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一种源自威特综合征蛋白相互作用蛋白(WIP)的肽可恢复 WIP 结合缺陷型 WAS 突变患者淋巴细胞中的 WAS 蛋白水平和肌动蛋白细胞骨架重组。

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.

机构信息

Division of Immunology, Children's Hospital, Boston, MA 02115, USA.

出版信息

J Allergy Clin Immunol. 2011 Apr;127(4):998-1005.e1-2. doi: 10.1016/j.jaci.2011.01.015. Epub 2011 Mar 3.

DOI:10.1016/j.jaci.2011.01.015
PMID:21376381
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3077682/
Abstract

BACKGROUND

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.

OBJECTIVE

To restore WASP levels and correct T-cell function in WAS/XLT patients with mutations in the WIP-binding domain of WASP.

METHODS

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.

RESULTS

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.

CONCLUSION

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.

摘要

背景

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。

目的

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。

方法

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。

结果

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。

结论

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/c84a70bf55ea/nihms281948f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/4a2ae3328859/nihms281948f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/7530deefcb5c/nihms281948f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/01fbaf492165/nihms281948f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/399a2270cbe0/nihms281948f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/b24802240cd0/nihms281948f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/c84a70bf55ea/nihms281948f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/4a2ae3328859/nihms281948f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/7530deefcb5c/nihms281948f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/01fbaf492165/nihms281948f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/399a2270cbe0/nihms281948f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/b24802240cd0/nihms281948f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a57/3077682/c84a70bf55ea/nihms281948f6.jpg

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