Release date: 2018-03-12

A newly discovered genetic mutation has led to an increase in blood erythropoietin (EPO). This mutation results in a reprogramming of messenger RNA (mRNA) that does not normally participate in the formation of the protein, resulting in an abnormal increase in red blood cells in the blood. Researchers from the Department of Biomedical Sciences at the University of Basel and the University Hospital Basel reported their findings in the New England Journal of Medicine.

In patients with polycythemia, the amount of red blood cells is quite high. This disease is usually caused by genetic mutations in the bone marrow, which accelerates erythropoiesis.

Researchers from the Department of Biomedical Sciences at the University of Basel and the University Hospital Basel have now found the first ever EPO gene mutation in a family with hereditary polycythemia. Ten patients affected by the disease in our generation participated in the study.

Using genome-wide linkage analysis and gene sequencing, the researchers found that all affected family members lacked a single base in the EPO gene. Since EPO increases the production of red blood cells, it is likely that this genetic mutation causes disease.

Why is it overproduced, not generated?

But the researchers were initially confused. This mutation actually leads to a loss of EPO gene function, because the deletion of this base causes the gene coding reading frame to move, which means that EPO will not be formed. Despite this, the amount of EPO in the patient's blood did increase and did not decrease.

The researchers found the answer to the question through CRISPR technology. There is also a hidden mRNA in the EPO gene that does not normally participate in the formation of EPO. Researchers have shown that genetic mutations also cause the reading frame of this gene to move, which has led to more EPO production.

“This mechanism is exciting,” said research lead author Professor Radek Skoda from the Department of Biomedical Sciences at the University of Basel. "This gene mutation reprograms the gene product, so the patient gets a new gene and is mistakenly used to generate more EPO." The effect on the patient is that they will have headaches and dizziness due to increased red blood cells. .

EPO mutations should be included in future targets for hereditary polycythemia, the authors write in the article.

Reference materials:

Jakub Zmajkovic, Pontus Lundberg, Ronny Nienhold, Maria L. Torgersen, Anders Sundan, Anders Waage, Radek C. Skoda. A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. New England Journal of Medicine, 2018; 378 (10) : 924 DOI: 10.1056/NEJMoa1709064

Source: Bio Valley

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