Investigation of a gene associated with unwanted blood clots

Summary

Problem:
Unwanted blood clots can block the flow of blood in both veins and arteries, and depending on where the blockage is located, can lead to serious effects on health such as a stroke or heart attack. Treatment of these diseases often uses medicines referred to as ‘blood thinners’. These medicines work well but they have risks because they sometimes cause too much bleeding for the patient. This project is exploring
changes in our DNA, called ‘mutations’, that may have an effect on how blood clots form. We often think of these mutations as being bad for our health but sometimes they can have a good or ‘protective’ effect. We expect that some of the mutations in a gene called PTPRJ may have a protective effect against unwanted clot formation.

Method:
To investigate these questions, we will select participants from the NIHR Bioresource based on the sequence of their genes or DNA. Some participants will have the mutations we are interested in and others, for comparison purposes, will not. With the participant’s permission, we will take a small blood sample, flow it through small tubes designed to resemble a blood vessel and measure the size of the clot that forms and how long the process takes.

Relevance:
The project is relevant to treatment of treatment of several diseases associated with unwanted clot formation, also called ‘thrombosis’ which affect a lot of people.

Benefit to patients and impact:
Getting a clearer understanding of these protective mutations may help us find better treatments that don’t have unwanted effects.