Myths vs Reality #1 Vampires/Werewolves… Is there any scientific explanation?
Physiological / biochemical explanation
Dracula is usually described as a man with pointed ears, sharp teeth (with blood sometimes), and hair on his palms, who hides somewhere during the daylight and needs blood.
(image source – Public domain, from Wikipedia)
Oxygen is carried in blood by heme which is a component of haemoglobin (Hb).
Heme is synthesized in eight steps (at each step a special enzyme is used) in the mitochondria and cytosol of the liver cells (hepatocytes) and developing red cells in the marrow. This process could be illustrated like this
Oxygen is carried in blood by heme which is a component of haemoglobin (Hb).
Heme is synthesized in eight steps (at each step a special enzyme is used) in the mitochondria and cytosol of the liver cells (hepatocytes) and developing red cells in the marrow. This process could be illustrated like this
(The image above was created by me and goes into Public domain)
(Substrates are denoted by gold stars (and orange rhombuses), enzymes by brown lightnings. At the end of the eighth step heme is produced by combining Protoporphyrin IX with Fe2+ ions. Then it is transported out of the mitochondrion to the cytosol where it’s combined with globin protein chains. Fourth step is catalyzed by Uroporphyrinogen-III Synthase (purple arrow))
What we are interested in is that fourth step catalyzed by the enzyme Uroporphyrinogen-III Synthase (or URO3S), where the substrate hydroxymethylbilane (or HMB) turns into Uroporphyrinogen III (or URO'GEN III; it’s highlighted with the help of blue oval) [1].
(The image above was created by me and goes into Public domain)
This happens in most of the human population, but in some rare cases (less than 1 in 1,000,000) different mutations of the URO3S gene (which is located at 10q25.2–26.3 chromosome) can happen [2]. This leads to a condition called congenital erythropoietic porphyria (CEP, or Gunthers disease). One study shows, however, that CEP can be also caused by GATA1 mutations (transcription factor) rather than URO3S mutations [3].
That word “Porphyria” originates from the root for “purple” in Greek and was given by German student Schultz in 1874.[4]
The abnormal enzyme is unable to catalyze HMB properly which leads to its spontaneous cyclization that results in Uroporphyrinogen I (URO'GEN I; look at the blue semicircle again) production. This URO'GEN I cannot be converted into heme properly.
(The image above was created by me and goes into Public domain)
As a result uroporphyrin I (URO I) accumulates in erythrocytes. This leads to skin photosensitivity, hence skin wounds in patients. However, the above situation doesn’t mean that the normal URO3S doesn’t exist in those patients at all. But that normal URO3S activity is reduced drastically in most CEP patients [5].
Abnormal toxic substrates accumulation happens in different tissues (skin, teeth, liver, bone marrow), urine, and feces, and leads to a wide range of symptoms which include photosensitivity (porphyrins are fluorescent molecules; so those “vampires” need to hide from the sun and wear protective clothing), skin wounds, red urine, fluorescent teeth, thicker than normal skin, erythrodontia (teeth become reddish), disgust to garlic, wish to drink blood [4].
And there might be loss of eyelashes and eyebrows, hypertrichosis (excess amount of hair) on the limbs, back, and face (aka ”werewolf syndrome”) [7].
(Image by mohamed Hassan from Pixabay)
(Hypertrichosis. source – [4])
(Hypertrichosis. source – [4])
Also peripheral phalanges of the fingers become shorter, and the skin of the fingers become tighter than normal (aka “werewolf hands”) [6].
(Image by Adryanah from Pixabay)
(Septic wounds over hands. source – [4])
Anemia (deficiency of proper haemoglobin or red blood cells) is characterized by weariness and pallor.
Some patients with CEP might experience most of the symptoms mentioned above while others only a few of the symptoms.