Quebec platelet disorder.

Abstract

Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with a unique gain-of-function defect in fibrinolysis. In the past 5 years, there have been important advances in the understanding of the pathogenesis of QPD, including its genetic cause, which is a copy number variation mutation of PLAU, the gene for urokinase plasminogen activator (uPA). QPD is the first bleeding disorder identified to be caused by a PLAU mutation and it is also the first bleeding disorder recognized to result from a gene copy number mutation. The molecular defect of QPD leads to marked overexpression of uPA during megakaryopoiesis, producing profibrinolytic platelets that contain active forms of uPA in their α-granules. This article summarizes expert opinions on the features of QPD and recent advances in the understanding of its pathogenesis and genetic cause.

• Authors: Catherine P M Hayward, Georges E Rivard
• Journal: Expert review of hematology (Expert Rev Hematol) Vol. 4 Issue 2 Pg. 137-41 (Apr 2011) ISSN: 1747-4094 [Electronic] England
• PMID: 21495923 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Urokinase-Type Plasminogen Activator

Topics

• Animals
• Disease Models, Animal
• Factor V Deficiency (diagnosis, genetics, pathology)
• Gene Dosage
• Hemorrhage
• Humans
• Mice
• Mice, Transgenic
• Mutation
• Thrombopoiesis
• Urokinase-Type Plasminogen Activator (genetics, metabolism)