Researchers at the University of Helsinki in Finland and the Dana-Farber Cancer Institute in the USA have identified the mechanism behind bone marrow failure developing in children that suffer from Fanconi anemia. The findings may help to develop new therapies for the disorder. Fanconi anemia (FA) is a genetic disease affecting small children and characterized by bone marrow failure, developmental abnormalities, and predisposition to multiple forms of cancer. The molecular mechanisms behind FA are inherited mutations in genes encoding DNA repair proteins, leading to irreversible bone marrow failure. The exact mechanisms of how these genetic mutations lead to the exhaustion of stem cells from the bone marrow have been unknown. Now, the researchers have identified a cause for this failure. The findings were published online on September 29, 2020 in Cell Stem Cell. The article is titled “MYC Promotes Bone Marrow Stem Cell Dysfunction in Fanconi Anemia.” “The results open new paths for developing novel therapies for the disease, for which the only curative treatment currently available is stem cell transplantation. Understanding the mechanism of bone marrow failure better can help to plan stem cell transplantations and to develop new therapies for milder forms of Fanconi anemia,” says Anniina Färkkilä (photo), MD, PhD, Docent and Clinical Researcher at the University of Helsinki, and Specialist in Obstetrics and Gynecology at Helsinki University Hospital. In the study, researchers at the University of Helsinki analyzed the gene expression of individual cells, and found, to their surprise, overexpression of the MYC gene in the bone marrow stem cells of patients with Fanconi anaemia. MYC is one of the best-known genes regulating the formation of malignant tumors.
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