Porphyria is a hereditary disease in which damaged genes responsible for the formation of heme — iron-containing part of hemoglobin that carries oxygen. Patients may have different symptoms. When one of the varieties of the disease — erythropoietic protoporphyria or illness of Gunther — patients experiencing chronic photosensitivity, skin lesions and destruction of red blood cells.
The researchers found that some people with protoporphyria have defects in the gene ClpX. He is responsible for the activation of the enzyme ALAS, 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 intact copy of ClpX is sufficient to erythrocytes contacted with oxygen, however, accumulates a porphyrin — precursors of heme.
It is shown that one of the types of components porphyrin — protoporphyrin-IX — easily absorbs solar energy and transfer it to oxygen molecules. A large concentration of active forms of oxygen destroys cells, causing skin damage.
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