Cited by 322Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative DiseasesAlzheimer's disease research and treatments

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Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

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Almeida, Sandra, Gascon, Eduardo, Tran, Hélène, Chou, Hsin Jung, Gendron, Tania F., DeGroot, Steven, Tapper, Andrew R., Sellier, Chantal, Charlet-Berguerand, Nicolas, Karydas, Anna, Seeley, William W., Boxer, Adam L., Petrucelli, Leonard, Miller, Bruce L., Gao, Fen-Biao·2013·Acta Neuropathologica

DOI 10.1007/s00401-013-1149-yPMC PMC3753484

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Abstract

The recently identified GGGGCC repeat expansion in the noncoding region of C9ORF72 is the most common pathogenic mutation in patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). We generated a human neuronal model and investigated the pathological phenotypes of human neurons containing GGGGCC repeat expansions. Skin biopsies were obtained from two subjects who had >1,000 GGGGCC repeats in C9ORF72 and their respective fibroblasts were used to generate multiple induced pluripotent stem cell (iPSC) lines. After extensive characterization, two iPSC lines from each subject were selected, differentiated into postmitotic neurons, and compared with control neurons to identify disease-relevant phenotypes. Expanded GGGGCC repeats exhibit instability during reprogramming and neuronal differentiation of iPSCs. RNA foci containing GGGGCC repeats were present in some iPSCs, iPSC-derived human neurons and primary fibroblasts. The percentage of cells with foci and the number of foci per cell appeared to be determined not simply by repeat length but also by other factors. These RNA foci do not seem to sequester several major RNA-binding proteins. Moreover, repeat-associated non-ATG (RAN) translation products were detected in human neurons with GGGGCC repeat expansions and these neurons showed significantly elevated p62 levels and increased sensitivity to cellular stress induced by autophagy inhibitors. Our findings demonstrate that key neuropathological features of FTD/ALS with GGGGCC repeat expansions can be recapitulated in iPSC-derived human neurons and also suggest that compromised autophagy function may represent a novel underlying pathogenic mechanism.

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Authors: Almeida, S., Gascon, E., Tran, H., Chou, H. J., Gendron, T. F., DeGroot, S., Tapper, A. R., Sellier, C., Charlet-Berguerand, N., Karydas, A., Seeley, W. W., Boxer, A. L., Petrucelli, L., Miller, B. L., & Gao, F.-B.
Affiliations: University of Massachusetts Chan Medical School (US)
Mayo Clinic in Florida (US)
Centre National de la Recherche Scientifique (FR)
University of California, San Francisco (US)
Corresponding author: Gao, Fen-Biao
ORCID: Almeida, Sandra
Gascon, Eduardo
Tran, Hélène
Gendron, Tania F.
DeGroot, Steven
Tapper, Andrew R.
Sellier, Chantal
Seeley, William W.
Boxer, Adam L.
Petrucelli, Leonard
Miller, Bruce L.
Gao, Fen-Biao
Venue: Acta Neuropathologica
Publisher: Springer Science and Business Media LLC
Published: 2013-07-09
Volume: 126
Issue: 3
Pages: 385-399
ISSN: 0001-6322 (ISSN-L)
1432-0533
DOI: 10.1007/s00401-013-1149-y
PMC: PMC3753484
OpenAlex: W2113670539
Cited by: 321
References: 50
Citations by year: 2026: 6 · 2025: 9 · 2024: 10 · 2023: 15 · 2022: 6 · 2021: 21 · 2020: 28 · 2019: 30 · 2018: 23 · 2017: 34 · 2016: 40 · 2015: 49 · 2014: 36 · 2013: 12
FWCI: 29.00
Type: journal article
Language: en
Update notices: correction (2014-04-09)
Open access: hybrid
doi.org
Licence: cc-by
creativecommons.org/licenses/by/2.0 (unspecified)
Locations: Acta Neuropathologica (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
The Journal of the American Medical Association (JAMA) Network (American Medical Association) (submittedVersion, cc-by)
HAL (submittedVersion, cc-by)
eScholarship (California Digital Library) (submittedVersion)
Funders: Mayo Clinic
California Institute for Regenerative Medicine (RL1-00650)
ALS Therapy Alliance
National Institutes of Health (AG023501, AG019724, NS063964, AG17216, NS057553)
National Institute on Aging (R56AG026251, AG 17216, AG023501, AG019724, P01AG017216, R01AG026251, R01AG038791, AG026251, P01AG019724, P50AG023501)
National Institute of Neurological Disorders and Stroke (R01NS063964, R01NS077402, NS057553, R01NS057553, R37NS057553, NS077402, NS063964)
Topics: Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Keywords: frontotemporal dementia, amyotrophic lateral sclerosis, C9orf72, GGGGCC repeat expansion, induced pluripotent stem cells, iPSC-derived neurons, RNA foci, repeat-associated non-ATG translation, p62, autophagy, fibroblast reprogramming, RNA-binding proteins, disease modeling
MeSH terms: C9orf72 Protein, Amyotrophic Lateral Sclerosis, Animals, Cell Differentiation, Genotype, Humans, Mutation, Neurons, Proteins, RNA-Binding Proteins, DNA Repeat Expansion, Mice, Induced Pluripotent Stem Cells, Frontotemporal Dementia

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Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

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