Researchers at the Center for Pediatric Oncology and Blood Diseases have found out which genes are responsible for porphyria, a pathology in which the patient's skin is sensitive to sunlight. Some scholars believe that this disorder has led to myths about vampires and werewolves. The article was published in the journal Proceedings of the National Academy of Sciences. This is reported by ScienceAlert.
Porphyria is an inherited disorder in which the genes responsible for the formation of heme, the iron-containing part of hemoglobin that carry oxygen, are damaged. Patients may have various symptoms. With one of the varieties of the disease - erythropoietic protoporphyria or Gunther's disease - patients have chronic photosensitivity, skin lesions and destruction of blood cells.
Scientists have found that some people with protoporphyria have defects in the ClpX gene. It is responsible for activating the ALAS enzyme, which is involved in the production of heme. Each gene in the cells of humans and many other living organisms is represented by two copies. One healthy copy of ClpX is enough for erythrocytes to bind to oxygen, but porphyrins, heme precursors, accumulate.
It has been shown that one of the types of porphyrin components, protoporphyrin IX, easily absorbs solar energy and transfers it to oxygen molecules. The high concentration of reactive oxygen species destroys cells, causing skin damage.
