This year’s Nobel Prize in Medicine has been awarded to two American researchers: Dr. Victor Ambros and Dr. Gary Ruvkun, who discovered microRNAs (miRNAs), a new class of small RNA molecules that play a crucial role in gene regulation.
Ambros and Ruvkun’s discovery revealed a new principle of gene regulation that is fundamental to multicellular organisms, including humans. Now we know that the human genome contains more than a thousand miRNAs, which play an important role in the development and functioning of organisms.
Since 2021, several functional studies have demonstrated that the dysregulation of some miRNAs, such as miR-16-1, miR-29a and miR-96, enhances clinical severity or has an ameliorating effect in Sickle Cell Disease (SCD), an illness characterized by the production of abnormal hemoglobin. It means that patients suffering from this disease may present haemolytic anaemia, pain and organ damage. To notice, miR-16-1, miR-29a and miR-96 are involved in the regulation of the BCL11A/TR2/TR4 hub, and BCL11A is a gene that suppresses the production of γ-globin and fetal hemoglobin (HbF) in red blood cells. Since higher levels of HbF can reduce the severity of SCD, lowering BCL11A could represent a promising approach to increase HbF, as is being studied in a clinical trial initiated by Boston Children’s Hospital (NCT03282656).