Radford University in Georgia, which has won the prestigious Nobel Prize in Physiology or Medicine, has found evidence that the mutation responsible for blood clots has a genetic component.
The research, which was published online this week in the Journal of Clinical Investigation, was led by Dr. Peter Fink, the university’s vice president for research and a professor of biomedical engineering.
Fink and his colleagues identified mutations in a gene called RbP2 that codes for a protein that controls clotting.
The researchers have identified another mutation in the same gene called Cxr1 that controls the clotting process.
Both of these mutations are known to be associated with blood clotting, but the RbT gene was not previously associated with clotting in humans.
The new research was conducted by Fink’s team using a method called bioinformatics to identify the mutations that were causing the clots in the blood.
“We have identified the genetic mutations associated with the clot-forming mechanism, and the mutation associated with that mechanism is the RtC1 mutation,” Fink said in a news release.
“The mutation has a clear impact on clotting.”
The research also has implications for patients who are being treated with blood thinners that use a specific drug, which are called thrombin inhibitors.
The drug contains a protein called RtF.
When RtB is removed from the body, it turns into RtT and clots.
Fisk, who is also a professor in the university medical school, said the discovery of RtP2 and RtL1, two other mutations that cause clots, may provide a tool to help doctors predict clotting and other medical conditions that might trigger clotting, and potentially help those who are already taking clot-busters.
Finks team also found that the RtsA2 mutation, which is associated with low-density lipoprotein (LDL), is associated to higher risk of developing blood clumps in older patients.
FINK and his team also noted that the blood clottier patients who were also taking thrombins had a lower risk of dying from blood clumping.
“There are many patients who may be better off with blood clot removal than they are with thrombenying,” Fisk said.
Fisks work to advance medical knowledge and technology in the area of biomedical research, he added.
“It’s important to recognize that our work is still in its early stages and we have many more studies to do,” Finks said.
The work is part of an ongoing effort by the university to develop a method to diagnose blood clogged arteries.
Fitzgerald University Medical Center in Arizona is developing a new way to identify blood clotted arteries, called a flow-through cardiogram, which will also be part of the new clinical trial.