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Enzyme discovery sheds light on causes of rare disease, cancer

e describe its composition, which includes nearly all of the proteins produced by the previously known FA genes plus PHF9 and several other new proteins.

The FA complex normally promotes a cascade of changes in a biochemical pathway that ultimately leads to the repair of cellular DNA damage. But if any of the proteins within the complex--including PHF9 itself--are mutated, the enzyme is disabled and the DNA repair pathway is disrupted. As a result, the person develops FA. Other researchers have found that similar disruptions in this DNA repair pathway can contribute to the development of ovarian, pancreatic, and other cancers in people who aren't at risk for FA. This suggests that PHF9 is a potent cog within the DNA repair machinery, Dr.Wang said.

"What makes the discovery of PHF9 particularly important is that none of the previously known FA gene products are enzymes," Dr.Wang said. "So the PHF9 enzyme is the key. All of the other proteins in this complex function through it. If you think of the FA complex as a factory, PHF9 is the machine that creates the product. Without it, the complex makes nothing."

Fanconi anemia, named for Swiss pediatrician, Guido Fanconi, affects about 1 in every 300,000 children. If both parents have the same mutation in the same FA gene, each of their children has a one-in-four chance of inheriting the defective gene from both parents and developing FA or certain types of cancer.

The disease leads to bone marrow failure (aplastic anemia) and is associated with birth defects such as missing or extra thumbs and skeletal abnormalities of the hips, spine or ribs. Many who have FA eventually develop acute myelogenous leukemia and are prone to head and neck, gastrointestinal and other cancers. The first symptoms, such as nose bleeds or easy bruising, usually begin before age 12. In rare instances, however, symptoms do not become apparent until adulthood.

The Nature Genetics report represents a hopeful new area of scie
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Contact: Doug Dollemore
dollemod@nia.nih.gov
301-496-1752
NIH/National Institute on Aging
14-Sep-2003


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