Butera Diego, Pijning Aster E, Avery Nathan G, Coxon Carmen H, Metcalfe Clive, Mimoun Angelina, Lacroix-Desmazes Sébastien, Spiegel Paul Clint, Hogg Philip J
School of Life Sciences, University of Technology Sydney and Centre for Cancer Innovations, Centenary Institute, The University of Sydney, Sydney, NSW, Australia.
Chemistry Department, Western Washington University, Bellingham, WA.
Blood Adv. 2025 Aug 12;9(15):3706-3715. doi: 10.1182/bloodadvances.2025016474.
Hemophilia A is a chronic life-threatening condition caused by the deficiency or dysfunction of plasma coagulation factor VIII (FVIII) and commonly managed by prophylaxis with regular infusion of FVIII protein. A major obstacle to FVIII replacement therapy is the generation of alloantibodies that diminish efficacy. Disulfide bonds link pairs of cysteine residues in proteins and, in several proteins, have been found to be only partially formed in the mature proteins. FVIII contains 8 disulfide bonds and their redox state in human blood and recombinant FVIII was determined using differential cysteine alkylation and mass spectrometry. All 8 disulfide bonds were found to be unformed in ∼10% to ∼70% of molecules of FVIII populations, which suggested a conformational flexibility that could favor the binding of certain ligands to subsets of FVIII with more or less formed disulfide bonds. To test this hypothesis, the binding of a panel of 5 patient-derived anti-FVIII antibodies to the population of FVIII disulfide-bonded states was evaluated. All 5 antibodies bound preferentially to FVIII states in which 2 or 3 of the 8 disulfides are significantly more unformed: C1918-C1922 in the A3 domain, C2040-C2188 in the C1 domain, and C2193-C2345 in the C2 domain. Disulfide bond mutagenesis experiments and molecular dynamics simulations indicate that this subset of FVIII states has long-range conformational dynamism that favors antidrug antibody binding. These findings will assist efforts to engineer an FVIII molecule that is less prone to neutralization by antidrug antibodies and has general implications for autoimmune conditions and antibody drug efficacy.
甲型血友病是一种由血浆凝血因子VIII(FVIII)缺乏或功能障碍引起的慢性危及生命的疾病,通常通过定期输注FVIII蛋白进行预防治疗。FVIII替代疗法的一个主要障碍是产生降低疗效的同种抗体。二硫键连接蛋白质中的半胱氨酸残基对,并且在几种蛋白质中,已发现其在成熟蛋白质中仅部分形成。FVIII含有8个二硫键,利用差异半胱氨酸烷基化和质谱法测定了它们在人血液和重组FVIII中的氧化还原状态。发现在FVIII群体中约10%至约70%的分子中,所有8个二硫键均未形成,这表明其构象具有灵活性,可能有利于某些配体与具有或多或少已形成二硫键的FVIII亚群结合。为了验证这一假设,评估了一组5种患者来源的抗FVIII抗体与FVIII二硫键结合状态群体的结合情况。所有5种抗体均优先结合FVIII的某些状态,在这些状态中,8个二硫键中的2个或3个明显更未形成:A3结构域中的C1918 - C1922、C1结构域中的C2040 - C2188以及C2结构域中的C2193 - C2345。二硫键诱变实验和分子动力学模拟表明,FVIII的这一亚群状态具有有利于抗药抗体结合的远程构象动态性。这些发现将有助于设计出不易被抗药抗体中和的FVIII分子,并对自身免疫性疾病和抗体药物疗效具有普遍意义。