The role of abnormal protein translation in del(5q) myelodysplastic syndrome

Project summary

Del(5q) syndrome is a subtype of myelodysplastic syndrome (MDS), a heterogeneous disease of abnormal blood production that often leads to leukemia, and is caused by large deletions in the long arm of chromosome 5, leading to severe anemia. A direct link between defects in the protein synthesis in del(5q) MDS (translation defects) and increased inflammation in the bone marrow through upregulation of the so-called alarmins has been discovered. Our overall goal for this project is to elucidate the mechanism by which defects in protein translation contribute to severe anemia in MDS and other bone marrow failures associated with ribosomal defects.