Researchers and have identified a genetic mutation that may be responsible for vampire folklore.
A newly discovered genetic mutation triggers erythropoietic protoporphyria (EPP), a novel biological mechanism potentially responsible for stories of ‘vampires.’
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 colour.
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.
A clinical cause for drinking blood?
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.
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
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.
“This newly-discovered mutation really highlights the complex genetic network that underpins heme metabolism,” says Paw, who was co-senior author on the study. “Loss-of-function mutations in any number of genes that are part of this network can result in devastating, disfiguring disorders.”
Paw suggests that identifying the various gene mutations that contribute to porphyria could pave the way for future therapies that could correct the faulty genes responsible for these related disorders.
“Although vampires aren’t real, there is a real need for innovative therapies to improve the lives of people with porphyrias,” says Paw.
Source: Boston Children’s Hospital via www.sciencedaily.com
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