Developmental alterations in Huntington’s disease neural cells and pharmacological rescue in cells and mice
Open accessAbstract
Neural cultures derived from Huntington's disease (HD) patient-derived induced pluripotent stem cells were used for 'omics' analyses to identify mechanisms underlying neurodegeneration. RNA-seq analysis identified genes in glutamate and GABA signaling, axonal guidance and calcium influx whose expression was decreased in HD cultures. One-third of gene changes were in pathways regulating neuronal development and maturation. When mapped to stages of mouse striatal development, the profiles aligned with earlier embryonic stages of neuronal differentiation. We observed a strong correlation between HD-related histone marks, gene expression and unique peak profiles associated with dysregulated genes, suggesting a coordinated epigenetic program. Treatment with isoxazole-9, which targets key dysregulated pathways, led to amelioration of expanded polyglutamine repeat-associated phenotypes in neural cells and of cognitive impairment and synaptic pathology in HD model R6/2 mice. These data suggest that mutant huntingtin impairs neurodevelopmental pathways that could disrupt synaptic homeostasis and increase vulnerability to the pathologic consequence of expanded polyglutamine repeats over time.
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The increased white matter and neuropil density alongside striatal volume loss in R6/2 mice might arise from impaired neurite outgrowth or disrupted synapses in Huntington's disease.
“the enhanced white matter and neuropil density coincident with striatal volume loss in R6/2 mice may stem from impaired neurite outgrowth”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as Lim et al., 2017
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- Authors
- The HD iPSC Consortium, Lim, R. G., Salazar, L. L., Wilton, D. K., King, A. R., Stocksdale, J. T., Sharifabad, D., Lau, A. L., Stevens, B., Reidling, J. C., Winokur, S. T., Casale, M. S., Thompson, L. M., Pardo, M., Díaz-Barriga, A. G. G., Straccia, M., Sanders, P., Alberch, J., Canals, J. M., Kaye, J. A., Dunlap, M., Jo, L., May, H., Mount, E., Anderson-Bergman, C., Haston, K., Finkbeiner, S., Kedaigle, A. J., Gipson, T. A., Yildirim, F., Ng, C. W., Milani, P., Housman, D. E., Fraenkel, E., Allen, N. D., Kemp, P. J., Atwal, R. S., Biagioli, M., Gusella, J. F., MacDonald, M. E., Akimov, S. S., Arbez, N., Stewart, J., Ross, C. A., Mattis, V. B., Tom, C. M., Ornelas, L., Sahabian, A., Lenaeus, L., Mandefro, B., Sareen, D., & Svendsen, C. N.
- Affiliations
- University of California, Irvine (US)
- Boston Children's Hospital (US)
- Biomedical Research Networking Center on Neurodegenerative Diseases (ES)
- Gladstone Institutes (US)
- Sandia National Laboratories California (US)
- Massachusetts Institute of Technology (US)
- Cardiff University (GB)
- Massachusetts General Hospital (US)
- Johns Hopkins University (US)
- Cedars-Sinai Medical Center (US)
- Corresponding author
- Thompson, Leslie M
- ORCID
- Lim, Ryan G
- Salazar, Lisa L
- Wilton, Daniel K
- Stocksdale, Jennifer T
- Stevens, Beth
- Thompson, Leslie M
- Straccia, Marco
- Sanders, Phil
- Alberch, Jordi
- Canals, Josep M
- Kaye, Julia A
- Anderson-Bergman, Cliff
- Finkbeiner, Steven
- Kedaigle, Amanda J
- Yildirim, Ferah
- Ng, Christopher W
- Milani, Pamela
- Housman, David E
- Fraenkel, Ernest
- Allen, Nicholas D
- Kemp, Paul J
- Biagioli, Marta
- Gusella, James F
- Akimov, Sergey S
- Arbez, Nicolas
- Ross, Christopher A
- Mattis, Virginia B
- Sahabian, Anais
- Sareen, Dhruv
- Svendsen, Clive N
- Venue
- Nature Neuroscience
- Published
- 2017-03-20
- Volume
- 20
- Issue
- 5
- Pages
- 648-660
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC5610046
- OpenAlex
- W2598373555
- Cited by
- 221
- References
- 92
- Citations by year
- 2026: 13 · 2025: 16 · 2024: 12 · 2023: 14 · 2022: 22 · 2021: 44 · 2020: 27 · 2019: 43 · 2018: 26 · 2017: 4
- FWCI
- 13.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nature Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Iris (University of Trento) (submittedVersion, other-oa)
- PMC
- Funders
- American Heart Association
- Hereditary Disease Foundation
- CHDI Foundation
- Cedars-Sinai Medical Center
- Ionis Pharmaceuticals
- Hellman Family Foundation
- European Commission (2014‐2020)
- Generalitat de Catalunya
- National Institutes of Health (UL1TR001414, NS091046, CA-62203, NS078370)
- University of California, Irvine (CA-62203)
- Instituto de Salud Carlos III
- European Regional Development Fund (2014-2020’, RD12/0019/0002)
- National Cancer Institute (P30CA062203)
- National Institute of General Medical Sciences (R01GM089903, T32GM087237, T32GM008334)
- National Institute of Neurological Disorders and Stroke (RC2NS069422, R01NS084298, R01NS091161, U54NS091046, U24NS078370, R37NS101996, R01NS086452, R01NS089076, R21NS090395, P50NS016367)
- National Institute of Environmental Health Sciences (P30ES002109)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD090255)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Huntington's disease, induced pluripotent stem cells, brain development, neuronal differentiation, glutamate signaling, GABA signaling, axon guidance, calcium influx, histone modifications, epigenetics, polyglutamine expansion, mutant huntingtin, striatal development, synaptic pathology, cognitive impairment, R6/2 mice, small molecule rescue
- MeSH terms
- Huntingtin Protein, Animals, Cells, Cultured, Corpus Striatum, Histones, Humans, Huntington Disease, Isoxazoles, Mice, Transgenic, Nerve Tissue Proteins, Neurons, Peptides, Thiophenes, Signal Transduction, Gene Expression, Gene Expression Profiling, Mice, Basic Helix-Loop-Helix Proteins, Neurogenesis, Gene Knockdown Techniques, Induced Pluripotent Stem Cells, Epigenomics, Cognitive Dysfunction
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