Mystery in blot clotting disorder solved

Aug. 27, 2013 — Fifteen years ago, a hematologist came to Dianna Milewicz, M.D., Ph.D., with a puzzle: Multiple generations of an East Texas family suffered from a moderately severe bleeding disorder, but it wasn’t hemophilia.”No surgeon would do elective surgery because they bled too much after surgery,” said Milewicz, professor and director of the Division of Medical Genetics at The University of Texas Health Science Center at Houston (UTHealth). “So we collected DNA and plasma from the family and were able to determine that a genetic variant in the Factor V gene was causing production of an abnormal form of the Factor V protein, which we called FV-Short. Factor V is a protein known to be important for the blood to clot.”But her team at the UTHealth Medical School couldn’t pinpoint exactly how the variation was causing the clotting problem until they collaborated with Björn Dahlbӓck, M.D., Ph.D., from Lund University, Malmö, Sweden.”Dr. Dahlbӓck is a world expert on Factor V and he was very excited about the research,” said Milewicz, who holds the President George H.W. Bush Chair in Cardiovascular Research. She is also on the faculty of The University of Texas Graduate School of Biomedical Sciences and director of the John Ritter Research Program in Aortic and Vascular Diseases at UTHealth.”I was indeed very excited when hearing about the puzzling results because the knowledge at the time on the role of FV in coagulation could not explain the bleeding disorder. It has been a great privilege to work with Dr. Milewicz and her colleagues to decode the unexpected and intriguing mechanisms on how FV-Short caused the bleeding disorder,” said Dahlbäck who holds the chair as professor of Blood Coagulation Research at Lund University, Malmö, Sweden.The results were published in today’s online issue of the Journal of Clinical Investigation. Milewicz and Dahlbäck are senior co-authors.Genes make proteins that do everything from giving cells shape and structure to helping carry out biological processes. …

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