An international team of scientists has isolated and cloned a gene for the most common form of Fanconi anemia, a rare and often fatal disease. The findings, published in the November Nature Genetics, have raised hopes for an improved prenatal diagnostic test and gene therapies to treat the disease.
Fanconi anemia afflicts several thousand people worldwide, causing severe bone marrow failure, birth defects, and a form of leukemia. The symptoms often lead to death by age 20.
Geneticist Arleen D. Auerbach of Rockefeller University, New York, and her colleagues have pinpointed mutations in a gene that appear to trigger the disease. The mutated gene, FAA, codes for an aberrant, as-yet-unnamed protein that initiates a cascade of malfunctions in various body systems, including production of blood cells and platelets in the bone marrow. The team suspects that the normal protein plays "a major role in embryonic development," Auerbach says, perhaps in DNA repair and replication. Auerbach presented their work at the American Society of Human Genetics meeting in San Francisco on 31 October.
The findings may have implications beyond Fanconi anemia. The lack of the normal protein or a mutated version may play a role in how anemia patients acquire leukemia. If so, says Grover Bagby, a hematologist who directs the Oregon Cancer Center at the Oregon Health Sciences University in Portland, further work to decipher the protein's exact function could shed light on how to treat a much larger population of patients with leukemia, certain other forms of cancer, and aplastic anemia.