Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3 beta,5 alpha,6 beta-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis

摘要

Background: Niemann-Pick type C (NPC) is a treatable genetic disorder, mainly characterized by neurological dysfunction and liver damage. Its diagnosis is based on an invasive test which requires a skin biopsy to demonstrate the cholesterol accumulation in culture fibroblasts of affected patients. In the last years, new biomarkers have been investigated aiming to facilitate the diagnosis and screening of NPC; two of these possible candidates are the oxysterol cholestane-3 beta,5 alpha,6 beta-triol (triol), a product of non-enzymatic oxidation of cholesterol, and the enzyme chitotriosidase (CT), a fully active chitinase (EC-3.2.1.14) synthesized by activated macrophages.