Isogenic iPSCs Used to Dissect 7q Deletion and Identify Candidate Genes for MDS Blood Cancer

Induced pluripotent stem cells (iPSCs), adult cells that have been reprogrammed back to an embryonic stem cell-like state, may better model the genetic contributions to each patient's particular disease. In a process called cellular reprogramming, researchers at the Icahn School of Medicine at Mount Sinai in New York City have taken mature blood cells from patients with myelodysplastic syndrome (MDS) and reprogrammed them back into iPSCs to study the genetic origins of this rare blood cancer. The results were published online on March 23, 2015 in Nature Biotechnology. The title of the article is “Functional Analysis of a Chromosomal Deletion Associated with Myelodysplastic Syndromes Using Isogenic Human Induced Pluripotent Stem Cells.” In MDS, genetic mutations in the bone marrow stem cell cause the number and quality of blood-forming cells to decline irreversibly, further impairing blood production. Patients with MDS can develop severe anemia and in some cases a leukemia also known as AML (acute myeloid leukemia). But which genetic mutations are the critical ones causing this disease? In this study, researchers took cells from patients with blood cancer MDS and turned them into stem cells to study the deletions of one copy of the long arm of human chromosome 7 (7q) that are often associated with this disease. "With this approach, we were able to pinpoint a region on chromosome 7 that is critical and were able to identify candidate genes residing there that may cause this disease," said lead researcher Eirini Papapetrou (photo), M.D., Ph.D., Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai.
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