The Struggle of Neural Progenitors in Down Syndrome Brain: The Need for Neuromodulation Beyond Symptomatic Mitigations
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World Health Organization (WHO) (2019). No Title. Gene and Human Disease: Down Syndrome. https://www.who.int/genomics/public/ geneticdiseases/en/index1.html
Hoe TS, Boo NY & Clyde MM. Incidence of Down’s syndrome in a large Malaysian maternity hospital over an 18 month period. Singapore Medical Journal. 1989; 30(3):246–248. https://pubmed. ncbi.nlm.nih.gov/2531468/
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, & Reeves RH. Down syndrome. Nature Reviews Disease Primers. 2020; 6(1):1–20. doi:10.1038/s41572-019-0143-7
Vicari, S. Memory development and intellectual disabilities. Acta Paediatrica (Oslo, Norway : 1992). 2004; Supplement, 93(445):60–63. doi:10.1111/J.1651-2227.2004.TB03059.X
Vicari S. Motor development and neuropsychological patterns in persons with Down syndrome. Behavior Genetics. 2006; 36(3):355–
doi:10.1007/S10519-006-9057-8
Brown FR 3rd, Greer MK, Aylward EH, & Hunt HH. Intellectual and adaptive functioning in individuals with Down syndrome in relation to age and environmental placement. Pediatrics. 1990; 85(3 Pt 2):450–452.
Pennington BF, Moon J, Edgin J, Stedron J & Nadel L. The neuropsychology of Down syndrome: evidence for hippocampal dysfunction. Child Development. 2003; 74(1):75–93. doi:10.1111/1467-8624.00522
Devenny, DA, Silverman, WP, Hill, AL, Jenkins, E, Sersen, EA, & Wisniewski, KE. Normal ageing in adults with Down’s syndrome: a longitudinal study. Journal of Intellectual Disability Research. 1996; 40(3):208–221. doi:10.1111/J.1365-2788.1996. TB00624.X
Lott IT & Head E. Alzheimer disease and Down syndrome: factors in pathogenesis. Neurobiology of Aging. 2005;26(3):383–389. doi:10.1016/J. NEUROBIOLAGING.2004.08.005
Brown JH, Johnson MH, Paterson SJ, Gilmore R, Longhi E & Karmiloff-Smith A. Spatial representation and attention in toddlers with Williams syndrome and Down syndrome. Neuropsychologia. 2003; 41(8):1037–1046. doi:10.1016/S0028-3932(02)00299-3
Vicari S, Bellucci S & Carlesimo GA. Visual and spatial long-term memory: differential pattern of impairments in Williams and Down syndromes. Developmental Medicine and Child Neurology. 2005; 47(5):305–311. doi:10.1017/ S0012162205000599
Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A & Deutsch S. Chromosome 21 and Down syndrome: From genomics to pathophysiology. Nature Reviews Genetics. 2004; 5 (10):725–738. doi:10.1038/nrg1448
Pritchard MA & Kola I. The “gene dosage effect” hypothesis versus the “amplified developmental instability” hypothesis in Down syndrome. Journal of Neural Transmission. 1999; Supplement (57):293–303. doi:10.1007/978-3-7091-6380- 1_20
Delabar, JM, Theophile, D, Rahmani, Z, Chettouh, Z, Blouin, JL, Prieur, M, Noel, B, & Sinet, PM. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. European Journal of Human Genetics : EJHG. 1993; 1(2):114–124. doi:10.1159/000472398
Weis S, Weber G, Neuhold A & Rett A. Down syndrome: MR quantification of brain structures and comparison with normal control subjects. American Journal of Neuroradiology. 1991; 12(6):1207–1211.
Dierssen, M. Down syndrome: The brain in trisomic mode. Nature Reviews Neuroscience. 2012; 13(1)2:844–858. doi:10.1038/nrn3314
Guidi S, Bonasoni P, Ceccarelli C, Santini D, Gualtieri F, Ciani E & Bartesaghi R. Neurogenesis impairment and increased cell death reduce total neuron number in the hippocampal region of fetuses with Down syndrome. Brain Pathology. 2008; 18(2):180–197. doi:10.1111/j.1750-3639.2007.00113.x
Guidi S, Ciani E, Bonasoni P, Santini D & Bartesaghi R. Widespread proliferation impairment and hypocellularity in the cerebellum of fetuses with down syndrome. Brain Pathology. 2011; 21(4):361–373. doi:10.1111/j.1750-3639.2010.00459.x
Hewitt CA, Ling KH, Merson TD, Simpson KM, Ritchie ME, King SL, Pritchard MA, Smyth GK, Thomas T, Scott HS & Voss AK. Gene network disruptions and neurogenesis defects in the adult Ts1Cje mouse model of down syndrome. PLoS ONE. 2010; 5(7). doi:10.1371/journal. pone.0011561
Seth EA, Lee HC, Yusof HH, Nordin Norshariza, Cheah YK, Ho ETW, Ling KH, Cheah PS. Phenotype microarrays reveal metabolic dysregulations of neurospheres derived from embryonic Ts1Cje mouse model of Down syndrome. PLoS One. 2020;15(7): e0236826. doi:10.1371/journal. pone.0236826
Hibaoui Y, Grad I, Letourneau A, Sailani MR, Dahoun S, Santoni FA, Gimelli S, Guipponi M, Pelte MF, Béna F, Antonarakis SE & Feki A. Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. EMBO Molecular Medicine. 2014; 6(2):259–277. doi:10.1002/emmm.201302848
Zdaniuk G, Wierzba-Bobrowicz T, Szpak GM & Stȩpień T. Astroglia disturbances during development of the central nervous system in fetuses with Down’s syndrome. Folia Neuropathologica. 2011; 49(2), 109–114.
Contestabile, A, Fila, T, Ceccarelli, C, Bonasoni, P, Bonapace, L, Santini, D, Bartesaghi, R, & Ciani, E. Cell cycle alteration and decreased cell proliferation in the hippocampal dentate gyrus and in the neocortical germinal matrix of fetuses with down syndrome and in Ts65Dn mice. Hippocampus. 2007; 17(8):665–678. doi:10.1002/hipo.20308
Chen, C, Jiang, P, Xue, H, Peterson, SE, Tran, HT, McCann, AE, Parast, MM, Li, S, Pleasure, D E, Laurent, LC, Loring, JF, Liu, Y, & Deng, W. Role of astroglia in Down’s syndrome revealed by patient-derived human-induced pluripotent stem cells. Nature Communications. 2014; 5:4430. doi:10.1038/ncomms5430
Reiche L, Küry P & Göttle P. Aberrant Oligodendrogenesis in Down Syndrome: Shift in Gliogenesis? Cells. 2019; 8(12):1591. doi:10.3390/ cells8121591
Dossi, E, Vasile, F, & Rouach, N. Human astrocytes in the diseased brain. Brain Research Bulletin. 2018; 136:139–156. doi:10.1016/j. brainresbull.2017.02.001
Mizuno GO, Wang Y, Shi G, Wang Y, Sun J, Papadopoulos S, Broussard GJ, Unger EK, Deng W, Weick J, Bhattacharyya A, Chen CY, Yu G, Looger LL & Tian L. Aberrant calcium signaling in astrocytes inhibits neuronal excitability in a human Down syndrome stem cell model. Cell Reports. 2018; 24(2): 355–365. doi: 10.1016/j.celrep.2018.06.033
Araujo BHS, Kaid C, De Souza JS, Gomes da Silva S, Goulart E, Caires LCJ, Musso CM, Torres LB, Ferrasa A, Herai R, Zatz M, Okamoto OK, & Cavalheiro EA. Down Syndrome iPSC-derived astrocytes impair neuronal synaptogenesis and the mTOR pathway in vitro. Molecular Neurobiology. 2018; 55(7):5962–5975. doi:10.1007/s12035-017-0818-6
Flores-Aguilar L, Lulita, MF, Kovecses O, Torres MD, Levi SM, Zhang Y, Askenazi M, Wisniewski T, Busciglio J & Cuello AC. Evolution of neuroinflammation across the lifespan of individuals with down syndrome. Brain. 2020;143(12):3653– 3671. doi:10.1093/brain/awaa326
Zheng Q, Li G, Wang S, Zhou Y, Liu K, Gao Y, Zhou Y, Zheng L, Zhu L, Deng Q, Wu M, Di A, Zhang L, Zhao Y, Zhang H, Sun H, Dong C, Xu H, & Wang X. Trisomy 21–induced dysregulation of microglial homeostasis in Alzheimer’s brains is mediated by USP25. Science Advances. 2021; 7(1). doi:10.1126/sciadv.abe1340
Pinto B, Morelli G, Rastogi M, Savardi A, Fumagalli A, Petretto A, Bartolucci M, Varea E, Catelani T, Contestabile A, Perlini LE & Cancedda L. Rescuing over-activated microglia restores cognitive performance in juvenile animals of the Dp(16) mouse model of Down Syndrome. Neuron. 2020; 108(5):887-904.e12. doi:10.1016/j.neuron.2020.09.010
Wilcock DM, Hurban J, Helman AM, Sudduth TL, McCarty KL, Beckett TL, Ferrell JC, Murphy MP, Abner EL, Schmitt FA, Head E. Down syndrome individuals with Alzheimer’s disease have a distinct neuroinflammatory phenotype compared to sporadic Alzheimer’s disease. Neurobiology of Aging. 2015; 36(9):2468-74. doi: 10.1016/j.neurobiolaging.2015.05.016.
Lee, HC, Tan KL, Cheah PS & Ling KH. Potential role of JAK-STAT signaling pathway in the neurogenic-to-gliogenic shift in Down Syndrome brain. Neural Plasticity. 2016:7434191. doi:10.1155/2016/7434191
Lee HC, Tan KL, Cheah PS & Ling KH. JAK-STAT Signaling Pathway and Gliosis in Neuroinflammatory Diseases. In R. Goswami (Ed.), JAK-STAT Signaling in Diseases (pp. 83–101). 2020. Taylor & Francis.
Tan KL, Ling KH, Hewitt CA, Cheah PS, Simpson K, Gordon L, Pritchard MA, Smyth GK, Thomas T & Scott HS. Transcriptional profiling of the postnatal brain of the Ts1Cje mouse model of Down syndrome. Genomics Data. 2014; 2:314–317. doi:10.1016/j.gdata.2014.09.009
Kim YH & Koh JY. The role of NADPH oxidase and neuronal nitric oxide synthase in zinc- induced poly(ADP-ribose) polymerase activation and cell death in cortical culture. Experimental Neurology. 2002; 177(2), 407–418. doi:10.1006/ exnr.2002.7990
Lively S & Schlichter LC. Microglia responses to pro-inflammatory stimuli (LPS, IFNγ+TNFα) and reprogramming by resolving cytokines (IL-4, IL-10). Frontiers in Cellular Neuroscience. 2018; 12:215. doi:10.3389/fncel.2018.00215
Shukkur EA, Shimohata A, Akagi T, Yu W, Yamaguchi M, Murayama M, Chui D, Takeuchi T, Amano K, Subramhanya KH, Hashikawa T, Sago H, Epstein CJ, Takashima A & Yamakawa K. Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Human Molecular Genetics. 2006; 15(18):2752–2762. doi:10.1093/hmg/ddl211
Lee HC, Hamzah H, PY Leong M, Md Yusof H, Habib O, Zainal Abidin S, Amira Seth E, Lim SM, Vidyadaran S, Aris Mohd Moklas M, Atmadini Abdullah M, Nordin N, Hassan Z, Cheah PS & Ling KH. Transient prenatal ruxolitinib treatment suppresses astrogenesis during development and improves learning and memory in adult mice. Scientific Reports. 2021; 11(1), 3847. doi: 10.1038/ s41598-021-83222-z