Genes For Niemann-Pick Type C Disease

Niemann-Pick disease is a class of inherited lipid storage diseases. Niemann-Pick Type C disease is an autosomal recessive neurovisceral lipid storage disorder which leads to systemic and neurological abnormalities including ataxia, seizures, and loss of speech. Patients with the disease typically die as children. The biochemical hallmark of Niemann-Pick Type C cells is the abnormal accumulation of unesterified cholesterol in lysosomes, which results in the delayed homeostatic regulation of both uptake and esterification of low density lipoprotein (LDL) cholesterol. Niemann-Pick Type C is characterized by phenotypic variability. The disease appears at random in families that have no history of the disorder, making diagnosis problematic. This invention provides the human gene for Niemann-Pick Type C disease and the nucleic acid sequences corresponding to the human gene for Niemann-Pick Type C disease. Also provided is the mouse homolog of the human gene. The invention could lead to improved diagnosis and the design of therapies for the disease and improved means of detection of carriers of the gene. In addition, this invention may contribute to the understanding and development of treatments for atherosclerosis, a more common disorder associated with cholesterol buildup that involves the accumulation of fatty tissue inside arteries that blocks blood flow, leading to heart disease and stroke. The invention may also lead to additional discoveries concerning how cholesterol is processed in the body.


Eugene Carstea (NINDS)  ➽ more inventions...

Danilo Tagle (NHGRI)  ➽ more inventions...

Melissa Ashlock (NHGRI)  ➽ more inventions...

Peter Pentchev (NINDS)  ➽ more inventions...

Jill Morris (NHGRI)  ➽ more inventions...

Stacie Loftus (NHGRI)  ➽ more inventions...

Jessie Gu (NHGRI)  ➽ more inventions...

Intellectual Property:
US Pat: 7,045,675 issued 2006-05-16
US Pat: 6,426,198 issued 2002-07-30
PCT Application No. PCT/US98/13862 filed on 1998-07-02
US Application No. 60/051,682 filed on 1997-07-03

S.K. Loftus et al., "Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene," Science 277(5323):232-235, 1997.
S.K. Loftus et al., "Rescue of neurodegeneration in Niemann Pick-C mice by a prion-promoter driven Npc1 cDNA transgene," Human Molec. Genet. 11(24):3107-14, 2002.

Licensing Contact:
Admin. Licensing Specialist (ALS),

OTT Reference No: E-122-1997-0
Updated: May 15, 2016