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According to the latest discovery, hereditary mutation is responsible for an increased production of erythropoietin EPO in the blood. This mutation causes a messenger RNA (mRNA) that is not normally involved in the formation of proteins to be reprogrammed so that it produces EPO, this abnormality increases the number of red blood cells.
In patients suffering from erythrocytosis, the red blood cell mass is very high. The disease is usually triggered by a genetic disorder in the bone marrow which leads to increased production of red blood cells. Researchers from the University of Basel and University Hospital Basel have discovered the first mutation in the EPO gene in a family with hereditary erythrocytosis. Families affected from four generations were part of the study.
After using a genome-wide linkage analysis and gene sequencing, the researchers discovered that all of the affected family members lacked a single base in the EPO gene. As the EPO hormone increases the production of red blood cells, it was likely that this mutation caused the disease. This mutation would lead to a loss of function of the EPO gene, because the absence of the base shifts the reading frame of the genetic code, that means no more EPO protein can be formed. Despite this, the concentration of EPO hormone in the patients’ blood measurably increased rather than decreased.
CRISPR method gave clear solution which allowed the researchers to engineer cells carrying the EPO mutation. There is a second, hidden mRNA in the EPO gene that is not normally involved in the production of a protein. According to researchers, the mutation also leads to a shift in the reading frame of this second mRNA, this time with the result that more biologically active EPO hormone is produced. The mutation reprograms the gene product so that it gains a new function and is misused to overproduce EPO.
haleplushearty.org