Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice

Mucopolysaccharidosis type I (MPS I) is a metabolic disorder characterized by a deficiency in α-l-iduronidase (IDUA), leading to impaired glycosaminoglycan degradation. Current approved treatments seek to restore IDUA levels via enzyme replacement therapy (ERT) and/or hematopoietic stem cell transpl...

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Main Authors: Caitlin C. Calhoun, Shih-Hsin Kan, Alexander E. Stover, Jerry F. Harb, Edwin S. Monuki, Raymond Y. Wang, Philip H. Schwartz
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Therapy: Methods & Clinical Development
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Online Access:http://www.sciencedirect.com/science/article/pii/S2329050124001839
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author Caitlin C. Calhoun
Shih-Hsin Kan
Alexander E. Stover
Jerry F. Harb
Edwin S. Monuki
Raymond Y. Wang
Philip H. Schwartz
author_facet Caitlin C. Calhoun
Shih-Hsin Kan
Alexander E. Stover
Jerry F. Harb
Edwin S. Monuki
Raymond Y. Wang
Philip H. Schwartz
author_sort Caitlin C. Calhoun
collection DOAJ
description Mucopolysaccharidosis type I (MPS I) is a metabolic disorder characterized by a deficiency in α-l-iduronidase (IDUA), leading to impaired glycosaminoglycan degradation. Current approved treatments seek to restore IDUA levels via enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). The effectiveness of these treatment strategies in preventing neurodegeneration is limited due to the inability of ERT to penetrate the blood-brain barrier (BBB) and HSCT’s limited CNS reconstitution of IDUA levels. We reprogrammed human cord blood cells into induced pluripotent stem cells (iPSCs), differentiated them into human induced neural stem cells (hiNSCs), and sorted them using fluorescence-activated cell sorting (FACS). Our in vitro studies showed that these hiNSCs can migrate and cross-correct IDUA deficiency. Purified hiNSCs were then transplanted into neonatal immunodeficient MPS I mice (Idua−/−). Analysis of brain tissue obtained 8 months after transplantation showed partially restored IDUA activity, with distribution and differentiation of engrafted hiNSCs throughout the brain into glial cell types. The presence of engrafted hiNSCs was associated with decreased levels of biomarkers commonly elevated in the Idua−/− mouse brain, such as β-hexosaminidase, CD68, and LAMP1, suggesting physiological efficacy. These results highlight the potential of hiNSCs for use as a patient-specific cellular therapy for MPS I.
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spelling doaj-art-7785a09a000e4ac897e9e0385a6ef38f2024-11-21T06:04:01ZengElsevierMolecular Therapy: Methods & Clinical Development2329-05012024-12-01324101367Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I miceCaitlin C. Calhoun0Shih-Hsin Kan1Alexander E. Stover2Jerry F. Harb3Edwin S. Monuki4Raymond Y. Wang5Philip H. Schwartz6Research Institute, Children’s Hospital of Orange County, Orange, CA, USAResearch Institute, Children’s Hospital of Orange County, Orange, CA, USA; Corresponding author: Shih-Hsin Kan, Research Institute, Children’s Hospital of Orange County, Orange, CA, USA.Research Institute, Children’s Hospital of Orange County, Orange, CA, USAResearch Institute, Children’s Hospital of Orange County, Orange, CA, USADepartment of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA; Department of Developmental and Cell Biology, Sue and Bill Gross Stem Cell Research Center, University of California, Irvine, Irvine, CA, USACHOC Children’s Specialists, Orange, CA, USA; Department of Pediatrics, University of California, Irvine, Irvine, CA, USAResearch Institute, Children’s Hospital of Orange County, Orange, CA, USA; Department of Developmental and Cell Biology, Sue and Bill Gross Stem Cell Research Center, University of California, Irvine, Irvine, CA, USA; Corresponding author: Philip H. Schwartz, Research Institute, Children’s Hospital of Orange County, Orange, CA, USA.Mucopolysaccharidosis type I (MPS I) is a metabolic disorder characterized by a deficiency in α-l-iduronidase (IDUA), leading to impaired glycosaminoglycan degradation. Current approved treatments seek to restore IDUA levels via enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). The effectiveness of these treatment strategies in preventing neurodegeneration is limited due to the inability of ERT to penetrate the blood-brain barrier (BBB) and HSCT’s limited CNS reconstitution of IDUA levels. We reprogrammed human cord blood cells into induced pluripotent stem cells (iPSCs), differentiated them into human induced neural stem cells (hiNSCs), and sorted them using fluorescence-activated cell sorting (FACS). Our in vitro studies showed that these hiNSCs can migrate and cross-correct IDUA deficiency. Purified hiNSCs were then transplanted into neonatal immunodeficient MPS I mice (Idua−/−). Analysis of brain tissue obtained 8 months after transplantation showed partially restored IDUA activity, with distribution and differentiation of engrafted hiNSCs throughout the brain into glial cell types. The presence of engrafted hiNSCs was associated with decreased levels of biomarkers commonly elevated in the Idua−/− mouse brain, such as β-hexosaminidase, CD68, and LAMP1, suggesting physiological efficacy. These results highlight the potential of hiNSCs for use as a patient-specific cellular therapy for MPS I.http://www.sciencedirect.com/science/article/pii/S2329050124001839cell- and tissue-based therapyinduced pluripotent stem cellneural stem cellNSCcell differentiationneurodegenerative diseases
spellingShingle Caitlin C. Calhoun
Shih-Hsin Kan
Alexander E. Stover
Jerry F. Harb
Edwin S. Monuki
Raymond Y. Wang
Philip H. Schwartz
Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice
Molecular Therapy: Methods & Clinical Development
cell- and tissue-based therapy
induced pluripotent stem cell
neural stem cell
NSC
cell differentiation
neurodegenerative diseases
title Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice
title_full Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice
title_fullStr Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice
title_full_unstemmed Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice
title_short Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice
title_sort human ipsc derived neural stem cells engraft and improve pathophysiology of mps i mice
topic cell- and tissue-based therapy
induced pluripotent stem cell
neural stem cell
NSC
cell differentiation
neurodegenerative diseases
url http://www.sciencedirect.com/science/article/pii/S2329050124001839
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