Research Finds Molecular Cause of Fetal Alcohol Syndrome

Hope is to develop drug to protect fetus from defects

(HealthDay is the new name for HealthScoutNews.)

MONDAY, June 9, 2003 (HealthDayNews) -- Researchers have identified a key molecule involved in fetal alcohol syndrome.

They are now working toward a drug that might stop the damage done by this leading preventable cause of mental retardation.

"What we have now is something that, at least in mice, prevents the procedures that produce this kind of damage in the brain," says Dr. Michael E. Charness, an associate professor of neurology at Harvard Medical School and leader of the research team.

The molecule's scientific name is simple: L1. It helps guide cells of the developing fetal brain to their proper positions by letting those cells communicate with each other. Excess alcohol causes mental retardation and other defects by interfering with that communication process, says a report in this week's Proceedings of the National Academy of Sciences.

The finding represents a significant development, says Dr. David A. Greenberg, professor and vice president at the Buck Institute for Aging Research in Novato, Calif. He wrote an accompanying editorial in the journal.

Fetal alcohol syndrome "is a disease about which very little has been known in terms of mechanism," Greenberg says. "There really haven't been too many clues to start pursuing at the molecular level. This is the first time a specific molecule has been implicated so clearly."

It has been known that children with mutations of the L1 gene suffer from mental retardation and other defects, Charness says. His group began by working with a molecule that is known to protect against many chemicals that damage nerve cells.

The protective molecule is a short protein consisting of just eight subunits called amino acids. "We began to replace one amino acid at a time to see which was important," Charness says. "We tested them in two assays."

The researchers came up with one protein, designated NAPVSICO by the initials of its component amino acids, that blocks the effect of alcohol on L1.

"This particular action on L1 might be very important in producing some birth defects," Charness says. "It also gives us a target we can study in culture to develop other compounds that might be effective."

The protein has been effective in experiments on mice that were given the molecule by injection and by inhalation, Charness says. "We are continuing to work very hard with experiments to understand how it could be used and how it works," he adds.

Such a drug would be welcome, says Dr. Siobhan Dolan, assistant medical director of the March of Dimes Birth Defects Foundation.

"All women want to do what is best for their children," she says. "Pregnancy is a time when a woman will take a step they might not do at other times. If something could help women with alcohol issues, I think they would be reachable."

Women are consistently advised not to drink at all during pregnancy. But the U.S. Centers for Disease Control and Prevention estimates that between 1,200 and 8,800 children are born each year with full-blown fetal alcohol syndrome, which causes not only mental retardation but facial deformities and growth retardation. Many thousands more are born with alcohol-related neurological disorder, whose effects are not as severe.

More information

Learn more about the harm done by drinking during pregnancy from the Centers for Disease Control and Prevention or the National Organization on Fetal Alcohol Syndrome.

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