Therapy of Niemann-Pick disease, type C.
Niemann-Pick disease, type C (NPC) is a progressive autosomal recessive neurodegenerative disease, characterized by late endosomal-lysosomal accumulation of multiple lipid molecules in association with abnormal tubulovesicular trafficking. The major gene product, NPC1 protein, is not suitable for transduction therapies, and gene replacement or repair is not yet practicable for NPC and related disorders. Attempts at therapy to date have focused on reduction of the accumulating molecules that are presumed to have direct or indirect toxic effects. More recent insights into the pathophysiology of NPC raise the possibility of small molecule therapies to interdict pathways triggering apoptosis and related routes to cell death and dysfunction.
Division of Pediatric Neurology, Neurological Institute of New York and Columbia University College of Physicians and Surgeons, 180 Fort Washington Avenue, HP-542, New York, NY 10032, USA. mcp73@columbia.edu
Marc C
MC
Patterson
Frances
F
Platt
D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000494:pharmacology*; D000818:Animals; D002784:Cholesterol / Q000378:metabolism; D005818:Genetic Engineering; D015316:Genetic Therapy; D006017:Glycolipids / Q000037:antagonists & inhibitors*; D006801:Humans; D009474:Neurons / Q000187:drug effects* / Q000378:metabolism / Q000637:transplantation; D009542:Niemann-Pick Diseases / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology / Q000628:therapy; D033581:Stem Cell Transplantation
D006017:Glycolipids; D017485:1-Deoxynojirimycin; D002784:Cholesterol