Database : MEDLINE
Search on : Down and Syndrome [Words]
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[PMID]: 29485402
[Au] Autor:Raveau M; Polygalov D; Boehringer R; Amano K; Yamakawa K; McHugh TJ
[Ad] Address:Laboratory for Neurogenetics, RIKEN, Brain Science Institute, Saitama, Japan.
[Ti] Title:Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice.
[So] Source:Elife;7, 2018 Feb 27.
[Is] ISSN:2050-084X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Down syndrome, the leading genetic cause of intellectual disability, results from an extra-copy of chromosome 21. Mice engineered to model this aneuploidy exhibit Down syndrome-like memory deficits in spatial and contextual tasks. While abnormal neuronal function has been identified in these models, most studies have relied on measures. Here, using recording in Dp(16)1Yey model, we find alterations in the organization of spiking of hippocampal CA1 pyramidal neurons, including deficits in the generation of complex spikes. These changes lead to poorer spatial coding during exploration and less coordinated activity during sharp-wave ripples, events involved in memory consolidation. Further, the density of CA1 inhibitory neurons expressing neuropeptide Y, a population key for the generation of pyramidal cell bursts, were significantly increased in Dp(16)1Yey mice. Our data refine the 'over-suppression' theory of Down syndrome pathophysiology and suggest specific neuronal subtypes involved in hippocampal dysfunction in these model mice.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review

  2 / 42866 MEDLINE  
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[PMID]: 29454635
[Au] Autor:Levenga J; Peterson DJ; Cain P; Hoeffer CA
[Ad] Address:Institute for Behavioral Genetics, University of Colorado, Boulder, United States.
[Ti] Title:Sleep Behavior and EEG Oscillations in Aged Dp(16)1Yey/+ Mice: A Down Syndrome Model.
[So] Source:Neuroscience;376:117-126, 2018 Feb 16.
[Is] ISSN:1873-7544
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Down syndrome (DS) results from the triplication of genes located on human chromosome 21 (Hsa21). Though many cognitive and behavioral impairments are associated with DS, sleep disturbances remain poorly understood despite being a reported phenotype in approximately 60% of individuals diagnosed with DS. In this study, sleep and electroencephalography (EEG) oscillations were recorded from aged (12-14 mos.) Dp(16)1Yey/+ mice (Dp16), a mouse model of DS. We observed disrupted sleep demonstrated by increased activity during the dark phase and increased time awake at the expense of NREM sleep compared to wild-type mice. In addition, we found that Dp16 mice display significant differences in relative EEG power distribution among oscillation frequencies in both sleep and awake states. These results in Dp16 mice are consistent with sleep disturbances found in individuals with DS, and the abnormal EEG oscillations in aged Dp16 mice suggest a potential role for GABAergic activity in these sleep and EEG abnormalities. These sleep and EEG data reflect underlying differences in neuronal activity at the network level and thus are causative agents rather than merely symptoms of DS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  3 / 42866 MEDLINE  
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[PMID]: 29394516
[Au] Autor:Alldred MJ; Chao HM; Lee SH; Beilin J; Powers BE; Petkova E; Strupp BJ; Ginsberg SD
[Ad] Address:Center for Dementia Research, Nathan Kline Institute, Orangeburg, New York.
[Ti] Title:CA1 pyramidal neuron gene expression mosaics in the Ts65Dn murine model of Down syndrome and Alzheimer's disease following maternal choline supplementation.
[So] Source:Hippocampus;, 2018 Feb 02.
[Is] ISSN:1098-1063
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Although there are changes in gene expression and alterations in neuronal density and afferent inputs in the forebrain of trisomic mouse models of Down syndrome (DS) and Alzheimer's disease (AD), there is a lack of systematic assessments of gene expression and encoded proteins within individual vulnerable cell populations, precluding translational investigations at the molecular and cellular level. Further, no effective treatment exists to combat intellectual disability and basal forebrain cholinergic neurodegeneration seen in DS. To further our understanding of gene expression changes before and following cholinergic degeneration in a well-established mouse model of DS/AD, the Ts65Dn mouse, we assessed RNA expression levels from CA1 pyramidal neurons at two adult ages (∼6 months of age and ∼11 months of age) in both Ts65Dn and their normal disomic (2N) littermates. We further examined a therapeutic intervention, maternal choline supplementation (MCS), which has been previously shown to lessen dysfunction in spatial cognition and attention, and have protective effects on the survival of basal forebrain cholinergic neurons in the Ts65Dn mouse model. Results indicate that MCS normalized expression of several genes in key gene ontology categories, including synaptic plasticity, calcium signaling, and AD-associated neurodegeneration related to amyloid-beta peptide (A) clearance. Specifically, normalized expression levels were found for endothelin converting enzyme-2 (Ece2), insulin degrading enzyme (Ide), Dyrk1a, and calcium/calmodulin-dependent protein kinase II (Camk2a), among other relevant genes. Single population expression profiling of vulnerable CA1 pyramidal neurons indicates that MCS is a viable therapeutic for long-term reprogramming of key transcripts involved in neuronal signaling that are dysregulated in the trisomic mouse brain which have translational potential for DS and AD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:Publisher
[do] DOI:10.1002/hipo.22832

  4 / 42866 MEDLINE  
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[PMID]: 29523805
[Au] Autor:Pawlikowski B; Betta ND; Elston T; Williams DA; Olwin BB
[Ad] Address:Department of Molecular, Cellular and Developmental Biology, University of Colorado, 347 UCB, Boulder, CO, 80309, United States.
[Ti] Title:Muscle stem cell dysfunction impairs muscle regeneration in a mouse model of Down syndrome.
[So] Source:Sci Rep;8(1):4309, 2018 Mar 09.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome. Ts65Dn satellite cells accumulate DNA damage and over express Usp16, a histone de-ubiquitinating enzyme that regulates the DNA damage response. Impairment of satellite cell function, which further declines as Ts65Dn mice age, underscores stem cell deficiencies as an important contributor to Down syndrome pathologies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-018-22342-5

  5 / 42866 MEDLINE  
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[PMID]: 29373606
[Au] Autor:Devadas K; Biswas S; Ragupathy V; Lee S; Dayton A; Hewlett I
[Ad] Address:Laboratory of Molecular Virology, Division of Emerging and Transfusion Transmitted Diseases, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, MD, United States of America.
[Ti] Title:Modulation of HIV replication in monocyte derived macrophages (MDM) by steroid hormones.
[So] Source:PLoS One;13(1):e0191916, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Significant sex specific differences in the progression of HIV/AIDS have been reported. Several studies have implicated steroid hormones in regulating host factor expression and modulating HIV transmission and replication. However, the exact mechanism exerted by steroid hormones estrogen and progesterone in the regulation of HIV-1 replication is still unclear. Results from the current study indicated a dose dependent down regulation of HIV-1 replication in monocyte derived macrophages pre-treated with high concentrations of estrogen or progesterone. To elucidate the molecular mechanisms associated with the down regulation of HIV-1 replication by estrogen and progesterone we used PCR arrays to analyze the expression profile of host genes involved in antiviral responses. Several chemokines, cytokines, transcription factors, interferon stimulated genes and genes involved in type-1 interferon signaling were down regulated in cells infected with HIV-1 pre-treated with high concentrations of estrogen or progesterone compared to untreated HIV-1 infected cells or HIV-1 infected cells treated with low concentrations of estrogen or progesterone. The down regulation of CXCL9, CXCL10 and CXCL11 chemokines and IL-1, IL-6 cytokines in response to high concentrations of estrogen and progesterone pre-treatment in HIV-1 infected cells was confirmed at the protein level by quantitating chemokine and cytokine concentrations in the culture supernatant. These results demonstrate that a potent anti-inflammatory response is mediated by pre-treatment with high concentrations of estrogen and progesterone. Thus, our study suggests a strong correlation between the down-modulation of anti-viral and pro-inflammatory responses mediated by estrogen and progesterone pre-treatment and the down regulation of HIV-1 replication. These findings may be relevant to clinical observations of sex specific differences in patient populations and point to the need for further investigation.
[Mh] MeSH terms primary: Estrogens/physiology
HIV/physiology
Macrophages/virology
Progesterone/physiology
Virus Replication
[Mh] MeSH terms secundary: Humans
Polymerase Chain Reaction
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Estrogens); 4G7DS2Q64Y (Progesterone)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180127
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191916

  6 / 42866 MEDLINE  
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[PMID]: 28449648
[Au] Autor:Oxenford K; Daley R; Lewis C; Hill M; Chitty LS
[Ad] Address:Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK.
[Ti] Title:Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study.
[So] Source:BMC Pregnancy Childbirth;17(1):132, 2017 04 27.
[Is] ISSN:1471-2393
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of this study was to develop and evaluate a training package for health professionals to support the introduction of NIPT into clinical practice. METHODS: Training on NIPT was offered to health professionals, primarily midwives, involved in Down syndrome screening and testing in eight hospitals located in England and Scotland as part of a research study evaluating the implementation of NIPT in the UK National Health Service. Training was evaluated using a mixed methods approach that included quantitative questionnaires at three time points and post-training qualitative interviews. The questionnaires measured confidence, self-perceived knowledge and actual knowledge about NIPT for Down syndrome. Interviews explored opinions about the training and experiences of offering NIPT. RESULTS: The training provided to the health professionals was found to positively impact on their confidence in discussing NIPT with women in their clinic, and both their perceived and actual knowledge and understanding of NIPT was improved. Knowledge remained weak in four areas; cell-free fetal DNA levels increase with gestation; turnaround time for NIPT results; cell-free fetal DNA is placental in origin; and NIPT false positive rate. CONCLUSIONS: Training materials, including a lesson plan, PowerPoint presentation and written factsheet on NIPT, have been developed and evaluated for use in educating midwives and supporting the introduction of NIPT. Implementation of training should include a greater focus on the areas where knowledge remained low. Some groups of midwives will need additional training or support to optimise their confidence in discussing NIPT with women.
[Mh] MeSH terms primary: Counseling/education
Down Syndrome/diagnosis
Health Personnel/education
Prenatal Diagnosis/psychology
Teaching
[Mh] MeSH terms secundary: Adult
Aneuploidy
Counseling/methods
Female
Humans
Male
Middle Aged
Pregnancy
Prenatal Diagnosis/methods
Qualitative Research
Surveys and Questionnaires
[Pt] Publication type:EVALUATION STUDIES; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.1186/s12884-017-1315-7

  7 / 42866 MEDLINE  
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[PMID]: 29522281
[Au] Autor:Tamplen M; Fowler T; Markey J; Knott PD; Suva LJ; Alliston T
[Ad] Address:Department of Otolaryngology - Head and Neck Surgery, University of California, San Francisco, California.
[Ti] Title:Treatment with anti-Sclerostin antibody to stimulate mandibular bone formation.
[So] Source:Head Neck;, 2018 Mar 09.
[Is] ISSN:1097-0347
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Anti-Sclerostin antibody (Scl-Ab) is a promising new bone anabolic therapy. Although anti-Scl-Ab stimulates bone formation and repair in the appendicular and axial skeleton, its efficacy in the craniofacial skeleton is still poorly understood. METHODS: Using an established model of Down syndrome-dependent bone deficiency, 10 Ts65Dn mice and 10 wild-type mice were treated weekly via i.v. tail vein injection with vehicle or anti-Sclerostin for 3 weeks and euthanized 1 week after. RESULTS: Wild-type mice treated with the anti-Scl-Ab had increased mandibular bone, trabecular thickness, and alveolar height compared with controls. Anti-Scl-Ab increased Ts65Dn mandibular bone parameters such that they were statistically indistinguishable from those in vehicle-treated wild-type mandibles. CONCLUSION: Treatment with anti-Scl-Ab significantly increased mandibular bone mass and alveolar height in wild type mice and normalized mandibular bone mass and alveolar height in Ts65Dn mice. The anti-Scl-Ab therapy represents a novel method for increasing mandibular bone formation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1002/hed.25128

  8 / 42866 MEDLINE  
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[PMID]: 29522155
[Au] Autor:Burger LL; Vanacker C; Phumsatitpong C; Wagenmaker ER; Wang L; Olson DP; Moenter SM
[Ad] Address:Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI.
[Ti] Title:Identification of genes enriched in GnRH neurons by translating ribosome affinity purification and RNASeq in mice.
[So] Source:Endocrinology;, 2018 Mar 07.
[Is] ISSN:1945-7170
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:GnRH neurons are a nexus of fertility regulation. We utilized translating ribosome affinity purification coupled with RNA sequencing to examine mRNAs of GnRH neurons in adult intact and gonadectomized (GDX) male and female mice. GnRH neuron ribosomes were tagged with green fluorescent protein (GFP) and GFP-labeled polysomes isolated by immunoprecipitation, producing one RNA fraction enhanced for GnRH neuron transcripts and one RNA fraction depleted. cDNA libraries were created from each fraction and 50-base, paired-end sequencing done and differential expression (enhanced fraction/depleted fraction) determined with a threshold of >1.5 or <0.66 fold (false discovery rate p≤0.05). A core of ∼840 genes were differentially expressed in GnRH neurons in all treatments, including enrichment for Gnrh1 (∼40 fold), and genes critical for GnRH neuron and/or gonadotrope development. In contrast, non-neuronal transcripts were not enriched or were de-enriched. Several epithelial markers were also enriched, consistent with the olfactory epithelial origins of GnRH neurons. Interestingly, many synaptic transmission pathways were de-enriched, in accordance with relatively low innervation of GnRH neurons. The most striking difference between intact and GDX mice of both sexes was a marked down regulation of genes associated with oxidative phosphorylation and upregulation of glucose transporters in GnRH neurons from GDX mice. This may suggest that GnRH neurons switch to an alternate fuel to increase ATP production in the absence of negative feedback when GnRH release is elevated. Knowledge of the GnRH neuron translatome and its regulation can guide functional studies and can be extended to disease states, such as polycystic ovary syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1210/en.2018-00001

  9 / 42866 MEDLINE  
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[PMID]: 29522129
[Au] Autor:Sheng L; Leshchyns'ka I; Sytnyk V
[Ad] Address:School of Biotechnology and Biomolecular Sciences, The University of New South Wales, Sydney, New South Wales 2052, Australia.
[Ti] Title:Neural Cell Adhesion Molecule 2 (NCAM2)-Induced c-Src-Dependent Propagation of Submembrane Ca2+ Spikes Along Dendrites Inhibits Synapse Maturation.
[So] Source:Cereb Cortex;, 2018 Mar 07.
[Is] ISSN:1460-2199
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The neural cell adhesion molecule 2 (NCAM2) is encoded by a gene on chromosome 21 in humans. NCAM2 accumulates in synapses, but its role in regulation of synapse formation remains poorly understood. We demonstrate that an increase in NCAM2 levels results in increased instability of dendritic protrusions and reduced conversion of protrusions to dendritic spines in mouse cortical neurons. NCAM2 overexpression induces an increase in the frequency of submembrane Ca2+ spikes localized in individual dendritic protrusions and promotes propagation of submembrane Ca2+ spikes over segments of dendrites or the whole dendritic tree. NCAM2-dependent submembrane Ca2+ spikes are L-type voltage-gated Ca2+ channel-dependent, and their propagation but not initiation depends on the c-Src protein tyrosine kinase. Inhibition of initiation or propagation of NCAM2-dependent submembrane Ca2+ spikes reduces the NCAM2-dependent instability of dendritic protrusions. Synaptic boutons formed on dendrites of neurons with elevated NCAM2 expression are enriched in the protein marker of immature synapses GAP43, and the number of boutons with mature activity-dependent synaptic vesicle recycling is reduced. Our results indicate that synapse maturation is inhibited in NCAM2-overexpressing neurons and suggest that changes in NCAM2 levels and altered submembrane Ca2+ dynamics can cause defects in synapse maturation in Down syndrome and other brain disorders associated with abnormal NCAM2 expression.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1093/cercor/bhy041

  10 / 42866 MEDLINE  
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[PMID]: 29521228
[Au] Autor:Ramirez AR; Acosta OL; Maya MB; El-Hafidi M
[Ad] Address:Depto. de Biomedicina Cardiovascular, Instituto Nacional de Cardiologia Ignacio Chavez, Juan Badiano No. 1, Colonia Seccion XVI, Tlalpan 14080, Ciudad de Mexico. Mexico.
[Ti] Title:Uncoupling protein overexpression in metabolic disease and the risk of uncontrolled cell proliferation and tumorigenesis.
[So] Source:Curr Mol Med;, 2018 Mar 07.
[Is] ISSN:1875-5666
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:In metabolic diseases such as obesity, metabolic syndrome and type II diabetes, the over-expression of uncoupling proteins (UCPs) in a response to increased reactive oxygen species (ROS) generation by mitochondrial respiratory complexes, and to the excess of free fatty acid (FFA) supply from adipose tissue, may protect cells from oxidative stress, lipotoxicity and in turn from death. UCPs by reducing superoxide anion and H2O2 generation trigger several signals to cell for their adaptation to the lipotoxic microenvironment. In mitochondria, a decrease of cytochrome c (cyt c) and proapoptotic protein release from mitochondria promotes cell survival and proliferation. The altered lipid metabolism also affects cardiolipin susceptibility to the peroxidation, a process involved in the dissociation of cyt c from mitochondrial inner membrane and its release, a key step of apoptosis. Therefore, UCPs by attenuating ROS generation and lipotoxicity may down-regulate programmed cell death, a well-known physiological process controlling cell proliferation contributing to uncontrolled cell proliferation and tumorigenesis. In addition, tumor cells over-expressed UCPs, by inhibiting ROS generation acquire resistance to death during pharmacological treatment with oxidative stress drug inducers. Therefore, the aim of this review is to discuss recent findings regarding the role that UCPs play in cell survival by protecting against ROS generation and maintaining bioenergetic metabolism homeostasis to promote cell proliferation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.2174/1566524018666180308110822


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