Philanthropy For Basic Science: Werner Syndrome

Characterization of a Novel Protein Complex Involved in the Human Premature Aging Disease — Werner Syndrome

USING HIGHLY efficient immunopurification protocols they previously developed, Dr. Wang and his team isolated and analyzed several complexes of the WRN, BLM and RecQ4 proteins, involved in Werner, Bloom and Rothmund-Thompson syndromes, respectively. Their work supported the idea that WRN is involved in double-strand DNA break repair. They also identified a multiprotein complex, called BRAFT, that provides a connection between Bloom syndrome and Fanconi anemia, a rare form of aplastic anemia that is caused by mutations in any of several genes. The complex was found to include five Fanconi anemia proteins. "FA resembles BS in genome instability and predisposition to cancer," Dr. Wang wrote, "but its gene products have not been associated with any biochemical activity." The researchers' analysis allowed them to identify several new Fanconi anemia genes with important biochemical activities. The discovery should facilitate understanding of the disease and provide novel targets for development of therapeutic drugs.