Discovery of a new enzyme, PHF9, is providing insight into the biological processes involved in development of Fanconi anemia (FA), a rare genetic disorder that primarily affects children. The detection of the enzyme enhances understanding of the common DNA repair pathways involved in FA, as well as certain cancers and aging, scientists say. Better understanding of these pathways could lead to new therapies for Fanconi anemia.

Scientists at the National Institute on Aging (NIA) found that genetic mutations in an important protein complex inactivate PHF9. This disrupts critical intracellular repair mechanisms and leads to many serious complications associated with FA including the inability to make red blood cells.

“FA is a disease that appears to be the result of breakdowns in DNA repair mechanisms, which are important for all of us,” said Weidong Wang, Ph.D., an investigator in the NIA’s Laboratory of Genetics. “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 risks of cancer as years go by. So every time we learn something more about DNA repair, we can hope to use that new knowledge to find ways to prevent the excessive damage to DNA that appears to occur with aging.”
 

 The information is provided by the National Institute on Aging