Research NewsGenetics

Newfound Gene Holds Key to Cell's Cholesterol Traffic

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Science  11 Jul 1997:
Vol. 277, Issue 5323, pp. 180-181
DOI: 10.1126/science.277.5323.180

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Summary

On page 228, researchers report that they have tracked down the gene that is mutated in a rare genetic disorder called Niemann-Pick type C disease, in which cells cannot process cholesterol and become glutted with the fatlike molecule. The protein product of the gene seems to sense a cell's level of cholesterol and help shuttle it from one part of the cell to another. An identical gene is at fault in a mouse model of the disease, as another group reports on page 232, which should make it easier to test ideas about the protein's function.