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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. 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.

It illuminates a novel biological mechanism potentially responsible for stories of " vampires" and identifies a potential therapeutic target for treating EPP. To produce heme, the body goes through a process called porphyrin synthesis, which mainly occurs in the liver and bone marrow. Any genetic defects that impact this process can interrupt the body's ability to produce heme; the decreased heme production leads to a buildup of protoporphyrin components.

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In the case of EPP, type of protoporphyrin called protoporphrin IX accumulates in the red blood cells, plasma and sometimes the liver. When protoporphin IX is exposed to light, it produces chemicals that damage surrounding cells.

As a result, people with EPP experience swelling, burning and redness of the skin after exposure to sunlight -- even trace amounts of sunlight that pass through window glass. Some genetic pathways leading to build-up of protoporphyrin IX have already been described, but many cases of EPP remain unexplained.

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By performing deep gene sequencing on members of a family from Northern France with EPP of a previously unknown genetic signature, Paw's team discovered a novel mutation of the gene CLPX, which plays a role in mitochondrial protein folding. 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.

Materials provided by Boston Children's Hospital. Note: Content may be edited for style and length.

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Science News. From national best selling author Tawny Taylor, a story of passion, intrigue, romance and dark erotic hunger First Love Or First Bite? Although Sophie Hahn works as a paranormal researcher, she doesn't believe in ghosts, werewolves, or anything to do with the supernatural world.

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