4 recherche sur le mot-clé 'synapses'

Cortical Synaptogenesis in the Human Brain in Conditions of Prenatal Alcoholization / T.V. SHUSHPANOVA in Autism - Open Access, 6-2 ([01/03/2016])  

Public ISBD [article]  inAutism - Open Access > 6-2 [01/03/2016] . - 6 p. Titre : Cortical Synaptogenesis in the Human Brain in Conditions of Prenatal Alcoholization Type de document : texte imprimé Auteurs : T.V. SHUSHPANOVA, Auteur ; A.V. SOLONSKII, Auteur ; N.A. BOKHAN, Auteur Article en page(s) : 6 p. Langues : Anglais (eng) Mots-clés : Alcoholism  Prenatal pathology  Brain  Embryos  Fetuses  Ultrastructure  Synapses Index. décimale : PER Périodiques Résumé : Objective: Shaping synaptic contact is one of the leading processes during which largely determine the future integrative brain capabilities. Prenatal exposure to ethanol may have an impact on synaptogenesis in the brain of the embryo and foetus. The purpose of this study - identify the features of synaptogenesis in the brain of embryos and fetuses in conditions of prenatal alcoholization. Materials and Methods: 33 embryos and fetuses were obtained from female alcoholic patients. Alcoholic patients were aged 26–39 years and the duration of illness was 3–13 years. In all cases, grade II alcoholism was diagnosed (ICD - 10 F10.201, F10.202). The control group consisted of embryos and fetuses from healthy women numbering 30 people with no history of neurological or mental illnesses. The method of electron microscopy and morphometry have been used to study peculiarities in formation of the structure of human embryo and fetus brain synapses at early stages (7 to 12 weeks) of development at mother alcoholization. Results: Electron microscopy of material obtained from alcoholic women has shown slowing - down of formation of synaptic structure. Morphometry has revealed that under the influence of prenatal alcoholization the formation of components of synaptic brain contacts slows down at studying stages of development: the area of presynaptic terminals and their perimeter decreases, and the perimeter of postsynaptic densities decreases as well. Conclusions: The data showed a significant effect of prenatal exposure to ethanol on the development of synaptic structures - reduction of morphometric parameters, slowing the formation of synaptic contacts on the background of reduction of their formation in the brain of the fetus in the early stages of development compared with the norm, which is reflected on during synaptogenesis in the developing brain and can lie the basis of severe disorders in the unborn child. En ligne : https://dx.doi.org/10.4172/2165-7890.1000173 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 [article] Cortical Synaptogenesis in the Human Brain in Conditions of Prenatal Alcoholization [texte imprimé] / T.V. SHUSHPANOVA, Auteur ; A.V. SOLONSKII, Auteur ; N.A. BOKHAN, Auteur . - 6 p. Langues : Anglais (eng) in Autism - Open Access > 6-2 [01/03/2016] . - 6 p. Mots-clés : Alcoholism  Prenatal pathology  Brain  Embryos  Fetuses  Ultrastructure  Synapses Index. décimale : PER Périodiques Résumé : Objective: Shaping synaptic contact is one of the leading processes during which largely determine the future integrative brain capabilities. Prenatal exposure to ethanol may have an impact on synaptogenesis in the brain of the embryo and foetus. The purpose of this study - identify the features of synaptogenesis in the brain of embryos and fetuses in conditions of prenatal alcoholization. Materials and Methods: 33 embryos and fetuses were obtained from female alcoholic patients. Alcoholic patients were aged 26–39 years and the duration of illness was 3–13 years. In all cases, grade II alcoholism was diagnosed (ICD - 10 F10.201, F10.202). The control group consisted of embryos and fetuses from healthy women numbering 30 people with no history of neurological or mental illnesses. The method of electron microscopy and morphometry have been used to study peculiarities in formation of the structure of human embryo and fetus brain synapses at early stages (7 to 12 weeks) of development at mother alcoholization. Results: Electron microscopy of material obtained from alcoholic women has shown slowing - down of formation of synaptic structure. Morphometry has revealed that under the influence of prenatal alcoholization the formation of components of synaptic brain contacts slows down at studying stages of development: the area of presynaptic terminals and their perimeter decreases, and the perimeter of postsynaptic densities decreases as well. Conclusions: The data showed a significant effect of prenatal exposure to ethanol on the development of synaptic structures - reduction of morphometric parameters, slowing the formation of synaptic contacts on the background of reduction of their formation in the brain of the fetus in the early stages of development compared with the norm, which is reflected on during synaptogenesis in the developing brain and can lie the basis of severe disorders in the unborn child. En ligne : https://dx.doi.org/10.4172/2165-7890.1000173 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410

GABAergic signaling in the developing cerebellum / Chitoshi TAKAYAMA

Public ISBD contenu dans The GABA in Autism and Related Disorders / Dirk M. DHOSSCHE Titre : GABAergic signaling in the developing cerebellum Type de document : texte imprimé Auteurs : Chitoshi TAKAYAMA, Auteur Année de publication : 2005 Importance : p.63-94 Langues : Anglais (eng) Mots-clés : Acide ?-aminobutyrique  Synapses Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=668 contenu dans The GABA in Autism and Related Disorders / Dirk M. DHOSSCHE GABAergic signaling in the developing cerebellum [texte imprimé] / Chitoshi TAKAYAMA, Auteur . - 2005 . - p.63-94. Langues : Anglais (eng) Mots-clés : Acide ?-aminobutyrique  Synapses Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=668

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Genetic Suppression of mTOR Rescues Synaptic and Social Behavioral Abnormalities in a Mouse Model of Pten Haploinsufficiency / Wen-Chin HUANG in Autism Research, 12-10 (October 2019)  

Public ISBD [article]  inAutism Research > 12-10 (October 2019) . - p.1463-1471 Titre : Genetic Suppression of mTOR Rescues Synaptic and Social Behavioral Abnormalities in a Mouse Model of Pten Haploinsufficiency Type de document : texte imprimé Auteurs : Wen-Chin HUANG, Auteur ; Yuanshu CHEN, Auteur ; Damon T. PAGE, Auteur Année de publication : 2019 Article en page(s) : p.1463-1471 Langues : Anglais (eng) Mots-clés : Pten  macrocephaly  network activity  social behavior  synapses Index. décimale : PER Périodiques Résumé : Heterozygous mutations in PTEN, which encodes a negative regulator of the mTOR and beta-catenin signaling pathways, cause macrocephaly/autism syndrome. However, the neurobiological substrates of the core symptoms of this syndrome are poorly understood. Here, we investigate the relationship between cerebral cortical overgrowth and social behavior deficits in conditional Pten heterozygous female mice (Pten cHet) using Emx1-Cre, which is expressed in cortical pyramidal neurons and a subset of glia. We found that conditional heterozygous mutation of Ctnnb1 (encoding beta-catenin) suppresses Pten cHet cortical overgrowth, but not social behavioral deficits, whereas conditional heterozygous mutation of Mtor suppresses social behavioral deficits, but not cortical overgrowth. Neuronal activity in response to social cues and excitatory synapse markers are elevated in the medial prefrontal cortex (mPFC) of Pten cHet mice, and heterozygous mutation in Mtor, but not Ctnnb1, rescues these phenotypes. These findings indicate that macroscale cerebral cortical overgrowth and social behavioral phenotypes caused by Pten haploinsufficiency can be dissociated based on responsiveness to genetic suppression of Ctnnb1 or Mtor. Furthermore, neuronal connectivity appears to be one potential substrate for mTOR-mediated suppression of social behavioral deficits in Pten haploinsufficient mice. Autism Res 2019, 12: 1463-1471. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: A subgroup of individuals with autism display overgrowth of the head and the brain during development. Using a mouse model of an autism risk gene, Pten, that displays both brain overgrowth and social behavioral deficits, we show here that that these two symptoms can be dissociated. Reversal of social behavioral deficits in this model is associated with rescue of abnormal synaptic markers and neuronal activity. En ligne : http://dx.doi.org/10.1002/aur.2186 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Genetic Suppression of mTOR Rescues Synaptic and Social Behavioral Abnormalities in a Mouse Model of Pten Haploinsufficiency [texte imprimé] / Wen-Chin HUANG, Auteur ; Yuanshu CHEN, Auteur ; Damon T. PAGE, Auteur . - 2019 . - p.1463-1471. Langues : Anglais (eng) in Autism Research > 12-10 (October 2019) . - p.1463-1471 Mots-clés : Pten  macrocephaly  network activity  social behavior  synapses Index. décimale : PER Périodiques Résumé : Heterozygous mutations in PTEN, which encodes a negative regulator of the mTOR and beta-catenin signaling pathways, cause macrocephaly/autism syndrome. However, the neurobiological substrates of the core symptoms of this syndrome are poorly understood. Here, we investigate the relationship between cerebral cortical overgrowth and social behavior deficits in conditional Pten heterozygous female mice (Pten cHet) using Emx1-Cre, which is expressed in cortical pyramidal neurons and a subset of glia. We found that conditional heterozygous mutation of Ctnnb1 (encoding beta-catenin) suppresses Pten cHet cortical overgrowth, but not social behavioral deficits, whereas conditional heterozygous mutation of Mtor suppresses social behavioral deficits, but not cortical overgrowth. Neuronal activity in response to social cues and excitatory synapse markers are elevated in the medial prefrontal cortex (mPFC) of Pten cHet mice, and heterozygous mutation in Mtor, but not Ctnnb1, rescues these phenotypes. These findings indicate that macroscale cerebral cortical overgrowth and social behavioral phenotypes caused by Pten haploinsufficiency can be dissociated based on responsiveness to genetic suppression of Ctnnb1 or Mtor. Furthermore, neuronal connectivity appears to be one potential substrate for mTOR-mediated suppression of social behavioral deficits in Pten haploinsufficient mice. Autism Res 2019, 12: 1463-1471. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: A subgroup of individuals with autism display overgrowth of the head and the brain during development. Using a mouse model of an autism risk gene, Pten, that displays both brain overgrowth and social behavioral deficits, we show here that that these two symptoms can be dissociated. Reversal of social behavioral deficits in this model is associated with rescue of abnormal synaptic markers and neuronal activity. En ligne : http://dx.doi.org/10.1002/aur.2186 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder / Dan XIA in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder Type de document : texte imprimé Auteurs : Dan XIA, Auteur ; Yuanyuan XU, Auteur ; Zhanwen HE, Auteur ; Rui CHEN, Auteur ; Xiaoqin XIAO, Auteur ; Xiaojuan LI, Auteur ; Kewen DENG, Auteur ; Shuyun DENG, Auteur ; Lina ZHANG, Auteur ; Jieming ZHANG, Auteur ; Xiaofang PENG, Auteur ; Zhe MENG, Auteur ; Ruohao WU, Auteur ; Dilong WANG, Auteur ; Zulin LIU, Auteur ; Hui CHEN, Auteur ; Lu LI, Auteur ; Liyang LIANG, Auteur Langues : Anglais (eng) Mots-clés : Child  Humans  Male  Autism Spectrum Disorder/genetics  Intellectual Disability/genetics  Mitochondria/genetics/metabolism  Synapses  ANKRD17 haploinsufficiency  Autism Spectrum Disorder (ASD)  Intellectual Disability (ID)  Mitochondrial inhibition  Synaptic protein abnormalities  reviewed and approved by the Ethics Committee of Sun Yat-sen Memorial Hospital of  Sun Yat-sen University (Ethical code: SYSEC-KY-KS-2023–153 and BAP20230154).  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : ANKRD17 has recently been implicated in intellectual disability (ID) and autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. Using trio whole-exome sequencing (Trio-WES) and chromosomal microarray analysis (CMA), we identified two unrelated cases with novel de novo heterozygous ANKRD17 variants. Case 1 describes a fetus with multiple congenital anomalies, where genetic analysis revealed a microdeletion at 4q13.3 truncating the ANKRD17 gene. Case 2 involves a 12-year-old male presenting with mild ID and progressive social impairments, associated with a NM_032217.5: c.1252 C > T (p.Arg418*) variation in ANKRD17. Our study highlighted in mouse models an association between Ankrd17 haploinsufficiency and deficits in social behavior, spatial learning and memory, as well as elevated anxiety. Furthermore, our studies suggest dysregulation of synaptic proteins and mitochondrial function, along with impaired neural circuits following Ankrd17 knockdown. These results expand the genetic and phenotypic spectrum of ANKRD17-related disorders, underscore the critical role of mitochondrial dysfunction in the pathophysiology of ANKRD17-related ID and ASD. En ligne : https://dx.doi.org/10.1186/s11689-025-09619-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder [texte imprimé] / Dan XIA, Auteur ; Yuanyuan XU, Auteur ; Zhanwen HE, Auteur ; Rui CHEN, Auteur ; Xiaoqin XIAO, Auteur ; Xiaojuan LI, Auteur ; Kewen DENG, Auteur ; Shuyun DENG, Auteur ; Lina ZHANG, Auteur ; Jieming ZHANG, Auteur ; Xiaofang PENG, Auteur ; Zhe MENG, Auteur ; Ruohao WU, Auteur ; Dilong WANG, Auteur ; Zulin LIU, Auteur ; Hui CHEN, Auteur ; Lu LI, Auteur ; Liyang LIANG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Child  Humans  Male  Autism Spectrum Disorder/genetics  Intellectual Disability/genetics  Mitochondria/genetics/metabolism  Synapses  ANKRD17 haploinsufficiency  Autism Spectrum Disorder (ASD)  Intellectual Disability (ID)  Mitochondrial inhibition  Synaptic protein abnormalities  reviewed and approved by the Ethics Committee of Sun Yat-sen Memorial Hospital of  Sun Yat-sen University (Ethical code: SYSEC-KY-KS-2023–153 and BAP20230154).  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : ANKRD17 has recently been implicated in intellectual disability (ID) and autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. Using trio whole-exome sequencing (Trio-WES) and chromosomal microarray analysis (CMA), we identified two unrelated cases with novel de novo heterozygous ANKRD17 variants. Case 1 describes a fetus with multiple congenital anomalies, where genetic analysis revealed a microdeletion at 4q13.3 truncating the ANKRD17 gene. Case 2 involves a 12-year-old male presenting with mild ID and progressive social impairments, associated with a NM_032217.5: c.1252 C > T (p.Arg418*) variation in ANKRD17. Our study highlighted in mouse models an association between Ankrd17 haploinsufficiency and deficits in social behavior, spatial learning and memory, as well as elevated anxiety. Furthermore, our studies suggest dysregulation of synaptic proteins and mitochondrial function, along with impaired neural circuits following Ankrd17 knockdown. These results expand the genetic and phenotypic spectrum of ANKRD17-related disorders, underscore the critical role of mitochondrial dysfunction in the pathophysiology of ANKRD17-related ID and ASD. En ligne : https://dx.doi.org/10.1186/s11689-025-09619-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576