Researchers have shown how a specific protein (Schlafen-14) does not function properly in some patients with thrombocytopenia.
Researchers have discovered how changes in a specific protein cause some people to have low platelet numbers and bleed too much, in a new study published in the Journal of Clinical Investigation. The study featured on the front cover of the bi-monthly issue.
Researchers from the University of Birmingham, in collaboration with researchers from University Hospital Wurzburg and NYU Grossman School of Medicine, carried out a study in which they investigated how mutations in a specific protein, called Schlafen-14, could affect platelet number and bleeding.
The study identified the mechanisms of how low numbers of platelets and platelets that are faulty create bleeding in humans. The project was funded by the British Heart Foundation and the National Institutes of Health.
This research is 10 years in the making and truly a team effort by individuals past and present.
The study found that the Schlafen-14 protein doesn’t function properly in people with thrombocytopenia. The mutations in this protein cause low platelet numbers in the blood and affects their quality, as the platelets do not signal properly, contributing to increased bleeding.
Neil Morgan, Professor of Cardiovascular Genetics at the University of Birmingham, said: “We are delighted to publish our research findings in The Journal of Clinical Investigation. We show the mechanism of bleeding and platelet dysfunction in SLFN14-related thrombocytopenia.”
Platelets are tiny cells in the blood, which help it clot and stop bleeding when someone is hurt. There are some medicines which help prevent dangerous blood clots, that could cause heart attacks and strokes, which work by stopping platelets from clumping together.
However, when a person has fewer platelets than normal, a condition called thrombocytopenia, they can bleed more easily and may have trouble stopping bleeding. In addition, some platelets are unable to function properly to carry out their normal tasks, such as in creating clots as well as roles in inflammation, immunity, and tissue regeneration.
This discovery furthers understanding into why some people have platelet problems and bleed too much. Researchers hope that the findings could additionally lead to better targeted treatments for patients with thrombocytopenia and platelet dysfunction in the future.
Professor of Cardiovascular Genetics
Staff profile for Professor Neil Morgan, Professor of Cardiovascular Genetics, at the Department of Cardiovascular Sciences, College of Medicine and Health, University of Birmingham.
