Division of Immunology, Children's Hospital, Boston, MA 02115, USA.
J Allergy Clin Immunol. 2011 Apr;127(4):998-1005.e1-2. doi: 10.1016/j.jaci.2011.01.015. Epub 2011 Mar 3.
The Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are caused by mutations in WAS, which encodes for WAS protein (WASP). The WASP-interacting protein (WIP) stabilizes WASP, as evidenced by severely decreased WASP levels in T cells from WIP-deficient mice. The majority of missense mutations in patients with WAS/XLT are located in the WIP-binding domain of WASP and might result in dissociation of the WASP-WIP complex and WASP degradation.
To restore WASP levels and correct T-cell function in WAS/XLT patients with mutations in the WIP-binding domain of WASP.
WIP, and a WIP-derived 41-amino acid-long peptide, which interacts with WASP and was designated nanoWIP (nWIP), were fused to enhanced green fluorescent protein and introduced by electroporation into EBV-transformed B cells, and by retroviral transduction into purified blood T cells from patients with WAS. WASP levels were measured by intracellular fluorescence-activated cell sorting staining. The actin cytoskeleton was visualized by intracellular phalloidin staining.
Introduction of WIP and nWIP restored WASP levels to normal in EBV-transformed B-cell lines from XLT patients with missense mutations in the WIP-binding domain of WASP and residual WASP levels, and corrected the defective spreading and pseudopodia formation of their T cells in response to immobilized anti-CD3.
A WASP-binding WIP-derived peptide stabilizes WASP in cells from XLT patients with missense mutations that disrupt WIP binding, and corrects their T-cell actin cytoskeleton defect. This may provide a novel therapeutic strategy for these patients.
Wiskott-Aldrich 综合征(WAS)和 X 连锁血小板减少症(XLT)是由 WAS 基因突变引起的,该基因编码 WAS 蛋白(WASP)。WASP 相互作用蛋白(WIP)稳定 WASP,这一点可以从 WIP 缺陷小鼠的 T 细胞中 WASP 水平显著降低得到证明。大多数患有 WAS/XLT 的患者的错义突变位于 WASP 的 WIP 结合域,可能导致 WASP-WIP 复合物解离和 WASP 降解。
恢复 WASP 水平并纠正 WASP-WIP 结合域突变的 WAS/XLT 患者的 T 细胞功能。
将 WIP 和与 WASP 相互作用并被指定为 nanoWIP(nWIP)的 WIP 衍生的 41 个氨基酸长肽融合到增强型绿色荧光蛋白中,通过电穿孔导入 EBV 转化的 B 细胞,并通过逆转录病毒转导导入来自 WAS 患者的纯化血液 T 细胞。通过细胞内荧光激活细胞分选染色测量 WASP 水平。通过细胞内鬼笔环肽染色可视化肌动蛋白细胞骨架。
将 WIP 和 nWIP 导入 XLT 患者的 EBV 转化的 B 细胞系中,这些患者在 WASP-WIP 结合域中存在错义突变且有残留 WASP 水平,可使 WASP 水平恢复正常,并纠正其 T 细胞在固定化抗 CD3 刺激下的缺陷性扩展和伪足形成。
与 WIP 结合的 WASP 结合 WIP 衍生肽稳定了 XLT 患者突变破坏 WIP 结合的细胞中的 WASP,并纠正了其 T 细胞肌动蛋白细胞骨架缺陷。这可能为这些患者提供一种新的治疗策略。