Patient iPSC-derived neurons for disease modeling of frontotemporal dementia with mutation in CHMP2B

Research output: Contribution to journalJournal articleResearchpeer-review

  • Yu Zhang
  • Benjamin Schmid
  • Mikkel A. Rasmussen
  • Mikkel Agger
  • Tina C. Stummann
  • Hjalte M. Larsen
  • Troels T. Nielsen
  • Jinrong Huang
  • Fengping Xu
  • Xin Liu
  • Lars Bolund
  • Morten Meyer
  • Yonglun Luo
  • The FReJA Consortium
  • Bjørn Holst
  • Christian Clausen
  • Poul Hyttel
The truncated mutant form of the charged multivesicular body protein 2B (CHMP2B) is causative for frontotemporal dementia linked to chromosome 3 (FTD3). CHMP2B is a constituent of the endosomal sorting complex required for transport (ESCRT) and, when mutated, disrupts endosome-to-lysosome trafficking and substrate degradation. To understand the underlying molecular pathology, FTD3 patient induced pluripotent stem cells (iPSCs) were differentiated into forebrain-type cortical neurons. FTD3 neurons exhibited abnormal endosomes, as previously shown in patients. Moreover, mitochondria of FTD3 neurons displayed defective cristae formation, accompanied by deficiencies in mitochondrial respiration and increased levels of reactive oxygen. In addition, we provide evidence for perturbed iron homeostasis, presenting an in vitro patient-specific model to study the effects of iron accumulation in neurodegenerative diseases. All phenotypes observed in FTD3 neurons were rescued in CRISPR/Cas9-edited isogenic controls. These findings illustrate the relevance of our patient-specific in vitro models and open up possibilities for drug target development.
Original languageEnglish
JournalStem Cell Reports
Volume8
Issue number3
Pages (from-to)648-658
ISSN2213-6711
DOIs
Publication statusPublished - 2017

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