Breakthrough in understanding Warsaw breakage syndrome

(Tokyo Metropolitan University) Researchers from Tokyo Metropolitan University and the FIRC Institute of Molecular Oncology (IFOM) in Italy have uncovered a previously unknown function of the DDX11 helicase enzyme. Mutations in the gene which codes for DDX11 are known to be implicated in Warsaw Breakage Syndrome. They showed that DDX11 plays an important role in DNA repair, and functions as a backup to the Fanconi Anemia (FA) pathway, whose malfunction is associated with another life-debilitating condition.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news