DNA Repair is essential for a healthy organism. In every day of our lives, tens of thousands of damages occur in the genetic material of our cells. Hence, it is not surprising that a broad variety of repair mechanisms developed in the course of evolution that enables cells to quickly react and patch up the affected DNA strands. How important those repair mechanisms are becomes obvious, when they fail: Patients with FA are unable to repair DNA crosslinks, which, besides numerous other symptoms including bone marrow failure, in most cases eventually leads to cancer. So far, no curative therapy has been found for this disease.
Damaged DNA and its complex repair mechanisms is the research focus of the group of Joanna Loizou, Principal Investigator at CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and finding new molecular targets to fight FA is one of their goals. In their latest study, published in Nature Communications (DOI 10.1038/s41467-018-04649-z), the researchers aimed to find additional genes that genetically interact with the diseased FA genes and are essential for the manifestation of the disease, and thereby, if destroyed, restore the ability of the cell to repair DNA crosslinks. The research project was performed in collaboration with scientists from the University of Cambridge, from the Leiden University Medical Center, the University of California, the University of Toronto and the group of Jörg Menche at CeMM.
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