Certain areas of DNA, formerly called “junk DNA”, may be the key to developing a treatment that can decrease the severity of two red blood cell diseases: beta thalassemia and red blood cell disease. sickle cell anemia. A team of French (Inserm Unit “Genetic Stability, Stem Cells and Radiation”), English and Dutch researchers reached these conclusions in a joint study, published by the medical journal Journal of Clinical Investigation.
They explain that “the non-coding regions of the genome (junk DNA) have a role today recognized in the regulation of genes”, which means that their mutations can cause or influence certain diseases such as diabetes, cardiovascular diseases or cancers. . In the case of beta-thalassemia and sickle cell anemia, the non-coding regions of the genome appear to decrease the severity of the disease. While this mechanism of action was unexplained until today, researchers have found that the mutations are not localized on chromosomes that contain the genes that produce hemoglobin (in the case of red blood cell diseases), but rather occur. find “tens of thousands of base pairs from the nearest genes.”
A new therapy
“We have to imagine our DNA as a ball of yarn. If we unroll this ball, these two regions are very far from each other, but within the ball, they can be very close”, explains Eric Soler, responsible research at Inserm. But in patients with beta-thalassemia or sickle cell disease, the number of chromosome folds is lower. By working on the gene that improves the symptoms of these two diseases, the researchers hope to be able to provide a new therapy to provide relief to patients.
“Beta thalassemia and sickle cell anemia are among the most common inherited disorders affecting red blood cells. Sickle cell disease, which affects 300,000 newborns each year, is set to become the most common genetic disease in Europe”, recalls Inserm.