Diversity of Glycosphingolipid GM2 and Cholesterol Accumulation in NPC1 Patient-Specific iPSC-Derived Neurons

Highlights • NPC1 patient iPSC-derived neurons show GM2 accumulation. • GM2 and cholesterol are deposited in same subcellular compartments. • Level of Hex A activity is reduced in NPC1 patient iPSC-derived cells. • In silico docking simulation hints towards an interference of cholesterol with Hex A....

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Bibliographic Details
Published in:Brain research 2017-02, Vol.1657, p.52-61
Main Authors: Trilck, Michaela, Peter, Franziska, Zheng, Chaonan, Frank, Marcus, Dobrenis, Kostantin, Mascher, Hermann, Rolfs, Arndt, Frech, Moritz J
Format: Article
Language:English
Subjects:
Carrier Proteins - genetics
Carrier Proteins - metabolism
Cells, Cultured
Cholesterol
Cholesterol - metabolism
G(M2) Ganglioside - metabolism
G(M3) Ganglioside - metabolism
Glycosphingolipids
GM2
Hexosaminidase A - metabolism
Humans
Induced Pluripotent Stem Cells - metabolism
Induced Pluripotent Stem Cells - pathology
iPSC-derived neurons
iPSCs
Membrane Glycoproteins - genetics
Membrane Glycoproteins - metabolism
Molecular docking
Molecular Docking Simulation
Mutation
Neural Stem Cells - metabolism
Neural Stem Cells - pathology
Neuroglia - metabolism
Neuroglia - pathology
Neurology
Neurons - metabolism
Neurons - pathology
Niemann-Pick disease Type C1
Niemann-Pick Disease, Type C - genetics
Niemann-Pick Disease, Type C - metabolism
Niemann-Pick Disease, Type C - pathology
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Summary:Highlights • NPC1 patient iPSC-derived neurons show GM2 accumulation. • GM2 and cholesterol are deposited in same subcellular compartments. • Level of Hex A activity is reduced in NPC1 patient iPSC-derived cells. • In silico docking simulation hints towards an interference of cholesterol with Hex A. • We suggest that GM2 accumulation is based on that interference.
ISSN:0006-8993
1872-6240
DOI:10.1016/j.brainres.2016.11.031