Vampires may have been real people with a blood disorder
Washington D.C. [U.S.A], Sept. 07 : The folklore of Vampires has been inspiring a lot of horror stories for hundreds of years and continues to be a hit in Hollywood.
Today, erythropoietic protoporphyria (EPP) remains rare but is better understood as a genetic mutation that affects oxygen in the blood and makes sufferers allergic to the sun.
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 hemglobin binds with iron, it gives blood its hallmark red color.
"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. 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, of the Dana-Farber/Boston Children's Cancer and Blood Disorders Center.
Now, Paw and his team of international investigators report 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.
To produce hemoglobin, 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.
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. 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.
"This newly-discovered mutation really highlights the complex genetic network that underpins heme metabolism.Loss-of-function mutations in any number of genes that are part of this network can result in devastating, disfiguring disorders," noted Paw, who was co-senior author on the study.
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," concluded Paw.