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Anemia: New knowledge about the development of blood cells


Understanding of blood cell formation expanded

Anemia can be caused by constant fatigue and pallor. The reason for this is a lack of red blood cells, which are responsible for the transport of oxygen in the body. Researchers have now gained new insights into the development from stem cells to blood cells.

Pioneering the treatment of certain types of anemia

The human body produces billions of new red blood cells from the stem cells of the bone marrow every day. If this process is disturbed, a serious illness can result. Scientists from Charité - Universitätsmedizin Berlin and Harvard Medical School have now expanded their understanding of the formation of blood cells. The insights into the molecular biological basics can be groundbreaking for the therapy of certain forms of anemia. The results of the study have now been published in the journal "Cell".

Not fully researched scientifically

Even in a process that is now well understood, such as blood formation, there are some aspects that have not been fully researched, according to a statement by the Berlin Charité.

For example, it is not yet fully understood how the production volume of the so-called transcription factors is regulated. These special proteins control the development of blood stem cells in the different blood cell lines.

A suitable model for their research is Diamond Blackfan Anemia (DBA). This rare, congenital form of anemia “is most noticeable in infancy or early childhood. Many patients need treatments throughout their lives, ”says the portal“ Kinderblutkrankheiten.de ”.

In this hereditary disease, patients have a defect in the development of red blood cells, while the other blood cell lines develop normally.

Impaired red blood cell formation

Rajiv K. Khajuria, PhD student at the Berlin-Brandenburg School for Regenerative Therapies at the Charité, and the working group of Prof. Vijay G. Sankaran from the Boston Children's Hospital at Harvard Medical School and the Broad Institute have developed from stem cells to blood cells at the molecular level examined.

The researchers were able to show that the impaired formation of red blood cells in DBA is due to a reduced number of ribosomes, the so-called protein factories of the cell.

DBA is characterized by mutations in one of the proteins from which the ribosomes themselves are built. This mutation reduces the number of protein factories, but not their composition.

It also turned out that the conversion of certain genetic information into new proteins is impaired in these ribosomes.

This affected the transcription factor GATA1, which is important for the formation of red blood cells, and this at the level of the blood stem cells.

The transcription of the genetic information required for the production of the transcription factor, the so-called messenger RNA, shows a structural peculiarity that makes this molecule susceptible to DBA if the number of ribosomes is reduced.

The special structure of the messenger RNA of GATA1 could explain why all other blood cell lines develop completely normally from the stem cells in DBA.

How cell line development is regulated

At the level of basic research, the study provides an answer to the fundamental question of biology, how regulation of cell line development is regulated after the original genetic information has been translated into messenger RNAs.

Accordingly, the number of ribosomes in a cell in interaction with certain structural elements of the messenger RNAs controls the direction in which a stem cell develops.

In addition, an improved understanding of the development of Diamond Blackfan anemia can be the basis for the development of new therapies for patients with this disease.

“The working group is currently developing a therapeutic procedure that specifically targets the GATA1 transcription factor. Such a therapy would be accessible to all DBA patients, regardless of their underlying mutation, ”Khajuria describes the goal of the current research. (ad)

Author and source information

Video: Normal RBC Physiology Including erythropoiesis (August 2020).