Video: NPC Mechanism of Disease

NPC is a rare and fatal genetic disorder that leads to progressive neurodegeneration and premature death. It is caused by pathogenic variants in NPC1 (~95% of cases) or NPC2 genes that impair the ability of the encoded proteins to properly move cholesterol out of the lysosome. As a result, cholesterol accumulates, leading to downstream cellular dysfunction.

This accumulation affects every cell in the body but is most devastating in the brain, where it drives progressive neurological decline and neuronal death. Among all forms of NPC, progression is most rapid in infantile-onset NPC, in which neurological symptoms appear before age 6. Irreversible damage has already occurred by the time neurological symptoms appear, and without treatment, disease does not stabilize or reverse.

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