Navigation Links
UTHealth, Swedish researchers uncover mystery in blood clotting disorder
Date:8/27/2013

HOUSTON (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 Bjrn Dahlbӓck, M.D., Ph.D., from Lund University, Malm, 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 Dahlbck who holds the chair as professor of Blood Coagulation Research at Lund University, Malm, Sweden.

The results were published in today's online issue of the Journal of Clinical Investigation. Milewicz and Dahlbck are senior co-authors.

Genes make proteins that do everything from giving cells shape and structure to helping carry out biological processes. To make the proteins, genes go through a process called alternative splicing that creates coded portions, called exons. The researchers discovered that a mutation in exon 13 of the coagulation FV gene caused a short form of the protein due to changes in the splicing of the exons. That FV-Short protein was unexpectedly found to form a complex in blood with tissue factor pathway inhibitor (TFPI), a protein that inhibits coagulation of the blood. An overabundance of the combined FV-Short/TFPI in the bloodstream keeps the blood from clotting in the affected family members. Other researchers have been looking at ways to inhibit TFPI, which could lead to a treatment for this family's clotting disorder.

What Milewicz called traditional genetics and "old-fashioned biochemistry" by lead co-author Lisa Vincent, Ph.D., led to the discovery of the FV-short protein in the blood of affected family members.

Dahlbӓck's work determined how the FV-Short was causing the problems with clotting the blood. Milewicz said studying this family with a rare blood disorder has provided further insight into how the blood clots.

"We knew there was something wrong with these patients' FV, but proving it required discovering unique properties of FV in coagulation," Vincent said. "After many trials and tribulations, our true success is finally being able to provide an answer to the family about their medical issues."


'/>"/>

Contact: Deborah Lake
deborah.m.lake@uth.tmc.edu
713-500-3304
University of Texas Health Science Center at Houston
Source:Eurekalert

Related medicine news :

1. UTHealth, French researchers discover gene defect for new syndrome
2. Lifestyle changes could prevent 400 cardiac events and 200 deaths in Swedish PCI patients
3. Complementary and alternative medicine studied in Swedish surgical care
4. Feinstein Institute Scientist Wins Crafoord Award from Royal Swedish Academy of Sciences for Arthritis Research
5. Surgery is superior to radiotherapy in men with localized PCa, says prize-winning Swedish study
6. Swedish study suggests reduced risk of dementia
7. Extreme Birth Weights Tied to Autism in Swedish Study
8. NIH awards $20 million over 5 years to train next generation of global health researchers
9. Researchers develop a new cell and animal model of inflammatory breast cancer
10. Researchers uncover a viable way for colorectal cancer patients to overcome drug resistance
11. Researchers Find Gene Mutations That May Be a Key to Autism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/27/2017)... (PRWEB) , ... March 27, 2017 , ... ... the GTEC Orange facility from 8:00am-10:00am on Monday, April 3rd to commemorate the ... will be an opportunity for area-residents to celebrate two great years while also ...
(Date:3/27/2017)... ... March 27, 2017 , ... The homeowner improvement and repair market ... utilizing DIY and unlicensed contractors for renovations is also on the rise. Per a ... 2015, and of those, 42% failed to use a licensed contractor.(2) The risks associated ...
(Date:3/26/2017)... ... March 26, 2017 , ... ... the RealSelf 100 Award, a prestigious award honoring the top influencers on RealSelf—the ... find and connect with doctors and clinics. , In 2016, more than 82 ...
(Date:3/25/2017)... ... ... Norland at Swissray is pleased to announce the release of the ELITE DXA, a ... an active scan window, which is more than double that of existing bone densitometers. ... not undergo an accurate total body bone density or body composition study. The ...
(Date:3/24/2017)... ... March 24, 2017 , ... ... military at the same time by providing Prehospital Trauma Life Support (PHTLS) course ... the world’s premier prehospital trauma education developed in cooperation with the American College ...
Breaking Medicine News(10 mins):
(Date:3/27/2017)... , March 27, 2017  BERG, ... a data-driven, biological research approach, today announced ... to the discovery of new data using ... facilitate brown fat metabolism. Joslin Diabetes Center ... Interrogative Biology® platform for analysis of samples.  ...
(Date:3/27/2017)... -- Twist Bioscience, a company accelerating science and innovation through ... an additional $33 million. To date, Twist Bioscience has ... "It is an exciting time to be leading Twist ... deliver industry-leading gene volume to our customers, enabling innovative ... Ph.D., CEO of Twist Bioscience. "We welcome the additional ...
(Date:3/27/2017)... March 27, 2017 Arena Pharmaceuticals, Inc. ... developing novel, small molecule drugs across multiple therapeutic areas, today ... Executive Officer, will present a corporate update at the 16th ... ET.  The conference will take place April 4-5, 2017 at ... York , NY.  A live audio ...
Breaking Medicine Technology: