Navigation Links
UTHealth, Swedish researchers uncover mystery in blot 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 biology news :

1. Leisure boats threaten the Swedish West Coast archipelago
2. The IPCC Report on Climate Change - Swedish professor Thomas Sterner selected as 1 of the experts
3. Swedish research useful to Brazilian society, presented by Lund University in São Paulo on 5 Dec. 2012
4. Study by UC Santa Barbara researchers suggests that bacteria communicate by touch
5. UC Santa Barbara researchers discover genetic link between visual pathways of hydras and humans
6. Researchers attempt to solve problems of antibiotic resistance and bee deaths in one
7. UNH researchers find African farmers need better climate change data to improve farming practices
8. Ottawa researchers to lead world-first clinical trial of stem cell therapy for septic shock
9. Researchers uncover molecular pathway through which common yeast becomes fungal pathogen
10. Researchers print live cells with a standard inkjet printer
11. Columbia Engineering and Penn researchers increase speed of single-molecule measurements
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/14/2016)... 14, 2016  xG Technology, Inc. ("xG" or the ... wireless communications for use in challenging operating environments, announced ... 2016. Management will hold a conference call to discuss ... Eastern Time (details below). Key Recent Accomplishments ... million binding agreement to acquire Vislink Communication Systems. The ...
(Date:6/27/2016)... Research and Markets has announced the addition of the "Biometrics ... The report forecasts the biometrics market ... CAGR of 12.28% during the period 2016-2020. The ... inputs from industry experts. The report covers the market landscape and ... a discussion of the key vendors operating in this market. ...
(Date:6/22/2016)... 2016   Acuant , the leading ... has partnered with RightCrowd ® to ... Management, Self-Service Kiosks and Continuous Workforce Assurance. ... functional enhancements to existing physical access control ... with an automated ID verification and authentication ...
Breaking Biology News(10 mins):
(Date:12/2/2016)... ... December 01, 2016 , ... ... systems for North American hospitals, will present its chain-of-custody solution for tracking and ... in Las Vegas, Nev., Dec. 4-8, 2016. , Aerocom has a proven solution ...
(Date:12/2/2016)... ... December 01, 2016 , ... The Conference Forum has ... three days and will take place on February 1-3, 2017 at the Roosevelt Hotel ... Gulley (NCI), the program provides a unique 360-degree approach, which addresses the most up-to-date ...
(Date:12/2/2016)... ... 01, 2016 , ... Orthogonal, a Chicago-based medical device software ... II 510(k) clearance for their flagship medical device, SimplECG. , With this FDA ... that rely on cloth-based nanosensors. While other companies have attempted to focus on ...
(Date:12/2/2016)... ... 2016 , ... Robots will storm the Prudential Center in Boston, MA during ... which is held on the United Nations International Day of Persons with Disabilities, will ... workplace. Suitable Technologies is partnering with NTI to showcase how technology can help individuals ...
Breaking Biology Technology: