INSERM, U951, Genethon, Evry, France.
Haematologica. 2013 Aug;98(8):1300-8. doi: 10.3324/haematol.2012.077040. Epub 2013 Feb 26.
The Wiskott-Aldrich syndrome protein is an essential cytoskeleton regulator found in cells of the hematopoietic lineage and controls the motility of leukocytes. The impact of WAS gene deficiency on the mobilization of hematopoietic progenitor/stem cells in circulation has remained unexplored but information would be pertinent in the context of autologous gene therapy of Wiskott-Aldrich syndrome. The response to granulocyte-colony stimulating factor mobilization was investigated in a murine WAS knock-out model of the disease, by measuring hematologic parameters, circulation and engraftment of hematopoietic progenitor/stem cells. In the steady-state, adult WAS knock-out mice have B-cell lymphopenia, marked neutrophilia, increased counts of circulating hematopoietic progenitor cells and splenomegaly, presumably caused by the retention of hematopoietic progenitor cells due to high levels of splenic CXCL12. In spite of these anomalies, the administration of granulocyte-colony-stimulating factor mobilizes progenitor/stem cells in WAS knock-out mice to the same level and with the same kinetics as in wild-type control mice. Mobilized peripheral blood cells from WAS knock-out mice can be transduced and are able to engraft into lethally-irradiated hosts reconstituting multiple lineages of cells and providing more effective radio-protection than mobilized cells from wild-type control mice. Surprisingly, the homing and the peripheral blood recovery of B lymphocytes was influenced by the background of the host. Thus, in the absence of Wiskott-Aldrich syndrome protein, effective mobilization is achieved but partial correction may occur as a result of an abnormal hematopoietic environment.
威特综合征相关蛋白(Wiskott-Aldrich syndrome protein,WASP)是一种重要的细胞骨架调节蛋白,存在于造血谱系细胞中,控制白细胞的运动。WAS 基因突变对造血祖细胞/干细胞在循环中动员的影响尚未得到探索,但在自体基因治疗威特综合征的背景下,这方面的信息将是相关的。通过测量血液学参数、循环和造血祖细胞/干细胞的植入,研究了疾病的小鼠 WAS 敲除模型中粒细胞集落刺激因子动员的反应。在稳态下,成年 WAS 敲除小鼠有 B 细胞淋巴细胞减少症、明显的中性粒细胞增多、循环造血祖细胞计数增加和脾肿大,这可能是由于高水平的脾趋化因子(C-X-C 基序)配体 12(CXCL12)导致造血祖细胞的滞留。尽管存在这些异常,粒细胞集落刺激因子的给药仍能使 WAS 敲除小鼠的祖细胞/干细胞动员到与野生型对照小鼠相同的水平和动力学。从 WAS 敲除小鼠动员的外周血细胞可被转导,并能植入致死性照射的宿主中,重建多种细胞谱系,并提供比野生型对照小鼠动员的细胞更有效的放射保护作用。令人惊讶的是,B 淋巴细胞的归巢和外周血恢复受到宿主背景的影响。因此,在没有威特综合征相关蛋白的情况下,虽然可以实现有效的动员,但由于造血环境异常,可能会出现部分纠正。