Sohrabi-Jahromi Salma, Marashi Sayed-Amir, Kalantari Shiva
Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.
Chronic Kidney Disease Research Center (CKDRC), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mamm Genome. 2016 Apr;27(3-4):158-67. doi: 10.1007/s00335-016-9622-2. Epub 2016 Feb 29.
Focal Segmental Glomerulosclerosis (FSGS) is a type of nephrotic syndrome which accounts for 20 and 40 % of such cases in children and adults, respectively. The high prevalence of FSGS makes it the most common primary glomerular disorder causing end-stage renal disease. Although the pathogenesis of this disorder has been widely investigated, the exact mechanism underlying this disease is still to be discovered. Current therapies seek to stop the progression of FSGS and often fail to cure the patients since progression to end-stage renal failure is usually inevitable. In the present work, we use a kidney-specific metabolic network model to study FSGS. The model was obtained by merging two previously published kidney-specific metabolic network models. The validity of the new model was checked by comparing the inactivating reaction genes identified in silico to the list of kidney disease implicated genes. To model the disease state, we used a complete list of FSGS metabolic biomarkers extracted from transcriptome and proteome profiling of patients as well as genetic deficiencies known to cause FSGS. We observed that some specific pathways including chondroitin sulfate degradation, eicosanoid metabolism, keratan sulfate biosynthesis, vitamin B6 metabolism, and amino acid metabolism tend to show variations in FSGS model compared to healthy kidney. Furthermore, we computationally searched for the potential drug targets that can revert the diseased metabolic state to the healthy state. Interestingly, only one drug target, N-acetylgalactosaminidase, was found whose inhibition could alter cellular metabolism towards healthy state.
局灶节段性肾小球硬化(FSGS)是一种肾病综合征,在儿童和成人肾病综合征病例中分别占20%和40%。FSGS的高发病率使其成为导致终末期肾病最常见的原发性肾小球疾病。尽管对该疾病的发病机制已进行了广泛研究,但其确切病因仍有待发现。目前的治疗旨在阻止FSGS的进展,但往往无法治愈患者,因为进展至终末期肾衰竭通常不可避免。在本研究中,我们使用肾脏特异性代谢网络模型来研究FSGS。该模型通过合并两个先前发表的肾脏特异性代谢网络模型获得。通过将计算机模拟鉴定的失活反应基因与肾脏疾病相关基因列表进行比较,检验了新模型的有效性。为了模拟疾病状态,我们使用了从患者转录组和蛋白质组分析中提取的FSGS代谢生物标志物完整列表以及已知导致FSGS的基因缺陷。我们观察到,与健康肾脏相比,FSGS模型中一些特定途径,包括硫酸软骨素降解、类花生酸代谢、硫酸角质素生物合成、维生素B6代谢和氨基酸代谢,往往会出现变化。此外,我们通过计算寻找可以将患病代谢状态恢复到健康状态的潜在药物靶点。有趣的是,仅发现一个药物靶点,即N - 乙酰半乳糖胺酶,其抑制作用可使细胞代谢向健康状态转变。