Phua Yu Leng, Ho Jacqueline
aRangos Research Center, Children's Hospital of Pittsburgh of UPMC bUniversity of Pittsburgh, School of Medicine, Department of Pediatrics, Division of Nephrology, Pittsburgh, Pennsylvania, USA.
Curr Opin Pediatr. 2015 Apr;27(2):219-26. doi: 10.1097/MOP.0000000000000168.
Cystic kidney diseases are common renal disorders characterized by the formation of fluid-filled epithelial cysts in the kidneys. The progressive growth and expansion of the renal cysts replace existing renal tissue within the renal parenchyma, leading to reduced renal function. While several genes have been identified in association with inherited causes of cystic kidney disease, the molecular mechanisms that regulate these genes in the context of post-transcriptional regulation are still poorly understood. There is increasing evidence that microRNA (miRNA) dysregulation is associated with the pathogenesis of cystic kidney disease.
In this review, recent studies that implicate dysregulation of miRNA expression in cystogenesis will be discussed. The relationship of specific miRNAs, such as the miR-17∼92 cluster and cystic kidney disease, miR-92a and von Hippel-Lindau syndrome, and alterations in LIN28-LET7 expression in Wilms tumor will be explored.
At present, there are no specific treatments available for patients with cystic kidney disease. Understanding and identifying specific miRNAs involved in the pathogenesis of these disorders may have the potential to lead to the development of novel therapies and biomarkers.
多囊肾病是常见的肾脏疾病,其特征是在肾脏中形成充满液体的上皮囊肿。肾囊肿的渐进性生长和扩张会取代肾实质内现有的肾组织,导致肾功能下降。虽然已经鉴定出多个与遗传性多囊肾病病因相关的基因,但在转录后调控背景下调节这些基因的分子机制仍知之甚少。越来越多的证据表明,微小RNA(miRNA)失调与多囊肾病的发病机制有关。
在本综述中,将讨论近期涉及miRNA表达失调与囊肿形成的研究。将探讨特定miRNA的关系,如miR-17∼92簇与多囊肾病、miR-92a与冯·希佩尔-林道综合征,以及肾母细胞瘤中LIN28-LET7表达的改变。
目前,多囊肾病患者尚无特效治疗方法。了解和鉴定参与这些疾病发病机制的特定miRNA可能有潜力带来新疗法和生物标志物的开发。