Diagnosis and Treatment: Niemann-Pick disease

In 1914, German pediatrician Albert Niemann described this diesease. Today, there are three separate diseases that carry the name Niemann-Pick: Type A is the acute infantile form, Type B is a less common, chronic, non-neurological form, while Type C is a biochemically and genetically distinct form of the disease. Recently, the major locus responsible for Niemann- Pick type C (NP-C) was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis. Usually, cellular cholesterol is imported into lysosomes-'bags of enzymes' in the cell-for processing, after which it is released. Cells taken from NP-C patients have been shown to be defective in releasing cholesterol from lysosomes. This leads to an excessive build-up of cholesterol inside lysosomes, causing processing errors. NPC1 was found to have known sterol-sensing regions similar to those in other proteins, which suggests it plays a role in regulating cholesterol traffic.

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Important Links Gene sequence LocusLink [www.ncbi.nlm.nih.gov/LocusLink/list.cgi?Q=Niemann-Pick&ORG=Hs&V=0]

collection of gene-related information BLink [www.ncbi.nlm.nih.gov/sutils/blink.cgi?pid=4557803&org=1]

related sequences in different organisms

The literature Research articles online full text Books online books section OMIM [www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257200] catalog of human genes and disorders Websites Fact sheet [www.ninds.nih.gov/health_and_medical/disorders/niemann.doc.htm]