Identification of genetic aberrations in myelodysplastic syndromes

Although the vast majority of patients with a myelodysplastic syndrome (MDS) suffer from cytopenias, the bone marrow is usually normocellular or hypercellular. Apoptosis of hematopoietic cells in the bone marrow has been implicated in this phenomenon. However, in MDS it remains only partially elucidated which genes are involved in this process and which hematopoietic cells are mainly affected. We have employed sensitive real-time PCR technology to study a large set of apoptosis-related genes and gene families in the immature CD34+ and the differentiating erythroid and monomyeloid bone marrow cells. Several genes were found to be differentially expressed between patients and controls in more than one cell fraction, most importantly the BIK (BCL2-interacting killer) gene. Although different patient groups, based on the IPSS scoring system, and healthy controls could not be distinguished based on the overall expression pattern of these apoptosis-related genes, the differential expression of specific genes in MDS patients and controls may contribute to changes in the cell’s sensitivity to cell death and thus increased apoptosis.