Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies
Abstract
DEAD‐box Helicase 41 (DDX41) is a member of the DExD/H‐box helicase family that has a variety of cellular functions. Of note, germline and somatic mutations in the DDX41 gene are prevalently found in myeloid malignancies. Here, we present a comprehensive and analytic review covering relevant clinical, translational and basic science findings on DDX41. We first describe the initial characterisation of DDX41 mutations in patients affected by myelodysplastic syndromes, their associated clinical characteristics, and current treatment modalities. We then cover the known cellular functions of DDX41, spanning from its discovery in Drosophila as a neuroregulator through its more recently described roles in inflammatory signalling, R‐loop metabolism and snoRNA processing. We end with a summary of the identified basic functions of DDX41 that when perturbed may contribute to the underlying pathology of haematologic neoplasms.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Sep 09, 2022
- Source ID
- 10.1002/1873-3468.14487
Entities
People
- Joshua T. Weinreb
- Teresa V Bowman
Organizations
- Albert Einstein College of Medicine
- Edward P. Evans Foundation
- National Heart, Lung, and Blood Institute
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institute of General Medical Sciences
- United States Department of Defense