The study links genetic and regulatory changes to increased erythrocyte production and leukemia risk while also identifying oxidative stress as a key factor in these abnormalities. In a recent study published in Nature , researchers examined the cellular features and molecular mechanisms that increase the vulnerability of children with Down syndrome to leukemia or blood cancer. Background Down syndrome, a genetic disorder characterized by an extra copy of the 21st chromosome (trisomy 21), affects around one in every 1,000 individuals and raises the chance of developing pediatric leukemia within the initial five years.
During blood cell development, stem cells transform into myeloid or lymphoid lineages. Myeloid leukemia involves an excess of myeloid-lineage progenitor cells, namely those that give birth to red blood cells (RBCs), platelet-forming megakaryocytes, and innate immune cells like monocytes and macrophages. A 2021 study found that trisomy on chromosome 21 is necessary for leukemia to start in fetal liver cells but not for myeloid leukemia progression.
Previous research on Down syndrome showed increased erythroid-megakaryocyte progenitor cells in fetal livers but not within the bone marrow. About the study The present study researchers combined single-cell ribonucleic acid sequencing (scRNA-seq) and chromatin accessibility with spatial transcriptomics to explore epigenetic and transcriptomic changes that increase susceptibility to leukemia among Down syndrome childre.