Aberrant differentiation of glutamatergic cells in neocortex of mouse model for fragile X syndrome.
Open accessAbstract
The lack of fragile X mental retardation protein (FMRP) causes fragile X syndrome, a common form of inherited mental retardation. Our previous studies revealed alterations in the differentiation of FMRP-deficient neural progenitors. Here, we show abnormalities in neurogenesis in the mouse and human embryonic FMRP-deficient brain as well as after in utero transfection of I304N mutated FMRP, which acts in a dominant negative manner in the wild-type mouse brain. Progenitors accumulated abnormally in the subventricular zone of the embryonic Fmr1-knockout (Fmr1-KO) mouse neocortex. An increased density of cells expressing sequentially an intermediate progenitor marker, T-box transcription factor (Tbr2), and a postmitotic neuron marker, T-brain 1 (Tbr1), indicated that the differentiation to glutamatergic cell lineages was particularly disturbed. These abnormalities were associated with an increased density of pyramidal cells of the layer V in the early postnatal neocortex suggesting a role for FMRP in the regulation of the differentiation of neocortical glutamatergic neurons.
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Loss of FMRP-mediated translational control results in altered cell fate specification during early neural development.
“Loss of FMRP-mediated translational control results in altered cell fate specification during early neural development (Tervonen et al., 2009; Saffary and Xie, 2011; Utami et al., 2020).”
From Astrocytes in fragile X syndrome (2024) · cites this paper as Tervonen et al., 2009
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The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)
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“Numerous studies have demonstrated the presence of FMRP in glutamatergic (excitatory) neurons (Huber et al., 2002; Antar et al., 2004; Tervonen et al., 2009) and in non-neuronal cell types such as GFAP or NG2 glia (Pacey and Doering, 2007).”
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“First, the Fragile X Syndromecausing knockdown or loss of FMRP (a syndromic ASD) in neural progenitor cells enhanced glutamatergic neuronal differentiation and, possibly, increased the glutamatergic neuronal number (Jeon et al., 2014; Tervonen et al., 2009).”
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“2008), which we previously showed to be abnormal in Fmr1-KO mice (Tervonen et al., 2009), we studied more thoroughly the ATP responses in differentiating NPCs lacking FMRP.”
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“…abnormalities in the early development in FXS, including abnormal differentiation of neural progenitor cells (NPCs) and impaired migration of newly born neurons (Castrén et al., 2005; Tervonen et al., 2009; Callan and Zarnescu, 2011; Saffary and Zhigang, 2011; Sheridan et al., 2011; Castren, 2012).”
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“Moreover, studies have shown that neuronal progenitor cells of Fmr1 knockout mice exhibit aberrant migration and differentiation (Castren et al., 2005; Tervonen et al., 2009; Saffary and Xie, 2011).”
BackgroundTreatment of Neurodevelopmental Disorders in Adulthood
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“However, recent studies indicate that the loss of FMRP is associated with deficiencies at multiple developmental stages, including differentiation of human neural stem cells (Castrén et al., 2005; Tervonen et al., 2009; Sheridan et al., 2011).”
BackgroundTranslating neural stem cells to neurons in the mammalian brain
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“In addition, mouse models of the syndrome have revealed alterations in neurogenesis and early neuroblast differentiation, particularly affecting the glutamatergic population [8].”
BackgroundNeural precursor lineages specify distinct neocortical pyramidal neuron types.
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“Empirical evidence from mouse models of fragile X syndrome, which exhibit a significant expansion in bIPCs (Tervonen et al., 2009), and Down syndrome, which show a specific deficit in aIPC production (Tyler and Haydar, 2013), support this hypothesis.”
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“FMRP, the protein produced by the FMR1 gene, is important in embryonic development, including the differentiation and migration of neurons and glia cells, for regulation of synaptic plasticity throughout life and for adult neurogenesis [6-9].”
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Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
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The developmental roles of FMRP
Till, S. M. (2010) · Biochemical Society Transactions · doi:10.1042/bst0380507 · Cited by 43 · see citing works
Altered cortical Cytoarchitecture in the Fmr1 knockout mouse
Lee, F. H. F., Lai, T. K. Y., Su, P., & Liu, F. (2019) · Molecular Brain · doi:10.1186/s13041-019-0478-8 · Cited by 43 · see citing works
Abnormal neuronal morphology and neurochemistry in the auditory brainstem of Fmr1 knockout rats.
Ruby, K., Falvey, K., & Kulesza, R. J. (2015) · Neuroscience · doi:10.1016/j.neuroscience.2015.06.061 · Cited by 41 · see citing works
“Finally, there is evidence that pharmaceutical therapies directed at GABA receptors reduce FXS symptoms (Tervonen et al., 2009; Olmos-Serrano et al., 2010, 2011; Heulens et al., 2012).”
Serotonin dysregulation in Fragile X Syndrome: implications for treatment
Hanson, A. C., & Hagerman, R. J. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01027 · Cited by 40 · see citing works
“Defects in hippocampal neurogenesis lead to cognitive deficits in the adult Fmr1 KO (56) and correlates with the hippocampal neurogenesis defects observed in individuals with FXS (57).”
Heads‐up: New roles for the fragile X mental retardation protein in neural stem and progenitor cells
Callan, M. A., & Zarnescu, D. C. (2011) · genesis · doi:10.1002/dvg.20745 · Cited by 39 · see citing works
“The increase in neurons resembles the findings from mouse embryonic and early postnatal development (Tervonen et al., 2009) but is in contrast to the findings from adult NPCs (Luo et al., 2010).”
BackgroundMethodResultInfluentialAbove genetics: Lessons from cerebral development in autism
Williams, E., & Casanova, M. F. (2011) · Translational Neuroscience · doi:10.2478/s13380-011-0016-3 · Cited by 37 · see citing works
MicroRNA-129 modulates neuronal migration by targeting Fmr1 in the developing mouse cortex
Wu, C., Zhang, X., Chen, P., Ruan, X., Liu, W., Li, Y., Sun, C., Hou, L., Yin, B., Qiang, B., et al. (2019) · Cell Death and Disease · doi:10.1038/s41419-019-1517-1 · Cited by 37 · see citing works
A Comparative Perspective on Wnt/β-Catenin Signalling in Cell Fate Determination
Garcin, C. L., & Habib, S. J. (2017) · Results and problems in cell differentiation · doi:10.1007/978-3-319-53150-2_15 · Cited by 36 · see citing works
Gatto, C. L., & Broadie, K. S. (2011) · Developmental Biology · doi:10.1016/j.ydbio.2011.05.001 · Cited by 32 · see citing works
“…FMRP in both murine and Drosophilamodels has recently been implicated in controlling cellular proliferation and fate specification, both in germline (Epstein et al., 2009; Yang et al., 2007) and neural stem cells (Callan et al., 2010; Castren et al., 2005; Luo et al., 2010; Tervonen et al., 2009).”
FMRP Regulates Neurogenesis In Vivo in Xenopus laevis Tadpoles
Faulkner, R. L., Wishard, T. J., Thompson, C. K., Liu, H.-H., & Cline, H. T. (2014) · eNeuro · doi:10.1523/eneuro.0055-14.2014 · Cited by 32 · see citing works
“In FXS human embryonic stem cells (ESCs) and embryonic and early postnatal mouse cortex, loss of functional FMRP does not appear to alter cell proliferation (Castren et al., 2005; Bhattacharyya et al., 2008; Tervonen et al., 2009).”
BackgroundInfluentialBrick, D. J., Nethercott, H. E., Montesano, S., Bañuelos, M. G., Stover, A. E., Schutte, S. S., O’Dowd, D. K., Hagerman, R. J., Ono, M. Y., Hessl, D. R., et al. (2014) · Stem Cells Translational Medicine · doi:10.5966/sctm.2014-0073 · Cited by 31 · see citing works
Danesi, C., Achuta, V. S., Corcoran, P., Peteri, U., Turconi, G., Matsui, N., Albayrak, I., Rezov, V., Isaksson, A., & Castrén, M. L. (2018) · Stem Cell Reports · doi:10.1016/j.stemcr.2018.11.003 · Cited by 31 · see citing works
Self-citationNMD abnormalities during brain development in the Fmr1-knockout mouse model of fragile X syndrome
Kurosaki, T., Sakano, H., Pröschel, C., Wheeler, J., Hewko, A., & Maquat, L. E. (2021) · Genome biology · doi:10.1186/s13059-021-02530-9 · Cited by 24 · see citing works
Jeon, S. J., Kim, J., Kim, K. C., Han, S. M., Go, H. S., Seo, J. E., Choi, C. S., Ryu, J. H., Shin, C. Y., & Song, M. (2013) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-013-0014-9 · Cited by 23 · see citing works
“Fmr1 KO mice may explain the increased neuronal differentiation of Tbr1 glutamatergic neurons in the cortex (Tervonen et al. 2009).”
BackgroundInfluentialAchuta, V. S., Rezov, V., Uutela, M., Louhivuori, V., Louhivuori, L., & Castrén, M. L. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.3753-13.2014 · Cited by 22 · see citing works
“Immunostaining of brain sections was performed as described previously (Tervonen et al., 2009).”
BackgroundMethodInfluentialSelf-citationMaking sense of mRNA landscapes: Translation control in neurodevelopment
Park, Y., Page, N. F., Salamon, I., Li, D., & Rašin, M. (2021) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1674 · Cited by 21 · see citing works
“…and promoting radial migration, dendrite and dendritic spine development, circuit function, and plasticity (Cunningham et al., 2011; De Rubeis et al., 2013; Goncalves et al., 2013; Hays et al., 2011; La Fata et al., 2014; Nagaoka et al., 2016; Saffary & Xie, 2011; Tervonen et al., 2009).”
BackgroundThe Role of Dynamic miRISC During Neuronal Development
Nawalpuri, B., Ravindran, S., & Muddashetty, R. S. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.00008 · Cited by 19 · see citing works
“Multiple other miRISC interacting proteins, such as FMRP, Pumilio, and Hu family of proteins have been shown to play an indispensable role in regulation of neuronal differentiation (Kasashima et al., 1999; Anderson et al., 2000; Akamatsu et al., 2002; Castren et al., 2005; Tervonen et al., 2009).”
BackgroundIncreasing our understanding of human cognition through the study of fragile X syndrome
Cook, D., Nuro, E., & Murai, K. K. (2013) · Developmental Neurobiology · doi:10.1002/dneu.22096 · Cited by 20 · see citing works
“…shown to alter cortical plate development by affecting both the transition from radial glial cells to intermediate precursor cells and the differentiation of excitatory glutamatergic cells (Tervonen et al., 2009; Saffary and Xie, 2011), offering further support for the role of FMRP in neurogenesis.”
BackgroundRegulation of Adult Neurogenesis by the Fragile X Family of RNA Binding Proteins
Patzlaff, N. E., Shen, M., & Zhao, X. (2017) · Brain Plasticity · doi:10.3233/bpl-170061 · Cited by 16 · see citing works
“In the mouse neocortex, loss of FMRP increased the proliferation of TBR2 + cells, leading to an increase in the number of pyramidal neurons, specifically in layer V of the cortex [180].”
BackgroundFunctional implications of hippocampal adult neurogenesis in intellectual disabilities
Pons‐Espinal, M., de Lagrán, M. M., & Dierssen, M. (2013) · Amino Acids · doi:10.1007/s00726-013-1489-x · Cited by 18 · see citing works
“…vitro Increased neurons with defects in differentiation and reduced glial cells from NPC (Castren et al. 2005) fmr1-KO Mouse E13 In vivo Increased BrdU positive cells in SVZ fmr1-KO Mouse E13–17 In vivo Increased number of intermediate NPC in the neocortex (Tervonen et al. 2009) fmr1-KO Mouse E11.”
BackgroundFmrp regulates oligodendrocyte lineage cell specification and differentiation
Doll, C. A., Scott, K., & Appel, B. (2021) · Glia · doi:10.1002/glia.24041 · Cited by 14 · see citing works
“Moreover, FXS models show disproportionate ratios of cell types throughout the nervous system, including excess glutamatergic neurons and astrocytes (Tervonen et al., 2009; Luo et al., 2010); fewer microglia and parvalbumin interneurons (Lee et al., 2019); and a reduction in white matter…”
BackgroundInfluentialKoivuniemi, R., Mäkelä, J., Hokkanen, M., Bruelle, C., Ho, T. H., Ola, R., Korhonen, L., Schröder, J., Kataoka, H., & Lindholm, D. (2013) · PLoS ONE · doi:10.1371/journal.pone.0056117 · Cited by 15 · see citing works
“01% Fast Green (Sigma) were injected with a glass capillary needle through the uterine wall into the lateral ventricle and the brains were electroporated with forceps-type electrodes (CUY650P3, Sonidel) using a square-wave pulse generator (CUY21SC, Sonidel) in an dorsal to lateral direction [53].”
MethodSelf-citationSourial, M. M., & Doering, L. C. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00126 · Cited by 13 · see citing works
“…plasticity (Bassell and Warren, 2008; Darnell et al., 2011), and has been implicated in regulating the proliferation and differentiation of embryonic and adult neural precursor cells (NPCs) (Castrén et al., 2005; Eadie et al., 2009; Tervonen et al., 2009; Luo et al., 2010; Guo et al., 2011).”
BackgroundDanesi, C., KEINÄNEN, K. P., & Castrén, M. L. (2019) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2019.00002 · Cited by 12 · see citing works
“…changes of Ca2+ signaling can contribute to altered fate determination, differentiation, and migration of FXS neural progenitors (Castren et al., 2005; Tervonen et al., 2009; Saffary and Xie, 2011; Sheridan et al., 2011; Liu et al., 2012; Doers et al., 2014; Li and Zhao, 2014; Telias et al., 2015).”
BackgroundSelf-citationFragile X family members have important and non-overlapping functions
Winograd, C., & Ceman, S. (2011) · BioMolecular Concepts · doi:10.1515/bmc.2011.033 · Cited by 10 · see citing works
Neocortical development as an evolutionary platform for intragenomic conflict
Lewitus, É., & Kalinka, A. T. (2013) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2013.00002 · Cited by 9 · see citing works
“…of Tbr2+ cells in the ventricular zone (VZ) and subventricular zone (SVZ) at embryonic day 17 (Castrén et al., 2005) and neural progenitor cells in cortical layers adjacent to the lateral ventricle (Tervonen et al., 2009), resulting in increased cell density in layer V of the postnatal neocortex.”
BackgroundAstrocytes in fragile X syndrome
Talvio, K., & Castrén, M. L. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1322541 · Cited by 8 · see citing works
Self-citationProgress toward therapeutic potential for AFQ056 in Fragile X syndrome
Doering, L. C., Sourial, M. M., & Cheng, C. (2013) · Journal of Experimental Pharmacology · doi:10.2147/jep.s27044 · Cited by 8 · see citing works
Fmrp regulates neuronal balance in embryonic motor circuit formation
Barker, C. M., Miles, K. D., & Doll, C. A. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.962901 · Cited by 7 · see citing works
“In addition, it is increasingly clear that FMRP function in stem/progenitor cells provides crucial regulation of the specification and differentiation of unique cell types (Tervonen et al., 2009; Edens et al., 2019; Doll et al., 2021; Raj et al., 2021; Zhang et al., 2022).”
BackgroundShorvon, S. D., Andermann, F., & Guerrini, R. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511921001.016 · Cited by 7 · see citing works
Posttranscriptional and translational control of neurogenesis
Alsina, F. C., & Silver, D. L. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814405-3.00028-x · Cited by 6 · see citing works
The role of brain-derived neurotrophic factor in neural circuit development and function
Autry, A. E., & Bambah-Mukku, D. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-823672-7.00020-x · Cited by 6 · see citing works
Avraham, O., Deng, P., Maschi, D., Klyachko, V. A., & Cavalli, V. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.796070 · Cited by 6 · see citing works
“These observations are consistent with developmental delays suggested in mouse cortical neurons (Tervonen et al., 2009; Saffary and Xie, 2011; Edens et al., 2019), as well as in human neurons and forebrain organoids (Sunamura et al.”
BackgroundTalvio, K., Minkeviciene, R., Townsley, K. G., Achuta, V. S., Huckins, L. M., Corcoran, P., Brennand, K. J., & Castrén, M. L. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1034679 · Cited by 5 · see citing works
“We showed that FXS NPCs during early differentiation in vitro display speci fi c gene expression changes, which are consistent with the impact of lack of FMRP seen on molecular and functional properties of neuronal cells and clinical phenotype (Davis and Broadie, 2017; Salcedo-Arellano et al., 2020; Utami et al., 2020).”
InfluentialSelf-citationFMRP Regulates Neurogenesis In Vivo in Xenopus laevis Tadpoles
Faulkner, R. L., Wishard, T. J., Thompson, C. K., Liu, H.-H., & Cline, H. T. (2015) · eNeuro · doi:10.1523/eneuro.0055-14.2015 · Cited by 5 · see citing works
Castrén, M. L. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_3 · Cited by 4 · see citing works
Self-citationFragile X Mental Retardation Protein and Stem Cells
Qurashi, A., Li, X., & Jin, P. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_8 · Cited by 2 · see citing works
“So far, the results from NSCs from Drosophila, mice, and human patients provide a unique window to study the function of FMRP in regulating NSCs and neurogenesis both in vitro and in vivo (Callan et al. 2010; Castren et al. 2005; Luo et al. 2010; Tervonen et al. 2009).”
Understanding pathophysiology in fragile X syndrome: a comprehensive review
Juárez, J. C. C., Gómez, A. A., Díaz, A. E. S., & Arévalo, G. S. (2024) · Neurogenetics · doi:10.1007/s10048-024-00794-4 · Cited by 1 · see citing works
Modeling FXS with Mouse Neural Progenitors
Peteri, U., & Castrén, M. L. (2019) · Methods in molecular biology · doi:10.1007/978-1-4939-9080-1_6 · Cited by 1 · see citing works
Self-citationUltrasound and Autism: How Disrupted Redox Homeostasis and Transient Membrane Porosity Confer Risk
Williams, E. L., & Casanova, M. F. (2014) · Oxidative stress in applied basic research and clinical practice · doi:10.1007/978-1-4939-0440-2_18
Role of mGluR5 and FMRP in mouse primary somatosensory cortex
Wijetunge, L. S. (2009) · OpenGrey (Institut de l'Information Scientifique et Technique)
Variabilidade do domínio KH-2 da proteína do retardo mental do X frágil (FMRP)
Velloso, F. J. (2013) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2013.tde-21032014-090729
Devine, I. M., & Stafstrom, C. E. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511921001.042
Molecular mechanisms involved in altered differentiation of neural progenitors in Fragile X Syndrome
Achuta, V. S. (2018) · Työväentutkimus Vuosikirja
Nucleocytoplasmic Transport of RNA-Binding Proteins Regulates Neural Stem Cell FatesPreprint
MacPherson, M. J., Erickson, S. L., Kopp, D., Wen, P., Aghanoori, M., Vitobello, A., Thomas, Q., Gold, N. B., Brucker, W. J., Amlie‐Wolf, L., et al. (2020) · Research Square · doi:10.21203/rs.3.rs-115227/v1
“For example, disruption of FMR1 and DDX3X that are involved in RNA metabolisms leads to impaired neurogenesis and is linked to intellectual disability (ID) and cortical malformations (Lennox et al., 2020; Mila et al., 2018; Snijders Blok et al., 2015; Tervonen et al., 2009).”
BackgroundKurosaki, T., Sakano, H., Pröschel, C., Wheeler, J., Hewko, A., & Maquat, L. E. (2021) · Figshare · doi:10.6084/m9.figshare.17030664
Kurosaki, T., Sakano, H., Pröschel, C., Wheeler, J., Hewko, A., & Maquat, L. E. (2021) · Figshare · doi:10.6084/m9.figshare.17030667
Kurosaki, T., Sakano, H., Pröschel, C., Wheeler, J., Hewko, A., & Maquat, L. E. (2021) · Figshare · doi:10.6084/m9.figshare.17030673
Kurosaki, T., Sakano, H., Pröschel, C., Wheeler, J., Hewko, A., & Maquat, L. E. (2021) · Figshare · doi:10.6084/m9.figshare.17030676
Paluszkiewicz, S. M. (2011) · DigitalGeorgetown (Georgetown University Library)
- Authors
- Tervonen, T. A., Louhivuori, V., Sun, X., Hokkanen, M.-E., Kratochwil, C. F., Zebryk, P., Castrén, E., & Castrén, M. L.
- Affiliations
- University of Helsinki (FI)
- Corresponding author
- Castrén, Maija L.
- Venue
- Neurobiology of Disease
- Publisher
- Elsevier BV
- Published
- 2009-02
- Volume
- 33
- Issue
- 2
- Pages
- 250-259
- ISSN
- 0969-9961 (ISSN-L)
- OpenAlex
- W2047450823
- Cited by
- 82
- References
- 55
- Citations by year
- 2024: 2 · 2022: 3 · 2021: 9 · 2020: 4 · 2019: 6 · 2018: 5 · 2017: 4 · 2016: 6 · 2015: 4 · 2014: 8 · 2013: 9 · 2012: 2
- FWCI
- 3.81
- Type
- journal article
- Language
- en
- Open access
- green
- doaj.org
- Licence
- Locations
- Neurobiology of Disease (publishedVersion)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Helsingin Yliopisto
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- fragile X syndrome, FMRP, Fmr1 knockout mice, glutamatergic neurons, neocortex, neurogenesis, intermediate progenitor cells, Tbr2, Tbr1, subventricular zone, pyramidal neurons, layer V, embryonic brain
- MeSH terms
- Fatty Acid-Binding Protein 7, Animals, Animals, Newborn, Cell Differentiation, Disease Models, Animal, DNA-Binding Proteins, Fragile X Syndrome, Mutation, Nerve Tissue Proteins, Neurons, Stem Cells, Pyramidal Cells, Mice, Knockout, Glutamic Acid, Cell Lineage, Neocortex, T-Box Domain Proteins, Excitatory Amino Acid Transporter 1, Fatty Acid-Binding Proteins, Mice, Fragile X Messenger Ribonucleoprotein 1, Fragile X Mental Retardation Protein, Neurogenesis, Mesenchymal Stem Cells
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