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Gene mutation may no longer protect certain populations from alcoholism

  • People of Asian descent have lower rates of alcoholism than those of European and African ancestry.

  • Decades of research indicate this is largely due to a "protective mutation" of a liver enzyme.

  • Genetic mutation of aldehyde dehydrogenase (ALDH) leads to a form of "alcohol intolerance."

  • Researchers in Taiwan recently found a rare individual, an alcoholic with two copies of the genetic mutation.

Think of a person's genetic makeup as a gigantic orchestra. Each of the instruments' notes represents a gene, a protein. Various cell types can combine notes and chords into simple or complex variations. Sometimes the music flows seamlessly, sometimes a wayward note can destroy a certain passage, even the entire concert. Gene mutations are like discordant musical notes. Just as mutation of the hemoglobin gene can cause sickle-cell anemia, so too can genetic mutation of the liver enzyme aldehyde dehydrogenase (ALDH) cause a person to have an aversive reaction to alcohol.

"The major way you eliminate alcohol is via the liver," said Matt McGue, professor and chair of the Department of Psychology at the University of Minnesota. "There are two enzymes that regulate the metabolism of alcohol. First, alcohol dehydrogenase (ADH) converts alcohol into acetaldehyde. Second, ALDH converts acetaldehyde to acetate." Acetate is then metabolized by tissues outside of the liver.

"Acetaldehyde is a toxic compound," said Ting-Kai Li, Distinguished Professor at the Indiana University School of Medicine and one of the study's authors, "and the body has an aversive reaction to it." This aversion can manifest itself through cardiovascular complications, hypothermia, nausea, asthma and facial flushing. "If the ALDH enzyme is normal then the acetaldehyde is metabolized very quickly and people don't have this reaction," said Li. "If there is a genetic mutation of that enzyme, it becomes very inefficient and cannot metabolize
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Contact: Ting-Kai Li, M.D.
tkli@iupui.edu
317-274-8495
Alcoholism: Clinical & Experimental Research
13-Dec-1999


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