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  • Essay / Essay on polycythemia - 1456

    What are the prospects for genetic therapies for polycythemia? Polycythemia is a blood disorder defined as an increased concentration of erythrocytes in the blood. In absolute polycythemia, this increase is caused by higher production of erythrocytes, as determined by measuring the hematocrit level, with one study showing that 83% of patients have a hematocrit level > 55%. This should not be confused with relative polycythemia, caused by a reduction in blood plasma volume, often secondary to hypertension. Interestingly, affected individuals also tend to have increased concentrations of blood platelets and white blood cells, which fits well with the idea that the disease is caused by a genetic defect in the stem cell population. hematopoietic bone marrow. Studies have shown that the median age of onset is 60 years, although a Mayo Clinic study in Olmstead County, Minnesota showed it to be slightly higher, between 70 and 79 years. with men being affected more than women – although this is the reason behind gender inequality. is currently unknown. Furthermore, its prevalence in the United States is said to be in the range of 50/100,000. Additionally, Finnish skier and seven-time Olympic champion Eero Mantyranta has long been known to suffer from the disease, and it is often said that his success, at least in part, can be attributed to its polycythemia – experiments have indeed shown that it can increase the oxygen carrying capacity in the blood by up to 50%, an undeniable advantage for any endurance athlete. However, the disease can also prove fatal in many cases because the thickening of the blood increases the risk of clots forming, causing deep vein thrombosis and potentially pulmonary embolism. It is this double-edged nature of polycythemia that was the first to take over...there are many techniques available that have the potential to treat the condition. If the mutation is somatic, the use of embryonic stem cells collected at birth appears promising (although currently the collection of stem cells from the umbilical cord is not done clinically) – alongside the possibility of using instead induced pluripotent stem cells. If the mutation is hereditary, the use of viral DNA vectors carrying microRNAs that negatively regulate JAK2, TET2 or HMGA2 also seems promising, although the use of lipid-based nanoparticles is perhaps a more realistic for this research due to the difficulty of not doing so. inject DNA in such a way that it affects the functions of other genes. For acquired and inherited mutations giving polycythemia, therapies that reverse point mutations appear interesting, but more research needs to be done to understand the exact mechanisms of action..