NEJM:CRISPR. new work! Help find the cause of polycythemia the first genetic mutation!

Source: NEJM:CRISPR. new work! Help find the cause of polycythemia the first genetic mutation!

2018 3 November 12 news /bio Valley BIOON /–a newly discovered genetic mutation caused the blood erythropoietin（erythropoietin, EPO）increased. This mutation leads to a normal case does not participate in the formation of the protein the messenger RNA（mRNA）reprogrammed to produce the protein, thus making the blood abnormal red blood cells increased. From the Basel University of Medicine and University Hospital of Basel, researchers in the New England Journal of Medicine of the reported they found.

source: HealthDay

in patients with polycythemia the patient’s body, the red blood cell content is quite high. This disease is usually made in the bone marrow of mutations caused, accelerated erythropoiesis.

from the Basel University of Medicine and University Hospital of Basel, the researchers are now in a suffering from hereditary polycythemia of the family to find the first ever EPO gene mutation. Our generation in 10 A is a disease affecting the patients involved in this study.

by using a whole-genome linkage analysis and gene sequencing, the researchers found that all affected family members of the EPO gene are missing a single BP. Since EPO increases red blood cells production, thus it is possible that this mutation leads to the disease.

why is over-produced, rather than produce it?

but the researchers the most was beginning to feel very confused. This mutation indeed causes the EPO gene function is missing, because this base deletion causes a gene encoding reading frame from moving, which means no longer form the EPO. Nevertheless, the patient in the blood EPO content was indeed increased and not reduced.

the researchers through CRISPR technology to find the answers to your questions. The EPO gene, there is a hidden mRNA, the normal case does not participate in the formation of EPO. The researchers show that mutations also cause this gene the reading frame from moving, which leads this gene to produce more EPO.

“this mechanism is exciting.” Study lead author, Basel, University of Medicine Radek Skoda, Professor says.“ This mutations of the gene product for the reprogramming, so that the patient obtain a new gene, and the error is used to generate more EPO.” This impact on the patient is that they will because red blood cells increase and the headaches and dizziness.

EPO gene mutations should be included in future look for hereditary blood polycythemia target, the author in the article writes. （生物谷Bioon.com

resources:

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

Published at Tue, 14 Mar 2018 03:52:05 +0000