Poikiloderma with neutropenia (PN) is a rare, inflammatory form of bone marrow failure syndrome characterized by telangiectasia, pigmented rashes, and neutropenia . Mutations in the USB1 (short for U6 SnRNA Biogenesis Phosphodiesterase 1) gene are a known genetic cause of this disease. Researchers from the Washington School of Medicine have now uncovered a potential treatment strategy for this condition.
In the study published the journal Science, the researchers reported that mutations in the USB1 gene cause longer tails to form in the miRNA products which leads to the characteristic impaired hematopoiesis in this condition (Figure 1). Blocking the elongation of the miRNA tail using an experimental PAPD5 (short for PAP-associated domain-containing protein 5) inhibitor known as RG7834, stabilized the miRNA and restored the hematopoietic activity of the embryonic stem cells. The…
