Akkerman J W, van Brederode W, Gorter G, Zegers B J, Kuis W
Br J Haematol. 1982 Aug;51(4):561-8. doi: 10.1111/j.1365-2141.1982.tb02819.x.
A possible defect in mitochondrial ATP resynthesis in platelets has been used for detection of Wiskott-Aldrich syndrome carriers (Shapiro et al, 1978). The detection was based on an abnormal adrenaline-induced platelet aggregation under conditions that only the mitochondria provide metabolic energy. We evaluated the test and found false negative and false positive results which raised doubts about the applicability of the test and the nature of the underlying defect. Direct analysis of mitochondrial ATP regeneration in patients and carriers showed an impaired mitochondrial energy production which was insufficient to maintain ATP homeostasis when glycolytic energy production was inhibited. Also abnormal was the fall in metabolic ATP concentration during stimulation with adrenaline and especially with thrombin when the platelets were incubated in glucose-free medium. These data provide direct evidence for a regulation defect in mitochondrial ATP resynthesis in platelets of patients and carriers with Wiskott-Aldrich syndrome.
血小板线粒体ATP再合成的可能缺陷已被用于检测威斯科特-奥尔德里奇综合征携带者（夏皮罗等人，1978年）。该检测基于在只有线粒体提供代谢能量的条件下，肾上腺素诱导的血小板聚集异常。我们对该检测进行了评估，发现了假阴性和假阳性结果，这引发了对该检测适用性以及潜在缺陷性质的质疑。对患者和携带者线粒体ATP再生的直接分析表明，线粒体能量产生受损，当糖酵解能量产生受到抑制时，不足以维持ATP稳态。同样异常的是，当血小板在无葡萄糖培养基中孵育时，用肾上腺素尤其是凝血酶刺激期间代谢ATP浓度的下降。这些数据为威斯科特-奥尔德里奇综合征患者和携带者血小板线粒体ATP再合成的调节缺陷提供了直接证据。
