3390/biomedicines12020362.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) stands as the most prevalent hereditary renal disorder in humans, ultimately culminating in end-stage kidney disease. Animal models carrying mutations associated with polycystic kidney disease have played an important role in the advancement of ADPKD research. The rat model, carrying an R823W mutation in the gene, is characterized by cyst formation and kidney enlargement. The mutated protein, named Samcystin, is localized in cilia of tubular epithelial cells and seems to be involved in cystogenesis. The homozygous mutation leads to end-stage renal disease and death, making it a critical factor in kidney development and function. This review explores the utility of the rat model, highlighting its phenotypic similarity to human ADPKD. Specifically, we discuss its role in preclinical trials and its importance for investigating the pathogenesis of the disease and developing new therapeutic approaches.
常染色体显性多囊肾病（ADPKD）是人类最常见的遗传性肾脏疾病，最终会发展为终末期肾病。携带与多囊肾病相关突变的动物模型在ADPKD研究进展中发挥了重要作用。携带该基因突变中R823W突变的大鼠模型，其特征为囊肿形成和肾脏肿大。这种突变蛋白名为Samcystin，定位于肾小管上皮细胞的纤毛中，似乎参与了囊肿形成过程。纯合突变会导致终末期肾病和死亡，使其成为肾脏发育和功能的关键因素。本综述探讨了该大鼠模型的实用性，强调了其与人类ADPKD的表型相似性。具体而言，我们讨论了其在临床前试验中的作用，以及对于研究该疾病发病机制和开发新治疗方法的重要性。
