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Cited by 33Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchPluripotent Stem Cells Research

The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis

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Wang, Xiao-Ming, Yik, Wing Yan, Zhang, Peilin, Lu, Wange, Dranchak, Patricia K, Shibata, Darryl, Steinberg, Steven J, Hacia, Joseph G·2012·Stem Cell Research & Therapy
DOI 10.1186/scrt130PMC PMC3580430
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Abstract

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a complex disorder with variable expressivity that affects the nervous, adrenocortical and male reproductive systems. Although ABCD1 mutations are known to provide the genetic basis for X-ALD, its pathogenesis is not fully elucidated. While elevated very long chain fatty acid (VLCFA) levels in blood and reduced VLCFA catabolic activity in cultured fibroblasts are biomarkers used to identify ABCD1 mutation carriers, the roles peroxisomal lipid metabolism play in disease etiology are unknown. Methods: Primary skin fibroblasts from two male patients with the childhood cerebral form of the disease (CCALD) caused by ABCD1 frameshift or missense mutations and three healthy donors were transduced with retroviral vectors expressing the OCT4, SOX2, KLF4 and c-MYC factors. Candidate induced pluripotent stem cells (iPSCs) were subject to global gene expression, DNA methylation, DNA copy number variation, and genotyping analysis and tested for pluripotency through in vitro differentiation and teratoma formation. Saturated VLCFA (sVLCFA) and plasmalogen levels in primary fibroblasts and iPSCs from healthy donors as well as CCALD patients were determined through mass spectroscopy. Results: Skin fibroblasts from CCALD patients and healthy donors were reprogrammed into validated iPSCs. Unlike fibroblasts, CCALD patient iPSCs show differentially expressed genes (DEGs) relevant to both peroxisome abundance and neuroinflammation. Also, in contrast to fibroblasts, iPSCs from patients showed no significant difference in sVLCFA levels relative to those from controls. In all cell types, the plasmalogen levels tested did not correlate with ABCD1 mutation status. Conclusion: Normal ABCD1 gene function is not required for reprogramming skin fibroblasts into iPSCs or maintaining pluripotency. Relative to DEGs found in fibroblasts, DEGs uncovered in comparisons of CCALD patient and control iPSCs are more consistent with major hypotheses regarding disease pathogenesis. These DEGs were independent of differences in sVLCFA levels, which did not vary according to ABCD1 mutation status. The highlighted genes provide new leads for pathogenic mechanisms that can be explored in animal models and human tissue specimens. We suggest that these iPSC resources will have applications that include assisting efforts to identify genetic and environmental modifiers and screening for therapeutic interventions tailored towards affected cell populations and patient genotypes.

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  • Undifferentiated iPSCs from two cALD patients showed dysregulated expression of genes involved in peroxisome abundance and neuroinflammation.

    “Undifferentiated iPSCs from two cALD patients showed dysregulated expression of genes involved in peroxisome abundance and neuroinflammation [478].”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [478]

  • Early-passage iPSCs derived from AMN or cALD patients did not have elevated VLCFA levels compared to healthy controls in two studies.

    “At the pluripotent stem cell stage, early-passage iPSCs derived from AMN or cALD patients did not have elevated VLCFA levels compared to healthy controls in two studies [477,478]”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [478]

  • AMN patient-specific iPSC-derived OLs showed elevated VLCFA levels compared to healthy controls, but lower levels than those derived from cALD patients in two studies.

    “AMN patient-specific iPSC-derived OLs showed elevated VLCFA levels/, compared to healthy controls, but lower levels than those derived from cALD patients in two studies [477,478]”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [478]

    The Results section on comparative lipid profiling (page unavailable) measures CCALD fibroblasts and undifferentiated iPSCs, not AMN patient-derived oligodendrocytes. The Discussion mentions oligodendrocytes only as a cell type for future investigation. Searches for AMN oligodendrocytes and their VLCFA levels found no comparison with healthy controls or CCALD-derived oligodendrocytes in our copy. (LLM, conf=0.76)

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Cited by

Sorted by citations

Authors
Wang, X.-M., Yik, W. Y., Zhang, P., Lu, W., Dranchak, P. K., Shibata, D., Steinberg, S. J., & Hacia, J. G.
Affiliations
  • University of Southern California (US)
  • Kennedy Krieger Institute (US)
Corresponding author
Hacia, Joseph G
ORCID
Venue
Stem Cell Research & Therapy
Publisher
Springer Science and Business Media LLC
Published
2012-10-04
Volume
3
Issue
5
Pages
39-39
ISSN
1757-6512 (ISSN-L)
DOI
10.1186/scrt130
PMC
PMC3580430
OpenAlex
W2122072485
Cited by
33
References
9
Citations by year
2026: 1 · 2025: 3 · 2024: 1 · 2022: 3 · 2021: 1 · 2020: 3 · 2018: 1 · 2017: 1 · 2016: 7 · 2015: 8 · 2013: 3
FWCI
2.26
Type
journal article
Language
en
Open access
Licence
Locations
  • Stem Cell Research & Therapy (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • California Institute for Regenerative Medicine
  • California Institute of Regenerative Medicine
  • National Institutes of Health (GM072447)
  • National Institute of General Medical Sciences (R01GM072447, R01GM072477, GM 072447, GM072447-S1)
  • National Institute of Neurological Disorders and Stroke (R01NS067213)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
Keywords
childhood cerebral adrenoleukodystrophy, X-linked adrenoleukodystrophy, induced pluripotent stem cells, ABCD1 mutations, gene expression profiling, peroxisomal lipid metabolism, very long chain fatty acids, plasmalogens, neuroinflammation, peroxisome biogenesis, pathogenesis, DNA methylation
MeSH terms
Kruppel-Like Factor 4, Adolescent, Adrenoleukodystrophy, Cell Differentiation, Child, Child, Preschool, Genotype, Humans, Male, Cell Culture Techniques, DNA Methylation, Induced Pluripotent Stem Cells, Transcriptome

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