Two new genes related to Fanconi anemia were discovered in August 2005, bringing to 11 the number of genes identified as having links to the disease.
The newly discovered genes, called FANCJ and FANCM, are involved in the process of DNA repair and inch scientists closer to an understanding of F.A. Researchers suspect that a total of 12 genes are involved in the development of the disorder.
F.A. is a recessive hereditary disease; the children of parents with mutations in the same F.A. gene have a 25% chance of developing it. Although F.A. occurs in all ethnic groups, it is most prevalent among Ashkenazic Jews, who have a one in 87 chance of being carriers.
F.A. sufferers usually experience bone-marrow failure and develop leukemia. Patients also have heightened susceptibility to other forms of cancer. F.A. patients are usually of small stature, tend to feel extreme fatigue and have frequent infections.
Scientists have tried to keep their enthusiasm over the new discoveries in check, as the process of how these genes interact to create F.A. is still poorly understood.
“There’s a lot of work to be done from here,” said Dr. Arleen Auerbach, a professor at New York’s Rockefeller University and a leading expert on F.A. Auerbach is also the founder of a registry devoted to tracing the genes in the Ashkenazic gene pool.
“Once we know all of the genes, that may help us have a better understanding of the whole process,” Auerbach said.
The newly identified genes may also shed new light on some of the factors that cause breast cancer, as the protein created by FANCJ reacts with two other proteins that are known to cause that disease.
In the year since the two genes were identified, researchers have not yet found Jewish carriers of the genes, but even if no Jews are carriers of the new genes the discoveries will enable scientists to better understand how F.A. causes cancer.
Currently, bone-marrow cancer is the most common disease associated with F.A. Bone-marrow transplants, which are risky and produce unpredictable results, are the most common treatment.