'We have the first realistic insight into how a switch linked to blood-clotting, and therefore connected to strokes and heart-attacks, is operated' - lead researcher Richard Evans. Scientists investigating a 'biochemical switch' linked to strokes and heart disease claim to have made an advance in understanding how it is 'turned on'. The breakthrough is announced in the prestigious science journal Proceedings of the National Academy of Sciences. The work was led by a team at the University of Leicester, working in collaboration with Cardiff University, to investigate the 'biochemical switch' identified as the P2X1 receptor. It was funded by the Wellcome Trust and the British Heart Foundation. Lead researcher Professor Richard Evans, of the University of Leicester Department of Cell Physiology & Pharmacology, said: "P2X1 receptors are protein molecules expressed on blood platelets which are cells involved in blood clotting.
Researchers, led by scientists from Johns Hopkins, have found five previously unknown gene mutations believed to be associated with elevated blood platelet counts in African-Americans, findings they say could someday lead to the development of new drugs to help prevent coronary artery disease. The study is believed to be the first of its size to focus on platelet genetics in African Americans, who have a higher risk of stroke than other racial groups. They also have relatively higher platelet counts and average platelet volume, and worse outcomes than whites after a heart attack. "Improving our understanding of the biology and genetics of platelets and how they function will aid us in developing better treatments and more individualized treatments to reduce risk of heart disease associated with platelets, " says study leader Rehan Qayyum, M.
Walter and Eliza Hall Institute scientists have revealed new details about how cell signalling is controlled in the immune system, identifying in the process potential new therapeutic targets for treating severe blood disorders. Dr Jeff Babon and Professor Nick Nicola, from the institute's Structural Biology and Cancer and Haematology divisions respectively, study interactions between internal cell signalling proteins called JAKs (Janus kinases) and SOCS (Suppressors of Cytokine Signalling). Dr Babon said the proteins were essential for blood system maintenance and immune responses. "JAK proteins are activated in response to blood cell hormones called cytokines and instruct immune cells to respond to infection and inflammation, " Dr Babon said. "SOCS proteins were discovered at the institute in the early 2000s, and provide a necessary 'negative feedback' response that stops JAKs becoming overactive, which can lead to disease.
New Technology May Help Predict When Patients Are At Risk For Serious Complications In Sickle Cell Disease
More than 60 years ago, scientists discovered the underlying cause of sickle cell disease: People with the disorder produce crescent-shaped red blood cells that clog capillaries instead of flowing smoothly, like ordinary, disc-shaped red blood cells do. This can cause severe pain, major organ damage and a significantly shortened lifespan. Researchers later found that the disease results from a single mutation in the hemoglobin protein, and realized that the sickle shape - seen more often in people from tropical climates - is actually an evolutionary adaptation that can help protect against malaria. However, despite everything scientists have learned about the disease, which affects 13 million people worldwide, there are few treatments available. "We still don't have effective enough therapies and we don't have a good feel for how the disease manifests itself differently in different people, " says Sangeeta Bhatia, the John and Dorothy Wilson Professor of Health Sciences and Technology and Electrical Engineering and Computer Science at MIT.
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that allows prenatal diagnosis and genetic counselling in affected families. The team used genetic sequencing to discover that TAR results from low levels of the protein called Y14. They found that the syndrome occurs by a unique inherited mechanism. Platelets are the second most abundant cell in the blood. Their main task is to survey the blood vessel wall for damage and to plug and repair it where required. Some people are born with low numbers of platelets and these rare conditions are thought to be inherited. TAR syndrome combines the unique features of low platelet count and prominent bleeding, especially in infancy, and skeletal abnormalities affecting the upper limb ranging from absence of the radial bone in the forearm to virtually total absence of upper limb.