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August 22, 2005 — 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
The finding is scheduled for advanced online publication in Nature
Genetics 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 enzyme activity (enzymes are proteins that encourage biochemical
reactions, usually speeding them up). FANCM apparently provides an
engine that moves the FA DNA repair machine along the length of DNA. It
also is a key component of the complex that is switched "on" or "off"
by phosphorylation, or the addition of a phosphate group to a protein,
in response to DNA damage. In the future, researchers hope to use the
newly-discovered activities of FANCM as targets to select drugs that
enhance the FA DNA damage response for intervention in patients.
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 myeloid
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. This is the third FA gene and
protein combination identified in the last 3 years by Wang and his
In addition to the NIA, researchers were supported by the FA
Research Fund in Eugene, OR, the Daniel Ayling Fanconi Anemia Trust,
the Dutch Cancer Society, and the Netherlands Organization for Health
Research and Development.
*AR Meetei et al, "A Human Orthologue of Archaeal DNA Repair Protein
Hef is Defective in Fanconi Anemia Complementation Group M," Nature
Genet., August 21, 2005.
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