Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of Sitosterolemia Running head: Phytosterols affect platelet structure/function
نویسندگان
چکیده
Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI 53226 Dept. of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226 Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI 53226 Clement J. Zablocki Veterans Affairs Medical Center, Division of Endocrinology, Metabolism, and Clinical Nutrition, Pharmacology and Cellular Biology The Cardiovascular Research Center, Medical College of Wisconsin Milwaukee, WI 53226, United States.
منابع مشابه
Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia.
Sitosterolemia is a rare, autosomal recessive disease caused by mutations in the adenosine triphosphate-binding cassette transporter genes ABCG5 or ABCG8 that result in accumulation of xenosterols in the body. Clinical manifestations include tendon xanthomas, premature coronary artery disease, hemolytic anemia, macrothrombocytopenia, and bleeding. Although the effect of sterol accumulation on t...
متن کاملPlant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia.
Mutations in either ABCG5 or ABCG8 cause sitosterolemia, an inborn error of metabolism characterized by high plasma plant sterol concentrations. Recently, macrothrombocytopenia was described in a number of sitosterolemia patients, linking hematological dysfunction to disturbed sterol metabolism. Here, we demonstrate that macrothrombocytopenia is an intrinsic feature of murine sitosterolemia. Ab...
متن کاملSitosterolemia: platelets on high-sterol diet.
S itosterolemia is a rare inherited lipid metabolic disorder characterized by the presence of xanthomas, premature coronary artery disease, and atherosclerotic disease. The hallmark of sitosterolemia is diagnostically elevated plasma levels of dietary plant sterols (eg, sitosterol), which is found in high concentrations in olives, avocados, and pecan nuts. Sitosterolemia is caused by mutations ...
متن کاملThe mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia.
The spontaneous mouse mutation "thrombocytopenia and cardiomyopathy" (trac) causes macrothrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, cardiomyopathy, and shortened life span. Homozygotes show a 20-fold decrease in platelet numbers and a 3-fold increase in platelet size with structural alterations and functional impairments in activation and aggregation. Megakaryoc...
متن کاملTHROMBOSIS AND HEMOSTASIS The mouse mutation “thrombocytopenia and cardiomyopathy” (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia
The spontaneous mouse mutation “thrombocytopenia and cardiomyopathy” (trac) causes macrothrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, cardiomyopathy, and shortened life span. Homozygotes show a 20-fold decrease in platelet numbers and a 3-fold increase in platelet size with structural alterations and functional impairments in activation and aggregation. Megakaryoc...
متن کامل