Zhu Jili, Chaki Moumita, Lu Dongmei, Ren Chongyu, Wang Shan-Shan, Rauhauser Alysha, Li Binghua, Zimmerman Susan, Jun Bokkyoo, Du Yong, Vadnagara Komal, Wang Hanquin, Elhadi Sarah, Quigg Richard J, Topham Matthew K, Mohan Chandra, Ozaltin Fatih, Zhou Xin J, Marciano Denise K, Bazan Nicolas G, Attanasio Massimo
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas; Department of Nephrology, Renmin Hospital, Wuhan University, Hubei, Wuhan, China;
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas;
Am J Physiol Renal Physiol. 2016 May 1;310(9):F895-908. doi: 10.1152/ajprenal.00431.2015. Epub 2016 Feb 17.
Thrombotic microangiopathy (TMA) is a disorder characterized by microvascular occlusion that can lead to thrombocytopenia, hemolytic anemia, and glomerular damage. Complement activation is the central event in most cases of TMA. Primary forms of TMA are caused by mutations in genes encoding components of the complement or regulators of the complement cascade. Recently, we and others have described a genetic form of TMA caused by mutations in the gene diacylglycerol kinase-ε (DGKE) that encodes the lipid kinase DGKε (Lemaire M, Fremeaux-Bacchi V, Schaefer F, Choi MR, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji WZ, Overton JD, Mane SM, Nurnberg G, Altmuller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nurnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Nat Genet 45: 531-536, 2013; Ozaltin F, Li BH, Rauhauser A, An SW, Soylemezoglu O, Gonul II, Taskiran EZ, Ibsirlioglu T, Korkmaz E, Bilginer Y, Duzova A, Ozen S, Topaloglu R, Besbas N, Ashraf S, Du Y, Liang CY, Chen P, Lu DM, Vadnagara K, Arbuckle S, Lewis D, Wakeland B, Quigg RJ, Ransom RF, Wakeland EK, Topham MK, Bazan NG, Mohan C, Hildebrandt F, Bakkaloglu A, Huang CL, Attanasio M. J Am Soc Nephrol 24: 377-384, 2013). DGKε is unrelated to the complement pathway, which suggests that unidentified pathogenic mechanisms independent of complement dysregulation may result in TMA. Studying Dgke knockout mice may help to understand the pathogenesis of this disease, but no glomerular phenotype has been described in these animals so far. Here we report that Dgke null mice present subclinical microscopic anomalies of the glomerular endothelium and basal membrane that worsen with age and develop glomerular capillary occlusion when exposed to nephrotoxic serum. We found that induction of cyclooxygenase-2 and of the proangiogenic prostaglandin E2 are impaired in Dgke null kidneys and are associated with reduced expression of the antithrombotic cell adhesion molecule platelet endothelial cell adhesion molecule-1/CD31 in the glomerular endothelium. Notably, prostaglandin E2 supplementation was able to rescue motility defects of Dgke knockdown cells in vitro and to restore angiogenesis in a test in vivo. Our results unveil an unexpected role of Dgke in the induction of cyclooxygenase-2 and in the regulation of glomerular prostanoids synthesis under stress.
血栓性微血管病(TMA)是一种以微血管闭塞为特征的疾病,可导致血小板减少、溶血性贫血和肾小球损伤。补体激活是大多数TMA病例的核心事件。TMA的原发性形式是由编码补体成分或补体级联调节因子的基因突变引起的。最近,我们和其他人描述了一种由二酰基甘油激酶-ε(DGKE)基因突变引起的遗传性TMA,该基因编码脂质激酶DGKε(勒梅尔M,弗雷莫-巴奇V,舍费尔F,崔MR,唐WH,勒坎特雷克M,法科里F,塔克S,诺比利F,马丁内斯F,纪WZ,奥弗顿JD,马内SM,纽伦堡G,阿尔特米勒J,蒂勒H,莫林D,德谢内斯G,鲍杜安V,利亚纳斯B,科拉尔L,马吉德MA,西姆科娃E,纽伦堡P,里奥克斯-勒克莱尔N,莫克尔GW,古布勒MC,华J,洛拉特C,利夫顿RP。《自然遗传学》45:531 - 536,2013;奥扎尔廷F,李BH,劳豪泽A,安SW,索伊勒梅佐格鲁O,贡努尔二世,塔斯奇兰EZ,伊西尔利奥格鲁T,科尔克马兹E,比尔吉纳Y,杜佐娃A,奥赞S,托帕洛格鲁R,贝斯巴斯N,阿什拉夫S,杜Y,梁CY,陈P,卢DM,瓦德纳加拉K;阿巴克尔S,刘易斯D,韦克兰B,奎格RJ,兰塞姆RF,韦克兰EK,托法姆MK,巴赞NG,莫汉C,希尔德布兰特F,巴卡洛格鲁A,黄CL,阿塔纳西奥M。《美国肾脏病学会杂志》24:377 - 384,2013)。DGKε与补体途径无关,这表明独立于补体失调的未知致病机制可能导致TMA。研究Dgke基因敲除小鼠可能有助于了解这种疾病的发病机制,但到目前为止,这些动物中尚未描述肾小球表型。在这里,我们报告Dgke基因敲除小鼠存在肾小球内皮和基底膜亚临床微观异常,这些异常随年龄增长而恶化,并且在暴露于肾毒性血清时会出现肾小球毛细血管闭塞。我们发现,Dgke基因敲除的肾脏中环氧合酶-2和促血管生成前列腺素E2的诱导受损,并且与肾小球内皮中抗血栓细胞粘附分子血小板内皮细胞粘附分子-1/CD31的表达降低有关。值得注意的是,补充前列腺素E2能够挽救体外Dgke基因敲低细胞的运动缺陷,并在体内试验中恢复血管生成。我们的结果揭示了Dgke在应激状态下环氧合酶-2的诱导和肾小球前列腺素合成调节中的意外作用。