News of the WeekCell Biology

Disease Genes Clarify Cholesterol Trafficking

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Science  22 Dec 2000:
Vol. 290, Issue 5500, pp. 2227-2229
DOI: 10.1126/science.290.5500.2227b

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On pages 2295 and 2298, two groups report results that should help explain what goes amiss in Niemann-Pick C (NPC), a rare hereditary disease in which cholesterol so clogs cells, particularly brain cells, that the cells can't function normally and degenerate. The findings should also help solve a long-standing mystery about how cells normally handle cholesterol, and they could eventually point to new ways to treat NPC patients as well as the much larger population with elevated blood cholesterol levels.