Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems

• Published in: International journal of molecular sciences Vol. 23; no. 3; p. 1886
• Main Authors: Macečková, Zuzana, Kubíčková, Agáta, De Sanctis, Juan Bautista, Hajdúch, Marian
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.02.2022; MDPI
• Subjects: Anemia; Anemia, Diamond-Blackfan - drug therapy; Anemia, Diamond-Blackfan - metabolism; Aplasia; Apoptosis; Blood; Blood diseases; Bone marrow; c-myc; Congenital diseases; Corticosteroids; Deformities; Deregulation; Diabetes; Diamond-Blackfan anaemia; Diamonds; DNA methylation; Erythrocytes; Erythropoiesis; Erythropoiesis - drug effects; GATA1; Gene Expression Regulation - drug effects; Gene Regulatory Networks - drug effects; Gene therapy; Genotype & phenotype; Glucocorticoids; Glucocorticoids - pharmacology; Glucocorticoids - therapeutic use; glucocorticosteroid; Hemoglobin; Humans; Kinases; Ligands; Metabolism; mTOR; Phenotypes; Protein synthesis; Proteins; Review; Transcription factors; Treatment Outcome; Czech Republic; Diamond-Blackfan anaemia; autophagy; c-myc; glucocorticosteroid; mTOR; erythropoiesis; GATA1
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms23031886

Diamond-Blackfan anaemia (DBA) is a red blood cell aplasia that in the majority of cases is associated with ribosomal protein (RP) aberrations. However, the mechanism by which this disorder leads to such a specific phenotype remains unclear. Even more elusive is the reason why non-specific agents such as glucocorticosteroids (GCs), also known as glucocorticoids, are an effective therapy for DBA. In this review, we (1) explore why GCs are successful in DBA treatment, (2) discuss the effect of GCs on erythropoiesis, and (3) summarise the GC impact on crucial pathways deregulated in DBA. Furthermore, we show that GCs do not regulate DBA erythropoiesis via a single mechanism but more likely via several interdependent pathways.