Niemann-Pick C disease: cholesterol handling gone awry

Niemann-Pick C disease (NPC) is a debilitating, recessive disorder in human s that causes unrelenting neurological deterioration and is complicated by the presence of lipid-laden foamy cells in the major organs of the body. NP C fibroblasts cultured with an excess of low density lipoprotein (LDL) abno rmally sequester cholesterol in their lysosomes. Biochemical analyses of NP C cells suggest an impairment in the intracellular transport of cholesterol to post-lysosomal destinations occurs in NPC. The recent identification of the NPC gene, NPC1, provides a definitive diagnosis of the disease and a m eans of studying this key component of intracellular cholesterol transport and homeostasis.