Modeling Brain Pathology of Niemann-Pick Disease Type C Using Patient-Derived Neurons.

ABSTRACT:

Background

Niemann-Pick disease type C (NPC) is a rare autosomal-recessive lysosomal storage disease that is also associated with progressive neurodegeneration. NPC shares many pathological features with Alzheimer's disease, including neurofibrillary tangles, axonal spheroids, β-amyloid deposition, and dystrophic neurites. Here, we examined if these pathological features could be detected in induced pluripotent stem cell (iPSC)-derived neurons from NPC patients.

Methods

Brain tissues from 8 NPC patients and 5 controls were analyzed for histopathological and biochemical markers of pathology. To model disease in culture, iPSCs from NPC patients and controls were differentiated into cortical neurons.

Results

We found hyperphosphorylated tau, altered processing of amyloid

SUBMITTER: Burbulla LF 

PROVIDER: S-EPMC8422975 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature