Vampires were often portrayed in movies as someone who has a pale skin and extreme fear of the sun. The very existence of vampires has been branded as a work of fiction. Though it might be impossible to pinpoint the exact origin of the different myths about a vampire, a team of international investigators found biological mechanisms that can potentially explain the origin of the Vampire Folklore.

Their findings, published in the journal Proceedings of the National Academy of Sciences, showed that a certain kind of genetic variation of blood disorder known as porphyrias can produce symptoms that typically described in the most common understanding of vampires.

Genetic mutations responsible for “vampires” pale skin, fear of sun and need for blood

One of the most common kinds of Porphyria that occur in childhood is the so-called Erythropoietic protoporphyria (EPP). People with EPP suffer from chronic anemia. Due to this, they appear to be very tired and look very pale. EPP can also induce photosensitivity. Being exposed to light for a long period of time can cause severe and disfiguring blisters. The researchers noted that the ultraviolet light during a cloudy day is enough to cause blisters and disfigurement of the exposed body parts.

EPP, like other kinds of porphyria, negatively affects the body’s ability to make heme. Considered to be one of the components of hemoglobin, heme binds with iron to produce the blood’s red color.

Due to their inability to produce sufficient amount of heme, people with EPP need to receive blood transfusions to relieve some of their symptoms.

Basically, people with EPP prefer to stay indoors during the day and regularly consumes blood. Blood transfusions are not yet available during the ancient times. Because of this, people may have opted for animal blood.

These symptoms, in addition to blood consumption, could be responsible for the vampire folklore.

Deep gene-sequencing reveals previously unknown signature of EPP

The decreased production of heme caused by EPP could lead to the buildup of a protoporphyrin component, known as protoporphyrin IX, in the red blood cells, plasma, and liver.

Protoporphyrin IX is responsible for the EPP’s photosensitivity. When exposed to light, protoporphyrin IX produces chemicals capable of damaging nearby cells.

So far, scientists have described some of the genetic pathways leading to protoporphyrin IX build up. However, there are still many unexplained cases of EPP. Due to this, the team decided to perform deep gene sequencing on members of a family with EPP. Their gene sequencing revealed a previously unknown signature of EPP. The team found a novel mutation of the gene CLPX, which is crucial in mitochondrial protein folding.

The researchers noted that it is important to identify various gene mutations that contribute to porphyria. By describing the different gene mutations at play, scientists could develop future therapies that can potentially correct the faulty genes.