Researchers may have identified the genetic mutation that underlines the blood disorder possibly behind the creation of vampire myths.

Erythropoietic protoporphyria (EPP), the most common form of porphyria, affects the body’s ability to produce heme resulting in a buildup of protoporphyrin components. These patients are often chronically anemic and their skin can become very sensitive to light. “Even on a cloudy day, there’s enough ultraviolet light to cause blistering and disfigurement of the exposed body parts, ears and nose,” said Barry Paw, MD, PhD, co-senior author of new research into the condition.

Symptoms of the condition can be alleviated somewhat through blood transfusions. In more primitive times, people may have consumed animal blood and would have avoided sun light, so it’s not too hard to see how the condition may have given rise to vampires folk tales. 

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Dr. Paw and his team – from Boston Children’s Hospital – conducted deep gene sequencing on a family in France with EPP of unknown genetic signature. They found a novel mutation of the gene CLPX, which plays a role in mitochondrial protein folding. “This newly-discovered mutation really highlights the complex genetic network that underpins heme metabolism,” said Dr. Paw. 

With the discovery of this novel mutation, researchers hope new treatments can be developed to correct the genes responsible for these disorders.

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