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Gene discovery sheds light on causes of rare disease, cancer

National Institute on Aging (NIA) researchers have discovered a new gene, FANCM, which sheds light on an important pathway involved in the repair of damaged DNA. Specifically, mutation in this gene is responsible for one of the forms of Fanconi anemia (FA), a rare genetic disorder that primarily affects children. Like many rare, inherited diseases, understanding this gene's role in the development of FA provides insights into other medical problems -- in this case, age-related conditions including ovarian and pancreatic cancers, as well as leukemia, the researchers said. Discovery of this gene and its protein provides a potential target for the development of drugs that can prevent or alleviate FA and a variety of cancers.

The finding is scheduled for advanced online publication in Nature Genetics (http://www.nature.com/ng/) during the week of August 21, 2005.* The report also will be published in the journal's September 2005 print edition. The NIA is a component of the National Institutes of Health (NIH) at the U.S. Department of Health and Human Services.

"FA is a disease that appears to be the result of a breakdown in vital DNA repair mechanisms," said Weidong Wang, Ph.D., a senior investigator in the NIA's Laboratory of Genetics, who led the study. "Some scientists theorize that DNA damage, which gradually accumulates as we age, leads to malfunctioning genes and deteriorating tissues and organs as well as increased risk of cancer. We believe that this new gene, FANCM, may be a potent cog in the DNA repair machinery," Wang said. "It is possible that we could learn how to promote the function of DNA repair complexes and thereby prevent the age-related accumulation of DNA damage."

FANCM, like most genes, contains information for making a specific protein. The FANCM protein, part of the molecular machine called the FA core complex, is the only protein within this machine that affects DNA by e
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21-Aug-2005


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