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.
Key words
Wiskott-Aldrich syndrome - Energy - Platelets - Hexokinase - ATP
