Qualitative platelet 12-lipoxygenase abnormality in a patient with essential thrombocythemia

Thromb Haemost. 1997 Feb;77(2):294-7.

Abstract

Quantitative platelet 12-lipoxygenase (12-LOX) deficiency has been reported in some patients with myeloproliferative disorders (MPD). We report here for the first time a novel qualitative abnormality of the 12-LOX enzyme of platelets from a patient with essential thrombocythemia. The anti-12-LOX immunoprecipitates from the patient's platelet homogenates showed a deficiency of 12-LOX activity, but contained normal amount of 12-LOX protein. There was no difference in subcellular localization of the enzyme between the patient's platelets and normal ones. This 12-LOX protein lacking its enzyme activity showed slightly larger electrophoretic mobility than normal one, suggesting a molecular abnormality of the enzyme. However, we could not detect any genetic mutation causing such abnormalities in all exons of 12-LOX gene by sequencing the patient's PCR-amplified DNA. Thus, our results indicate that the deficient activity of this abnormal 12-LOX protein is probably due to a posttranslational modification, and the possibility that platelets of some MPD patients have qualitative abnormality of the 12-LOX enzyme besides quantitative ones.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 12-Hydroxy-5,8,10,14-eicosatetraenoic Acid / biosynthesis
  • Arachidonate 12-Lipoxygenase / blood*
  • Arachidonate 12-Lipoxygenase / deficiency
  • Arachidonic Acid / metabolism
  • Blood Platelets / enzymology*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / enzymology
  • Polycythemia Vera / enzymology
  • Polymerase Chain Reaction
  • Protein Processing, Post-Translational
  • Thrombocythemia, Essential / enzymology*

Substances

  • Arachidonic Acid
  • 12-Hydroxy-5,8,10,14-eicosatetraenoic Acid
  • Arachidonate 12-Lipoxygenase