Buck Institute for Research on Aging, Novato, CA, United States of America.
University of California San Francisco, San Francisco, CA, United States of America.
PLoS One. 2022 Jun 30;17(6):e0250137. doi: 10.1371/journal.pone.0250137. eCollection 2022.
Cystinuria is one of various disorders that cause biomineralization in the urinary system, including bladder stone formation in humans. It is most prevalent in children and adolescents and more aggressive in males. There is no cure, and only limited disease management techniques help to solubilize the stones. Recurrence, even after treatment, occurs frequently. Other than a buildup of cystine, little is known about factors involved in the formation, expansion, and recurrence of these stones. This study sought to define the growth of bladder stones, guided by micro-computed tomography imaging, and to profile dynamic stone proteome changes in a cystinuria mouse model. After bladder stones developed in vivo, they were harvested and separated into four developmental stages (sand, small, medium and large stone), based on their size. Data-dependent and data-independent acquisitions allowed deep profiling of stone proteomics. The proteomic signatures and pathways illustrated major changes as the stones grew. Stones initiate from a small nidus, grow outward, and show major enrichment in ribosomal proteins and factors related to coagulation and platelet degranulation, suggesting a major dysregulation in specific pathways that can be targeted for new therapeutic options.
胱氨酸尿症是引起泌尿系统生物矿化的各种疾病之一,包括人类膀胱结石的形成。它在儿童和青少年中最为常见,在男性中更为严重。目前尚无治愈方法,只有有限的疾病管理技术有助于溶解结石。即使经过治疗,结石仍经常复发。除了胱氨酸的积累外,对于这些结石的形成、扩张和复发所涉及的因素知之甚少。本研究旨在通过微计算机断层扫描成像来定义膀胱结石的生长,并对胱氨酸尿症小鼠模型中的动态结石蛋白质组变化进行分析。在体内形成膀胱结石后,根据其大小将其收获并分离成四个发育阶段(沙粒、小、中、大石)。数据依赖和数据独立采集允许对结石蛋白质组进行深度分析。蛋白质组学特征和途径表明,随着结石的生长,会发生重大变化。结石从一个小核开始生长,向外生长,并在核糖体蛋白和与凝血及血小板脱颗粒相关的因子中富集,表明特定途径发生了重大失调,这可能为新的治疗选择提供目标。