TY - JOUR
T1 - WISKOTT-ALDRICH SYNDROME
T2 - DETECTION OF CARRIER STATE BY METABOLIC STRESS OF PLATELETS
AU - Shapiro, Ralph S.
AU - Perry, Guy S.
AU - Krivit, William
AU - Gerrard, Jonathan M.
AU - White, James G.
AU - Kersey, John H.
N1 - Funding Information:
This study was supported by the U.S. Public Health Service and the Leukemia Task Force.
PY - 1978/1/21
Y1 - 1978/1/21
N2 - A stress test has been designed which shows a consistent abnormality in platelets from carriers of the Wiskott-Aldrich-syndrome (W.A.S.) gene. 2-deoxy-D-glucose (D.D.G.), an inhibitor of glycolysis, completely inhibited second-wave adrenaline (epinephrine)-induced aggregation of platelets from 10 W.A.S. carriers, whereas it had no effect on the response of control platelets. Antimycin A (Ant A), an inhibitor of oxidative phosphorylation, had no effect on adrenaline-induced platelet aggregation of either carriers or controls. Incubation of control platelets with a combination of Ant A and D.D.G. inhibited aggregation in a way comparable to the effect of D.D.G. alone on carrier cells. Thus, W.A.S. carriers have a defect in platelet metabolism similar to that produced in normal platelets with Ant A. The D.D.G. stress test is a simple reproducible assay for detection of W.A.S. carriers.
AB - A stress test has been designed which shows a consistent abnormality in platelets from carriers of the Wiskott-Aldrich-syndrome (W.A.S.) gene. 2-deoxy-D-glucose (D.D.G.), an inhibitor of glycolysis, completely inhibited second-wave adrenaline (epinephrine)-induced aggregation of platelets from 10 W.A.S. carriers, whereas it had no effect on the response of control platelets. Antimycin A (Ant A), an inhibitor of oxidative phosphorylation, had no effect on adrenaline-induced platelet aggregation of either carriers or controls. Incubation of control platelets with a combination of Ant A and D.D.G. inhibited aggregation in a way comparable to the effect of D.D.G. alone on carrier cells. Thus, W.A.S. carriers have a defect in platelet metabolism similar to that produced in normal platelets with Ant A. The D.D.G. stress test is a simple reproducible assay for detection of W.A.S. carriers.
UR - http://www.scopus.com/inward/record.url?scp=0017813275&partnerID=8YFLogxK
U2 - 10.1016/S0140-6736(78)90419-1
DO - 10.1016/S0140-6736(78)90419-1
M3 - Article
C2 - 87553
AN - SCOPUS:0017813275
SN - 0140-6736
VL - 311
SP - 121
EP - 123
JO - The Lancet
JF - The Lancet
IS - 8056
ER -