Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.

ABSTRACT:

Background

Niemann-Pick type C1 disease (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. In this lysosomal storage disorder the intracellular transport and sequestration of several lipids like cholesterol is severely impaired, resulting in an accumulation of lipids in late endosomes and lysosomes. The neurological manifestation of the disease is caused by dysfunction and cell death in the central nervous system. Several animal models were used to analyze the impaired pathways. However, the underlying pathogenic mechanisms are still not completely understood and the genetic variability in humans cannot be reflected in these models. Therefore, a human model using patient-specific induced pluripotent stem cells provides a promising approach

SUBMITTER: Trilck M 

PROVIDER: S-EPMC3848807 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature