Advertisement

First gene mutation linked to leukemia

COLUMBUS, Ohio, May 31 (UPI) -- U.S. researchers said Thursday they have discovered an inherited gene mutation that appears linked to a higher risk for leukemia.

The Ohio State University researchers said the finding is the first- discovered inherited gene mutation that seems to increase a person's risk for chronic lymphocytic leukemia, or CLL, which is one of the most common forms of the disease.

Advertisement

"Our findings identify for the first time a gene that appears to be associated with hereditary CLL," said study co-author John Byrd, professor of internal medicine and a CLL specialist. "They also show the importance of the gene in the pathogenesis of CLL, and direct us to target this gene with therapies that might re-activate it."

The mutation occurs in a gene known as DAPK1, which normally helps trigger the death of cells before they become cancerous.

But the newly found inherited anomaly in the gene interferes with the gene's ability to perform this protective function; then a second mutation -- which the team said is not inherited -- turns the gene off completely, leading to the deadly blood disease.

"This inherited change is remarkably subtle," says co-principal investigator Albert de la Chapelle, professor of molecular virology, immunology and medical genetics and a researcher with the Ohio State human cancer genetics program. "It does not shut down the gene, but just lowers its expression somewhat.

Advertisement

"Recently, many cancer geneticists have come to believe that such subtle changes are common causes of cancer, and this is one of the first, strong examples of that principle."

The study is published in the June 1 issue of the journal Cell.

Latest Headlines