Most people born with Niemann-Pick type C1 (NPC1) die before the age of 20. That’s because this rare genetic disease impairs their cells’ ability to process cholesterol and other energy-storing molecules, leading to destructive accumulations in the liver, spleen and brain. But scientists have now discovered something else that contributes to NPC1: impaired autophagy – problems with the housekeeping process by which useful molecules are recycled and problematic ones cleared away. Pictured are cells from a diseased mouse with nuclei (stained pink) surrounded by aggregates of a protein called p62 (green), a sign of faulty autophagy. When this happens, cells get clogged with devastating amounts of trash. Unfortunately, the researchers found that at high doses, an experimental drug that could treat cholesterol accumulation also disrupts autophagy. By keeping the dose low and combining it with compounds that stimulate autophagy, however, it might be possible to solve both problems.
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