Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
J Immunol. 2023 May 15;210(10):1543-1551. doi: 10.4049/jimmunol.2200932.
Complement factor D (FD) is a rate-limiting enzyme of the alternative pathway (AP). Recent studies have suggested that it is synthesized as an inactive precursor and that its conversion to enzymatically active FD is catalyzed by mannan-binding lectin-associated serine protease 3 (MASP3). However, whether MASP3 is essential for AP complement activity remains uncertain. It has been shown that Masp1/3 gene knockout did not prevent AP complement overactivation in a factor H-knockout mouse, and a human patient lacking MASP3 still retained AP complement activity. In this study, we have assessed AP complement activity in a Masp3-knockout mouse generated by CRISPR/Cas9 editing of the Masp1/3 gene. We confirmed specific Masp3 gene inactivation by showing intact MASP1 protein expression and absence of mature FD in the mutant mice. Using several assays, including LPS- and zymosan-induced C3b deposition and rabbit RBC lysis tests, we detected plasma concentration-dependent AP complement activity in Masp3 gene-inactivated mice. Thus, although not measurable in 5% plasma, significant AP complement activity was detected in 20-50% plasma of Masp3 gene-inactivated mice. Furthermore, whereas FD gene deletion provided more than 90% protection of CD55/Crry-deficient RBCs from AP complement-mediated extravascular hemolysis, Masp3 gene deletion only provided 30% protection in the same study. We also found pro-FD to possess intrinsic catalytic activity, albeit at a much lower level than mature FD. Our data suggest that MASP3 deficiency reduces but does not abrogate AP complement activity and that this is explained by intrinsic pro-FD activity, which can be physiologically relevant in vivo.
补体因子 D (FD) 是替代途径 (AP) 的限速酶。最近的研究表明,它以前体的无活性形式合成,其向具有酶活性的 FD 的转化由甘露聚糖结合凝集素相关丝氨酸蛋白酶 3 (MASP3) 催化。然而,MASP3 是否对 AP 补体活性是必需的仍不确定。已经表明,Masp1/3 基因敲除不能防止因子 H 敲除小鼠中的 AP 补体过度激活,并且缺乏 MASP3 的人类患者仍保留 AP 补体活性。在这项研究中,我们通过 CRISPR/Cas9 编辑 Masp1/3 基因在 Masp3 敲除小鼠中评估了 AP 补体活性。我们通过显示突变小鼠中完整的 MASP1 蛋白表达和成熟 FD 的缺失来证实特定的 Masp3 基因失活。通过使用几种测定法,包括 LPS 和酵母聚糖诱导的 C3b 沉积和兔 RBC 溶解试验,我们在 Masp3 基因失活的小鼠中检测到了依赖于血浆浓度的 AP 补体活性。因此,尽管在 5%的血浆中无法测量,但在 Masp3 基因失活的小鼠的 20-50%的血浆中检测到了显著的 AP 补体活性。此外,虽然 FD 基因缺失为 CD55/Crry 缺陷 RBC 提供了超过 90%的 AP 补体介导的血管外溶血的保护,但在同一研究中,Masp3 基因缺失仅提供了 30%的保护。我们还发现前 FD 具有内在的催化活性,尽管其活性水平比成熟 FD 低得多。我们的数据表明,MASP3 缺乏会降低但不会消除 AP 补体活性,这可以通过内在的前 FD 活性来解释,这种活性在体内可能具有生理相关性。