Verhoeven A J, van Oostrum I E, van Haarlem H, Akkerman J W
Department of Haematology, University Hospital Utrecht, The Netherlands.
Thromb Haemost. 1989 Feb 28;61(1):10-4.
The platelet function defect seen in patients with Wiskott-Aldrich syndrome (WAS) has been ascribed to abnormal mitochondrial energy generation. The present study reveals a reduced energy content and low adenylate energy charge in platelets from two WAS-patients. Energy consumption in the resting platelets is slightly beyond the normal range, especially when ATP-resynthesis is primarily glycolytic. When platelets are stimulated with thrombin, the increase in energy consumption is 40-60% lower than in controls, both when energy is produced in glycolysis as when the mitochondria supply most of the energy. Analysis of the electron transport chain reveals no abnormalities. In contrast, the balance between glycolytic and mitochondrial ATP resynthesis is disturbed with a lowered contribution of oxidative ATP production. No such abnormalities are found in two WAS-carriers with the exception of a slight impairment in energy consumption during stimulation with thrombin. Thus, the platelet malfunction in WAS may be caused by a defect in the regulation of energy generation.
威斯科特-奥尔德里奇综合征（WAS）患者出现的血小板功能缺陷被归因于线粒体能量生成异常。本研究揭示了两名WAS患者血小板中的能量含量降低以及腺苷酸能量电荷较低。静息血小板的能量消耗略超出正常范围，尤其是当ATP再合成主要通过糖酵解进行时。当用凝血酶刺激血小板时，无论能量是通过糖酵解产生还是线粒体提供大部分能量，能量消耗的增加都比对照组低40 - 60%。对电子传递链的分析未发现异常。相反，糖酵解和线粒体ATP再合成之间的平衡受到干扰，氧化ATP产生的贡献降低。除了在凝血酶刺激期间能量消耗略有受损外，两名WAS携带者未发现此类异常。因此，WAS中的血小板功能障碍可能是由能量生成调节缺陷引起的。
