While cholesterol metabolism has been well-documented, scientists understand little about how cholesterol is absorbed from our diet and excreted by the body.
Different people absorb different amounts.
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. 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. We hope this is the key gene that will allow us to target cholesterol absorption as a whole new form of drug therapy.