Márcia Polese Bonatto

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients

Niemann‐Pick type C (NP‐C), one of 50 inherited lysosomal storage disorders, is caused by NPC protein impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. The clinical manifestations of NP‐C include hepatosplenomegaly, neurological and psychiatric symptoms. Current diagnosis for NP‐C is based on observation of the accumulated cholesterol in fibroblasts of affected individuals, using an invasive and time expensive test, called Filipin staining. Lately, two metabolites that are markedly increased in NP‐C patients are arising as biomarkers for this disease screening: 7‐ketocholesterol and cholestane‐3β,5α,6β‐triol, both oxidized cholesterol products.