Biomarkers for Niemann-Pick Disease Type C and Related Disorders of Oxysterol Accumulation
Niemann-Pick disease type C (NPC) is a lethal lysosomal storage disorder characterized by liver disease and progressive neurodegeneration. Lysosomal storage is impaired by oxidized cholesterol (oxysterol) accumulation. Presenting signs and symptoms are nonspecific and the diagnosis is frequently difficult and delayed. The inventors established a rapid ELISA assay to evaluate biomarker levels in serum. The ELISA assay tests a novel combination of two biomarkers significantly elevated in NPC patients, Cathepsin D and Galectin-3. Other diseases can cause oxysterol accumulation, including other lysosomal storage diseases, cholesterol trafficking diseases, and neurodegenerative diseases. At least for the lysosomal storage diseases, the combination of elevated Cathepsin D and Galectin-3 appears specific for NPC. Cathepsin D is a lysosomal enzyme involved in protein degradation. The secreted Galectin-3 is mostly known as a chemoattractant for immune cells.
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Forbes Porter (NICHD)
US Application No. 61/576,062
PCT Application No. PCT/US2012/069955
Betty Tong , Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325
Rockville , MD 20852
OTT Reference No: E-302-2011/0