Navigation Links
UTHealth, Swedish researchers uncover mystery in blot clotting disorder

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
University of Texas Health Science Center at Houston

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:
(Date:10/29/2015)... 29, 2015 Daon, a global leader in ... released a new version of its IdentityX Platform ... North America have already installed IdentityX v4.0 ... a FIDO UAF certified server component as ... activate FIDO features. These customers include some of the ...
(Date:10/29/2015)... YORK , Oct. 29, 2015 ... technology, announced a partnership with 2XU, a global ... to deliver a smart hat with advanced bio-sensing ... and other athletes to monitor key biometrics to ... the strategic partnership, the two companies will bring together ...
(Date:10/26/2015)... October 26, 2015 ... adds Biometrics Market Shares, ... as well as Emerging Biometrics Technologies: ... to its collection of IT and ... . --> ...
Breaking Biology News(10 mins):
(Date:11/27/2015)... (PRWEB) , ... November 27, 2015 , ... ... Program that includes over 2,000 technical presentations offered in symposia, oral sessions, ... and applied spectroscopy, covers a wide range of applications such as, but not ...
(Date:11/26/2015)... 26, 2015 --> ... in imaging technologies, announced today that it has received a ... the Horizon 2020 European Union Framework Programme for Research and ... trial in breast cancer. , --> ... --> --> The study aims to ...
(Date:11/25/2015)... 25, 2015 2 nouvelles études permettent ... les différences entre les souches bactériennes retrouvées dans la ... des êtres humains . Ces recherches  ouvrent une nouvelle ... prise en charge efficace de l,un des problèmes ... chats .    --> 2 nouvelles études ...
(Date:11/25/2015)... , Nov. 25, 2015  Neurocrine Biosciences, Inc. (Nasdaq: ... , President and CEO of Neurocrine Biosciences, will be ... in New York . ... the website approximately 5 minutes prior to the presentation ... of the presentation will be available on the website ...
Breaking Biology Technology: