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Archive - Sep 8, 2017

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Vampire Folklore May Have Had Roots in Real People with Genetic Mutation That Causes Blood Disorder

Porphyrias, a group of eight known blood disorders, affect the body's molecular machinery for making heme, which is a component of the oxygen-transporting protein, hemoglobin. When heme binds with iron, it gives blood its hallmark red color. The different genetic variations that affect heme production give rise to different clinical presentations of porphyria -- including one form that may be responsible for vampire folklore. Erythropoietic protoporphyria (EPP), the most common kind of porphyria to occur in childhood, causes people's skin to become very sensitive to light. Prolonged exposure to sunshine can cause painful, disfiguring blisters. "People with EPP are chronically anemic, which makes them feel very tired and look very pale with increased photosensitivity because they can't come out in the daylight," says Barry Paw MD, PhD, of the Dana-Farber/Boston Children's Cancer and Blood Disorders Center. "Even on a cloudy day, there's enough ultraviolet light to cause blistering and disfigurement of the exposed body parts, ears, and nose." Staying indoors during the day and receiving blood transfusions containing sufficient heme levels can help alleviate some of the disorder's symptoms. In ancient times, drinking animal blood and emerging only at night may have achieved a similar effect -- adding further fuel to the legend of vampires. Now, Dr. Paw and his team of international investigators report -- in a paper published online on September 5, 2017 in PNAS -- a newly discovered genetic mutation that triggers EPP. It illuminates a novel biological mechanism potentially responsible for stories of " vampires" and identifies a potential therapeutic target for treating EPP.

Researchers Report Successful Tranplants of Islets Cells into Muscle; Possible New Approach to Treatment of Type 1 Diabetes

Patients suffering from type 1 diabetes may soon have access to improved approaches to treat the disease, courtesy of new research out of Sydney, Australia’s Westmead Institute for Medical Research. A team of researchers, led by Professor Jenny Gunton, discovered that pancreatic islets transplants delivered into the quadriceps muscle work just as successfully as the current clinical practice of transplanting islets into a patient's liver via the portal vein. Lead researcher Ms. Rebecca Stokes said that transplants into the liver can present certain risks for the patient, so their research investigated safer and more beneficial treatment options for transplant recipients. "Islets are cells in the pancreas that produce insulin," Ms Stokes explained. "Pancreatic islet transplantation is used as a cure for type 1 diabetes as it allows the recipient to produce and regulate insulin after their own islet cells have been destroyed by the disease. Currently, islet transplants are infused into a patient's liver via the portal vein. This site is used for islet transplants due to its exposure to both nutrients and insulin in the body. However, islet infusion into the liver also presents certain risks for the patient, including potential complications from bleeding, blood clots and portal hypertension. This suggests that there may be better treatment options for patients receiving islet transplants. We investigated alternative transplantation sites for human and mouse islets in recipient mice, comparing the portal vein with quadriceps muscle and kidney, liver and spleen capsules.