Newsday - Tuesday, February 1, 2000
Laurie Garrett, Staff Correspondent

About five years ago, scientists in New York City discovered a genetic mutation in some people of European descent that made their cells impervious to most types of HIV infection.

Under normal circumstances, the human immunodeficiency virus uses ccR5 receptors to gain entry to cells. But gene mutations carried by people in this group were found to produce defective receptors on the surfaces of immune system cells that do not allow the virus to take hold.

If people in this group inherit the mutation from one parent, or are heterozygous, they may be infected, but are less likely to contract AIDS. If they are homozygous, meaning they inherited the mutation from both parents, HIV cannot infect their cells except in rare cases when the virus spreads using other receptors.

Now Dr. Mark Kaplan and his North Shore University Hospital colleagues have discovered that this same mutation seems to protect against the usually dangerous hepatitis C virus.

Those with the ccR5 mutation had a significantly lower overall viral load of hepatitis C than normal patients, Kaplan said yesterday in an interview, and they were more than twice as likely to spontaneously clear hepatitis C from their bodies.

"We don't know why the is a good thing to have," Kaplan said. "Maybe it protects against infection from a lot of other things, too."

Kaplan's study focused on 79 Long Island-based patients who were infected with both HIV and hepatitis C. Twenty percent of the group inherited the ccR5 mutation from one parent.

After presenting his findings at the seventh Conference on Retroviruses in San Francisco, Kaplan said they had a woman with the mutation who had "been an IV-drug user for a couple of decades and never got HIV or hepatitis C, even though she's been sexually active and shared needles with partners who have died of both diseases."

"I used to think my long-term survivors were hanging on because I was doing such a good job of caring for them," Kaplan said. "But all of them are [ccR5 mutation] heterozygotes."

Hepatitis C is primarily spread through contaminated blood, needles or medical equipment. It causes severe liver cirrhosis and has been linked to liver cancer. There is no cure. And even though some patients have undergone liver transplantation, doctors say the microbe can resurface and trigger infection in the new liver.

There are 36,000 new hepatitis C infections reported yearly in the United States, according to the Centers for Disease Control and Prevention in Atlanta, with 8,000 to 10,000 deaths per year. Overall, it's estimated that 3.9 million Americans have the disease.

Numerous studies to be presented at this week's meeting also show that liver disease caused by Hepatitis C is a major new threat to HIV patients.

Dr. Thomas O'Brien of the National Cancer Institute, meanwhile, expressed some caution about Kaplan's results. He said he has been studying hemophiliacs who became infected with both viruses through contaminated blood transfusions.

In his population, the ccR5 mutation does not appear to be protective against hepatitis C, O'Brien said. And he noted that he has seen homozygous ccR5 mutation in hepatitis C-infected individuals.

But Kaplan said he expects further study will support an association between the mutation and hepatitis C survival.

Always watch for outdated information. This article first appeared in 2000. This material is designed to support, not replace, the relationship that exists between you and your doctor.

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