Researchers Find Genetic Mutation Responsible for Vampirism

in #biology7 years ago

Here’s some bad news for Anne Rice. Rather than a rock star vampire, her next book may have to be an interview with a scientist who has proof that biological vampirism is not spread by neck bites but passed from generation to generation by a genetic mutation. What about Dracula? Does this mean that Vlad went bad because of his dad?

“People with erythropoietic protoporphyria 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.”
Dr. Barry Paw of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center knows what you’re thinking – that sounds like a description of a vampire. He specializes in porphyrias, a group of eight known blood disorders that affect the body’s ability to make heme, a key component of the critical oxygen-carrying blood protein hemoglobin as well as the reason why blood is red. One way of treating EPP, the most common porphyria, is regular blood transfusions and keeping the patient out of sunlight. Before the advent of transfusions, this was accomplished by drinking animal blood.

Dr. Paw knows what you’re thinking – that sounds even more like a description of a vampire. He agrees and speculates in a new a paper published in the Proceedings of the National Academy of Sciences (PNAS) that the childhood disease may have been the cause for the original vampire stories – at least the blood-drinking and avoiding sunlight parts. But how did these poor kids acquire this affliction … from that Transylvanian exchange student who was a known biter?

Of course, the main focus of the paper is on EEP itself. Paw and his team determined that a mysterious genetic defect prevents heme production and causes a buildup of a component called protoporphrin IX which, when exposed to even trace levels of light on the skin, causes the burning and redness that drives EPP suffers into the darkness. While studying a family in Northern France with multiple EPP suffers, they were able to identify a mutation of the gene CLPX which started the chain reaction leading to living like a vampire.

“Although vampires aren’t real, there is a real need for innovative therapies to improve the lives of people with porphyrias.”
Dr. Paw reminds everyone thinking of shunning EPP sufferers as vampires to remember that porphyrias is a genetic disorder and not contagious, even through a bite. He’d prefer that sufferers come forward so that he and his team can find a way to correct the genes and end porphyria in all of its forms.

Anne Rice, have you considered crime novels?

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