Scientists Closer To Locating Gene That May Explain Cholesterol Absorption

DALLAS--September 1, 1998--In a discovery that may shed light on why people absorb cholesterol at different rates, scientists from UT Southwestern Medical Center at Dallas and the National Institutes of Health have narrowed their search for a gene responsible for abnormal cholesterol absorption in individuals with a rare hereditary disease.

While cholesterol metabolism has been well-documented, scientists understand little about how cholesterol is absorbed from our diet and excreted by the body.

"Only a fraction of the cholesterol we consume is actually absorbed by the body," said Dr. Shailendra Patel, assistant professor of clinical nutrition and a scholar in the Center for Human Nutrition at UT Southwestern. "Different people absorb different amounts. Some might eat a cholesterol-laden meal and absorb 30 percent of it; someone else might eat a low-cholesterol meal but absorb 60 percent of it."

The researchers studied 10 families with sistosterolemia, a rare, recessively inherited disease characterized by the accumulation of plant sterols, premature heart disease and fatty deposits on the skin and tendons. Plant sterol is akin to cholesterol in animal products but normally is not absorbed by the body.

"In normal individuals, the body has the ability to selectively absorb cholesterol and exclude plant sterols,"said Patel, lead author of the study published in the Sept. 1 issue of the Journal of Clinical Investigation. "Individuals with sistosterolemia hyperabsorb cholesterol, but also absorb plant and shellfish sterols that are not normally absorbed. Hence, the gene that is disrupted may regulate selective absorption of dietary cholesterol.

"If we wanted to change someone's cholesterol absorption, this gene would be the target of treatment," Patel said. "We hope this is the key gene that will allow us to target cholesterol absorption as a whole new form of drug therapy."

"Our studie

Contact: Bridgette Rose McNeill
(214) 648-3404
UT Southwestern Medical Center

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