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Mutation Affects Healthy Immune Cells

Posted on: Wednesday, 9 May 2007, 15:00 CDT

U.S. scientists have discovered a genetic mechanism that shuts down healthy immune cells -- a finding with implications for cancer and other diseases.

The University of Pittsburgh researchers said their discovery focused on a mechanism called a somatic stop-codon mutation.

This kind of loss-of-function mutation can be very dangerous, and it is the first such mutation that has been identified in normal immune cells in blood, said Dr. Bora Baysal, an assistant professor of obstetrics, gynecology and reproductive sciences. We did control experiments for two years to make sure it was real and not a technical error.

Baysal's team tested 180 blood samples from healthy individuals, as well as those with childhood leukemia. They found somatic stop-codon mutations in 5.8 percent of genetic materials that deliver instructions from DNA.

He said the mutations might allow the cells to survive in a low-oxygen environment, such as where there is cancer or infection.

This may give us a tool to modify the immune cells' survival in a low-oxygen environment, which could help the cells to survive and fight infections and tumors, Baysal said.

The study appears in the online journal PLoS ONE.

Source: United Press International

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