Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation. Nobuta, H., Yang, N., Ng, Y. H., Marro, S. G, Sabeur, K., Chavali, M., Stockley, J. H, Killilea, D. W, Walter, P. B, Zhao, C., Huie, J., Goldman, S. A, Kriegstein, A. R, Franklin, R. J M, Rowitch, D. H, & Wernig, M. Cell Stem Cell, 25(4):531–541.e6, October, 2019.
abstract   bibtex   
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolipid Protein 1 (PLP1), encoding a major myelin protein, resulting in profound developmental delay and early lethality. Previous work showed involvement of unfolded protein response (UPR) and endoplasmic reticulum (ER) stress pathways, but poor PLP1 genotype-phenotype associations suggest additional pathogenetic mechanisms. Using induced pluripotent stem cell (iPSC) and gene-correction, we show that patient-derived oligodendrocytes can develop to the pre-myelinating stage, but subsequently undergo cell death. Mutant oligodendrocytes demonstrated key hallmarks of ferroptosis including lipid peroxidation, abnormal iron metabolism, and hypersensitivity to free iron. Iron chelation rescued mutant oligodendrocyte apoptosis, survival, and differentiationin vitro, and post-transplantation in vivo. Finally, systemic treatment of Plp1 mutant Jimpy mice with deferiprone, a small molecule iron chelator, reduced oligodendrocyte apoptosis and enabled myelin formation. Thus, oligodendrocyte iron-induced cell death and myelination is rescued by iron chelation in PMD pre-clinical models.
@ARTICLE{Nobuta2019-ss,
  title    = "Oligodendrocyte Death in {Pelizaeus-Merzbacher} Disease Is
              Rescued by Iron Chelation",
  author   = "Nobuta, Hiroko and Yang, Nan and Ng, Yi Han and Marro, Samuele G
              and Sabeur, Khalida and Chavali, Manideep and Stockley, John H
              and Killilea, David W and Walter, Patrick B and Zhao, Chao and
              Huie, Jr, Philip and Goldman, Steven A and Kriegstein, Arnold R
              and Franklin, Robin J M and Rowitch, David H and Wernig, Marius",
  abstract = "Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy
              caused by mutations in Proteolipid Protein 1 (PLP1), encoding a
              major myelin protein, resulting in profound developmental delay
              and early lethality. Previous work showed involvement of unfolded
              protein response (UPR) and endoplasmic reticulum (ER) stress
              pathways, but poor PLP1 genotype-phenotype associations suggest
              additional pathogenetic mechanisms. Using induced pluripotent
              stem cell (iPSC) and gene-correction, we show that
              patient-derived oligodendrocytes can develop to the
              pre-myelinating stage, but subsequently undergo cell death.
              Mutant oligodendrocytes demonstrated key hallmarks of ferroptosis
              including lipid peroxidation, abnormal iron metabolism, and
              hypersensitivity to free iron. Iron chelation rescued mutant
              oligodendrocyte apoptosis, survival, and differentiationin vitro,
              and post-transplantation in vivo. Finally, systemic treatment of
              Plp1 mutant Jimpy mice with deferiprone, a small molecule iron
              chelator, reduced oligodendrocyte apoptosis and enabled myelin
              formation. Thus, oligodendrocyte iron-induced cell death and
              myelination is rescued by iron chelation in PMD pre-clinical
              models.",
  journal  = "Cell Stem Cell",
  volume   =  25,
  number   =  4,
  pages    = "531--541.e6",
  month    =  oct,
  year     =  2019,
  keywords = "ferroptosis; gene correction; induced pluripotent stem cells;
              iron chelation; leukodystrophy; myelination; oligodendrocyte;
              patient models",
  language = "en"
}

Downloads: 0