HEATR3 mRNA

HEATR3 mRNA is an mRNA-based protein replacement therapy under development for the treatment of Diamond-Blackfan Anemia Syndrome (DBAS). DBAS is a rare inherited bone marrow failure disorder characterized by severe chronic anemia and congenital abnormalities, often caused by ribosomal protein haploinsufficiency. Specifically, biallelic loss-of-function mutations in the HEATR3 gene, which encodes a factor essential for 60S ribosomal maturation and 5S-ribonucleoprotein (5S-RNP) particle biogenesis, have been identified as a cause of autosomal recessive DBAS. The therapeutic approach utilizes sequence-optimized and chemically modified mRNA encoding the HEATR3 protein, encapsulated in CD117-targeted lipid nanoparticles (LNPs) to enable specific in vivo delivery to hematopoietic stem and progenitor cells (HSPCs). By restoring HEATR3 expression, the therapy aims to rescue defects in ribosome biogenesis, cellular proliferation, and erythropoiesis, potentially providing a non-genomic alternative to hematopoietic stem cell transplantation.

Other names

HEATR3 mRNA therapeuticsHEATR-3 mRNA therapeuticsHEATR 3 mRNA therapeutics