Researchers recently discovered a genetic mutation that causes the rare blood disorder known as porphyria. This discovery may help explain how folk tales about vampires originated.
Porphyria is a group of eight blood disorders that affect the body’s ability to make the molecule called heme. (Heme binds iron in hemoglobin, which carries oxygen from the lungs into the blood. And when heme binds with iron, it gives blood its characteristic crimson red color.)
Turns out, genetic variations affect heme production and give rise to the different clinical manifestations of porphyria.
One kind of porphyria (Erythropoietic protoporphyria or EPP) is the most common to occur in childhood. It causes the skin to be very sensitive to light. And exposure to strong sunlight can cause painful, disfiguring skin blisters.
These victims can’t come out in the daylight or even be near windows. Even on a cloudy day, there’s enough ultraviolet light penetrating through the atmosphere to cause blistering and disfigurement of the ears, nose and other exposed body parts. Victims of this blood disorder are also anemic, making them feel very tired and look very pale.
Staying indoors during the day and receiving blood transfusions containing sufficient levels of heme help to alleviate symptoms.
During historic times, drinking blood from animals and coming out only at night may have achieved therapeutic benefits for those suffering from these disorders. And it may have given rise to legends of vampires.
In order to produce heme normally, the body goes through a process called porphyrin synthesis — primarily in the liver and bone marrow (the same sites that produce blood cells).
Some of the genetic pathways leading to this problem had been explored before, but the new gene sequencing research helps interpret some “unexplained” cases of “vampirism” in a family from Northern France.
Actually, it goes back to “unfolded protein response,” as I explained in a Daily Dispatch earlier this year. Improper protein folding is the single-most important molecular finding relating to aging (beyond the telomere caps I’ve also mentioned before). Perhaps they found the real secret of not aging, as another component of the vampire legend?
Of course, we’ve been told for decades now that genetic technologies would lead to actual genetic therapies. And we are indeed learning more about how rare, novel disorders — such as porphyria — develop. But we’re still awaiting gene therapies for common medical conditions.
So — I can add the folklore about vampires to my “legends of the Fall” series. I could also include the myth that high-tech, biotech genetics will lead to actual therapies for anything…because I’ve yet to see one real, useful therapeutic advance come from molecular genetics and so-called “gene therapy.”
Nevertheless, year after year, decade after decade, high-tech, biotech mavens keep sucking up more and more taxpayer funding and investor dollars. Perhaps, it’s something to think about this weekend…
Who are the real vampires in 2017?
“Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria,” Proceedings of the National Academy of Sciences 2017; 114(38): E8045–E8052