The study on Diamond-Blackfan anemia has helped scientists acquire a better understanding of the promoter of the formation of mature red blood cells from the amateur form of blood cells called hematopoietic stem cells. The cellular mechanism called ribosomes develops proteins in each cell of the body and is found to have a connection with the blood stem cell differentiation. This study could potentially help develop a new therapeutic pathway for the treatment of Diamond-Blackfan anemia. The Boston Children’s Hospital is currently spanning the research for a better treatment outcome. The congenital disorder is found to impair the red blood cells’ production by inhibiting the oxygen supply in the entire body leading to anemia. The years of study has helped researchers find out that the disorder affects the process of blood stem cells becoming into mature red blood cells.
The protein named GATA1, a key factor in hemoglobin development, is the vital protein in the red blood cells that transports oxygen. Years of research and genetic analysis has helped reveal that some Diamond-Blackfan patients have mutations that can inhibit the production of normal GATA1. According to Vijay Sankaran, the molecular level and ribosomes and GATA1’s involvements are all being studied and thus, a new treatment method could soon be developed. The mutated ribosomal protein genes found in Diamond-Blackfan anemia is generally seen to have a connection with GATA1 and the reason for targeting only the mature red blood cells for impairing is imaginable. The other cells in the blood fare well despite the mutations in GATA1 genes.
The examination of the mutations is necessary to find out if it affects the quantity and size of the ribosomes. Thus, the quantity was found to be the issue slashing the GATA1 proteins output, thereby impairing the mature red blood cells. If a gene therapy could outdo the GATA1 deficiency then the chances of risks related to bone marrow grafting will all be reduced. Researchers from Boston and other areas of the US and other institute colleagues recognized around hundreds of nonsynonymous variants that had an association with blood cell traits and also related some of the vital blood-related mechanisms.