Researchers from University of Rochester Medical Centre have made subtle changes in the structure of a key protein that may help in developing new treatments for hemophilia, an inherited blood disorder.
Hemophilia is caused by a lack of a protein, factor VIII, one of several proteins in a chain reaction that enables blood to solidify, or clot, to plug wounds after injury.By making subtle changes in the protein, the researchers have been able to dramatically increase its ability to drive blood clotting.
Current preventive treatment consists of genetically engineered factor VIII administered by injection, but one quarter of those born with no factor VIII suffer severe immune reactions that render the treatment inactive. In addition, current treatment costs as much as 200,000 dollars per patient per year.
The team led by Philip Fay, Ph.D., professor in the Department of Biochemistry and Biophysics at the University of Rochester Medical Centre has identified key amino acids with the potential, if replaced, to change the performance of entire protein.
"Our goal is to improve upon nature by developing gain-of-function factor VIII proteins that are superior to the version of the protein found in healthy individuals," Fay said.
"These more potent forms are not likely to occur naturally since they would theoretically result in excessive clotting, blocked arteries and heart attacks in otherwise healthy people.
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World Hemophilia Day: 'Count Me In'
The World Hemophilia Day is celebrated on 17 April every year. This year’s theme is ‘Count Me In.’ Hemophilia is a hereditary bleeding disorder preventing blood from clotting.
The World Hemophilia Day is celebrated on 17 April every year. This year’s theme is ‘Count Me In.’ Hemophilia is a hereditary bleeding disorder preventing blood from clotting.
The study is published in Journal of Thrombosis and Hemostasis.
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Slide animation providing comprehensive explanation about Blood Groups, Blood Typing and Blood Donation.
Slide animation providing comprehensive explanation about Blood Groups, Blood Typing and Blood Donation.
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