iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth
Open accessAbstract
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and is closely linked with autism. The genetic basis of FXS is an expansion of CGG repeats in the 5′-untranslated region of the FMR1 gene on the X chromosome leading to the loss of expression of the fragile X mental retardation protein (FMRP). The cause of FXS has been known for over 20 years, yet the full molecular and cellular consequences of this mutation remain unclear. Although mouse and fly models have provided significant understanding of this disorder and its effects on the central nervous system, insight from human studies is limited. We have created human induced pluripotent stem cell (iPSC) lines from fibroblasts obtained from individuals with FXS to enable in vitro modeling of the human disease. Three young boys with FXS who came from a well-characterized cohort representative of the range of affectedness typical for the syndrome were recruited to aid in linking cellular and behavioral phenotypes. The FMR1 mutation is preserved during the reprogramming of patient fibroblasts to iPSCs. Mosaicism of the CGG repeat length in one of the patient's fibroblasts allowed for the generation of isogenic lines with differing CGG repeat lengths from the same patient. FXS forebrain neurons were differentiated from these iPSCs and display defective neurite initiation and extension. These cells provide a well-characterized resource to examine potential neuronal deficits caused by FXS as well as the function of FMRP in human neurons.
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Reductions in neurite outgrowth, dendritic arborization, and excitatory synapses are commonly observed in cellular models of gene mutation, including SHANK3, FMR1, and CACNA1C.
“Reductions in neurite outgrowth, dendritic arborization and excitatory synapses are neuronal phenotypes that have been commonly observed in cellular models of gene mutation, including models of SHANK3 (Shcheglovitov et al., 2013; Yi et al., 2016), FMR1 (Doers et al., 2014) and CACNA1C (Krey et al., 2013).”
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- Authors
- Doers, M. E., Musser, M. T., Nichol, R., Berndt, E. R., Baker, M., Gomez, T. M., Zhang, S.-C., Abbeduto, L., & Bhattacharyya, A.
- Affiliations
- University of Wisconsin–Madison (US)
- University of Wisconsin-Madison
- Corresponding author
- Bhattacharyya, Anita
- Venue
- Stem Cells and Development
- Publisher
- SAGE Publications
- Published
- 2014-03-24
- Volume
- 23
- Issue
- 15
- Pages
- 1777-1787
- ISSN
- 1525-8165 (ISSN-L)
- 1547-3287
- 1557-8534
- PMC
- PMC4103262
- OpenAlex
- W2329426942
- Cited by
- 165
- References
- 68
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 8 · 2023: 12 · 2022: 4 · 2021: 18 · 2020: 24 · 2019: 17 · 2018: 18 · 2017: 11 · 2016: 22 · 2015: 19 · 2014: 4
- FWCI
- 12.11
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Stem Cells and Development (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- FRAXA Research Foundation
- Waisman Center (P30 HD03352, HD03352)
- National Institutes of Health (NIH-R01, UL1TR000427, HD033.52, NS41564)
- Institute for Clinical and Translational Research, University of Wisconsin, Madison (UL1TR000427)
- National Institute of General Medical Sciences (T32GM007507)
- National Institute of Neurological Disorders and Stroke (R21NS088477, R01NS041564)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD054764, P30HD003352)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- fragile X syndrome, induced pluripotent stem cells, forebrain neurons, neurite outgrowth, FMRP, FMR1 gene, CGG repeat expansion, intellectual disability, autism spectrum disorder, isogenic iPSC lines, neuronal differentiation, disease modeling
- MeSH terms
- Cell Differentiation, Cell Line, Child, Child, Preschool, Fragile X Syndrome, Humans, Male, Neurites, Prosencephalon, Induced Pluripotent Stem Cells
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