Cited by 129Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusMetabolism and Genetic Disorders

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Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

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Panicker, Leelamma M., Miller, Diana, Park, Tea Soon, Patel, Brijesh, Azevedo, Judi L., Awad, Ola, Masood, M. Athar, Veenstra, Timothy D., Goldin, Ehud, Stubblefield, Barbara K., Tayebi, Nahid, Polumuri, Swamy K., Vogel, Stefanie N., Sidransky, Ellen, Zambidis, Elias T., Feldman, Ricardo A.·2012·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.1207889109PMC PMC3497826

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Abstract

Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β-glucocerebrosidase gene. To model GD, we generated human induced pluripotent stem cells (hiPSC), by reprogramming skin fibroblasts from patients with type 1 (N370S/N370S), type 2 (L444P/Rec NciI ), and type 3 (L444P/L444P) GD. Pluripotency was demonstrated by the ability of GD hiPSC to differentiate to all three germ layers and to form teratomas in vivo. GD hiPSC differentiated efficiently to the cell types most affected in GD, i.e., macrophages and neuronal cells. GD hiPSC-macrophages expressed macrophage-specific markers, were phagocytic, and were capable of releasing inflammatory mediators in response to LPS. Moreover, GD hiPSC-macrophages recapitulated the phenotypic hallmarks of the disease. They exhibited low glucocerebrosidase (GC) enzymatic activity and accumulated sphingolipids, and their lysosomal functions were severely compromised. GD hiPSC-macrophages had a defect in their ability to clear phagocytosed RBC, a phenotype of tissue-infiltrating GD macrophages. The kinetics of RBC clearance by types 1, 2, and 3 GD hiPSC-macrophages correlated with the severity of the mutations. Incubation with recombinant GC completely reversed the delay in RBC clearance from all three types of GD hiPSC-macrophages, indicating that their functional defects were indeed caused by GC deficiency. However, treatment of induced macrophages with the chaperone isofagomine restored phagocytosed RBC clearance only partially, regardless of genotype. These findings are consistent with the known clinical efficacies of recombinant GC and isofagomine. We conclude that cell types derived from GD hiPSC can effectively recapitulate pathologic hallmarks of the disease.

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Authors: Panicker, L. M., Miller, D., Park, T. S., Patel, B., Azevedo, J. L., Awad, O., Masood, M. A., Veenstra, T. D., Goldin, E., Stubblefield, B. K., Tayebi, N., Polumuri, S. K., Vogel, S. N., Sidransky, E., Zambidis, E. T., & Feldman, R. A.
Affiliations: University of Maryland, Baltimore (US)
Johns Hopkins University (US)
Frederick National Laboratory for Cancer Research (US)
National Institutes of Health (US)
ORCID: Park, Tea Soon
Awad, Ola
Veenstra, Timothy D.
Tayebi, Nahid
Vogel, Stefanie N.
Sidransky, Ellen
Zambidis, Elias T.
Feldman, Ricardo A.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2012-10-15
Volume: 109
Issue: 44
Pages: 18054-18059
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.1207889109
PMC: PMC3497826
OpenAlex: W2081102375
Cited by: 129
References: 38
Citations by year: 2026: 5 · 2025: 6 · 2024: 5 · 2023: 7 · 2022: 16 · 2021: 7 · 2020: 11 · 2019: 6 · 2018: 6 · 2017: 10 · 2016: 9 · 2015: 15 · 2014: 17 · 2013: 6 · 2012: 1
FWCI: 8.36
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: March of Dimes Foundation (Grant 6-FY10-334, 6-FY10-334)
Maryland Stem Cell Research Fund (2009-MSCRFII-0082-00, 2007-MSCRFE-0110-00, 2011-MSCRF-II-0008-00, 2007-MSCRF II-0379-00)
National Institutes of Health
National Heart, Lung, and Blood Institute (U01HL100397, R03HL096220, U01HL099775)
National Institute of Allergy and Infectious Diseases (R01AI018797)
Topics: Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: Gaucher disease, induced pluripotent stem cells, macrophages, erythrocyte clearance, sphingolipid accumulation, lysosomal dysfunction, isofagomine, recombinant enzyme therapy, disease modeling, macrophage differentiation
MeSH terms: Cell Differentiation, Gaucher Disease, Humans, Macrophage Activation, Models, Biological, Cell Lineage, Pluripotent Stem Cells

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Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

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