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Molecular mechanism of autosomal dominant polycythemia
Berková, Linda ; Láníková, Lucie (advisor) ; Kapráľová, Katarína (referee)
All red blood cells, erythrocytes, originate in bone marrow. The process of their differentiation and maturation is called erythopoiesis and is regulated through hormone erythropoietin (EPO), which functions as a stimulatory factor for erythropoiesis. EPO is produced in kidney and its production is regulated by oxygen supplementation. EPO is transported to bone marrow via blood vessels. Chronic overproduction of erythrocytes leads to disease called polycythemia. Polycythemia may be diagnosed for example by measurement of haematocrit or haemoglobin concentration in blood. EPO level may or may not be increased. Patients suffering from polycythemia may or may not have any symptoms. It depends on manifestation level of the disease. The most common symptoms are higher blood pressure, headaches, dizziness, swelling and epistaxis. Recently, the most common treatment of polycythemia is phlebothomy. The aim of this master thesis is to unravel the role of a newly described mutation, which was found among members of one family suffering from polycythemia with increased EPO level. It is single substitution mutation -136 G > A in 5' UTR region of EPO gene. The clones of EPO producing cell lines bearing this mutation were prepared using CRISPR/Cas9 technology. Several experiments performed not only on those cell...
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