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https://www.readbyqxmd.com/read/28796949/mecp2-and-ctcf-enhancing-the-cross-talk-of-silencers
#1
Juan Ausio, Philippe T Georgel
This paper provides a brief introductory review of the most recent advances in our knowledge about structural and functional aspects of two transcriptional regulators: the methyl-CpG protein binding 2 (MeCP2), a protein whose mutated forms are involved in Rett syndrome and CCCTC-binding factor (CTCF), a constitutive transcriptional insulator. This is followed by a description of the post-translational modifications (PTMs) affecting these two proteins and an analysis of their known interacting partners. A special emphasis is placed on the recent studies connecting these two proteins focusing on the still poorly understood potential structural and functional interactions between the two of them on the chromatin substrate...
August 10, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28794905/further-clinical-delineation-of-the-mef2c-haploinsufficiency-syndrome-report-on-new-cases-and-literature-review-of-severe-neurodevelopmental-disorders-presenting-with-seizures-absent-speech-and-involuntary-movements
#2
REVIEW
Irena Vrečar, Josie Innes, Elizabeth A Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton-Smith, Sofia Douzgou
Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28781028/hypoplastic-hippocampus-in-atypical-rett-syndrome-with-a-novel-foxg1-mutation
#3
Kotoha Harada, Mayumi Yamamoto, Yukihiko Konishi, Kaori Koyano, Satoru Takahashi, Masanori Namba, Takashi Kusaka
The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. The congenital variant of RTT shows a hypoplastic corpus callosum, delayed myelination, and frontal and temporal atrophy. Although no report has described a hippocampal abnormality in humans, the current study suggests that FOXG1 also regulates neurogenesis in the postnatal hippocampus. In the present case, severe developmental delay was observed in a patient with a congenital variant of RTT from about 4months, in conjunction with acquired microcephaly, hypotonia, limited motor function, absent purposeful hand use, and repetitive jerky movements of the upper limbs...
August 3, 2017: Brain & Development
https://www.readbyqxmd.com/read/28766954/dysphagia-in-rett-syndrome-a-descriptive-study
#4
Chiara Mezzedimi, Walter Livi, Claudio De Felice, Serena Cocca
OBJECTIVES: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. METHODS: The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS...
August 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28764992/impact-on-gaba-systems-in-monogenetic-developmental-cns-disorders-clues-to-symptomatic-treatment
#5
REVIEW
Dietmar Benke, Hanns Möhler
Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including autism-like behavior, NONO-mutation-induced intellectual disability, Succinic semialdehyde dehydrogenase deficiency and Congenital nystagmus due to FRMD7 mutations...
July 29, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28760966/neuronal-cytoskeletal-gene-dysregulation-and-mechanical-hypersensitivity-in-a-rat-model-of-rett-syndrome
#6
Aritra Bhattacherjee, Ying Mu, Michelle K Winter, Jennifer R Knapp, Linda S Eggimann, Sumedha S Gunewardena, Kazuto Kobayashi, Shigeki Kato, Dora Krizsan-Agbas, Peter G Smith
Children with Rett syndrome show abnormal cutaneous sensitivity. The precise nature of sensory abnormalities and underlying molecular mechanisms remain largely unknown. Rats with methyl-CpG binding protein 2 (MeCP2) mutation, characteristic of Rett syndrome, show hypersensitivity to pressure and cold, but hyposensitivity to heat. They also show cutaneous hyperinnervation by nonpeptidergic sensory axons, which include subpopulations encoding noxious mechanical and cold stimuli, whereas peptidergic thermosensory innervation is reduced...
July 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28754522/finding-patients-using-similarity-measures-in-a-rare-diseases-oriented-clinical-data-warehouse-dr-warehouse-and-the-needle-in-the-needle-stack
#7
Garcelon Nicolas, Neuraz Antoine, Benoit Vincent, Salomon Rémi, Kracker Sven, Suarez Felipe, Bahi-Buisson Nadia, Hadj-Rabia Smail, Fischer Alain, Munnich Arnold, Burgun Anita
OBJECTIVE: In the context of rare diseases, it may be helpful to detect patients with similar medical histories, diagnoses and outcomes from a large number of cases with automated methods. To reduce the time to find new cases, we developed a method to find similar patients given an index case leveraging data from the electronic health records. MATERIALS AND METHODS: We used the clinical data warehouse of a children academic hospital in Paris, France (Necker-Enfants Malades), containing about 400,000 patients...
July 25, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28751857/the-bdnf-val-66-met-polymorphism-affects-neuronal-morphology-and-synaptic-transmission-in-cultured-hippocampal-neurons-from-rett-syndrome-mice
#8
Xin Xu, Jordi Garcia, Rachel Ewalt, Shelly Nason, Lucas Pozzo-Miller
Brain-derived neurotrophic factor (Bdnf) has been implicated in several neurological disorders including Rett syndrome (RTT), an X-linked neurodevelopmental disorder caused by loss-of-function mutations in the transcriptional modulator methyl-CpG-binding protein 2 (MECP2). The human BDNF gene has a single nucleotide polymorphism (SNP)-a methionine (met) substitution for valine (val) at codon 66-that affects BDNF's trafficking and activity-dependent release and results in cognitive dysfunction. Humans that are carriers of the met-BDNF allele have subclinical memory deficits and reduced hippocampal volume and activation...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28734458/rett-like-severe-encephalopathy-caused-by-a-de%C3%A2-novo-grin2b-mutation-is-attenuated-by-d-serine-dietary-supplement
#9
David Soto, Mireia Olivella, Cristina Grau, Judith Armstrong, Clara Alcon, Xavier Gasull, Macarena Gómez de Salazar, Esther Gratacòs-Batlle, David Ramos-Vicente, Víctor Fernández-Dueñas, Francisco Ciruela, Àlex Bayés, Carlos Sindreu, Anna López-Sala, Àngels García-Cazorla, Xavier Altafaj
BACKGROUND: N-Methyl-D-aspartate receptors (NMDARs) play pivotal roles in synaptic development, plasticity, neural survival, and cognition. Despite recent reports describing the genetic association between de novo mutations of NMDAR subunits and severe psychiatric diseases, little is known about their pathogenic mechanisms and potential therapeutic interventions. Here we report a case study of a 4-year-old Rett-like patient with severe encephalopathy carrying a missense de novo mutation in GRIN2B(p...
June 16, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28709814/the-therapeutic-implication-of-a-novel-scn2a-mutation-associated-early-onset-epileptic-encephalopathy-with-rett-like-features
#10
Jao-Shwann Liang, Li-Ju Lin, Ming-Tao Yang, Jinn-Shyan Wang, Jyh-Feng Lu
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c...
July 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28688852/cdkl5-controls-postsynaptic-localization-of-glun2b-containing-nmda-receptors-in-the-hippocampus-and-regulates-seizure-susceptibility
#11
Kosuke Okuda, Shizuka Kobayashi, Masahiro Fukaya, Aya Watanabe, Takuto Murakami, Mai Hagiwara, Tempei Sato, Hiroe Ueno, Narumi Ogonuki, Sayaka Komano-Inoue, Hiroyuki Manabe, Masahiro Yamaguchi, Atsuo Ogura, Hiroshi Asahara, Hiroyuki Sakagami, Masashi Mizuguchi, Toshiya Manabe, Teruyuki Tanaka
Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe neurodevelopmental disorders accompanied by intractable epilepsies, i.e. West syndrome or atypical Rett syndrome. Here we report generation of the Cdkl5 knockout mouse and show that CDKL5 controls postsynaptic localization of GluN2B-containing N-methyl-d-aspartate (NMDA) receptors in the hippocampus and regulates seizure susceptibility. Cdkl5 -/Y mice showed normal sensitivity to kainic acid; however, they displayed significant hyperexcitability to NMDA...
July 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28687309/reduced-axonal-diameter-of-peripheral-nerve-fibers-in-a-mouse-model-of-rett-syndrome
#12
Noha G Bahey, Kamal K E Gadalla, Rhona McGonigal, Mark E S Bailey, Julia M Edgar, Stuart R Cobb
Rett syndrome (RTT) is a neurological disorder characterized by motor and cognitive impairment, autonomic dysfunction and a loss of purposeful hand skills. In the majority of cases, typical RTT is caused by de novo mutations in the X-linked gene, MECP2. Alterations in the structure and function of neurons within the central nervous system of RTT patients and Mecp2-null mouse models are well established. In contrast, few studies have investigated the effects of MeCP2-deficiency on peripheral nerves. In this study, we conducted detailed morphometric as well as functional analysis of the sciatic nerves of symptomatic adult female Mecp2(+/-) mice...
July 4, 2017: Neuroscience
https://www.readbyqxmd.com/read/28686290/mining-for-mitochondrial-mechanisms-linking-known-syndromes-to-mitochondrial-function
#13
REVIEW
Daan M Panneman, Jan A Smeitink, Richard J Rodenburg
Mitochondrial disorders (MDs) are caused by defects in one or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement of mitochondrial pathways in some of these non-mitochondrial syndromes. Here, we give an overview of around 25 non-mitochondrial syndromes, diagnosed in patients who were initially suspected to have a MD on the basis of clinical and biochemical parameters...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28679669/a-small-molecule-trkb-ligand-restores-hippocampal-synaptic-plasticity-and-object-location-memory-in-rett-syndrome-mice
#14
Wei Li, Alba Bellot-Saez, Mary L Phillips, Tao Yang, Frank M Longo, Lucas Pozzo-Miller
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein-2 (MECP2), a transcriptional regulator of many genes, including brain-derived neurotrophic factor (BDNF). BDNF levels are reduced in RTT autopsy brains and in multiple brain areas of Mecp2-deficient mice. Furthermore, experimental interventions that increase BDNF levels improve RTT-like phenotypes in Mecp2 mutant mice. Here, we characterized the actions of a small-molecule ligand of the BDNF receptor TrkB in hippocampal function in Mecp2 mutant mice...
July 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28674485/the-pathophysiological-role-of-microglia-in-dynamic-surveillance-phagocytosis-and-structural-remodeling-of-the-developing-cns
#15
REVIEW
Cataldo Arcuri, Carmen Mecca, Roberta Bianchi, Ileana Giambanco, Rosario Donato
In vertebrates, during an early wave of hematopoiesis in the yolk sac between embryonic day E7.0 and E9.0, cells of mesodermal leaflet addressed to macrophage lineage enter in developing central nervous system (CNS) and originate the developing native microglial cells. Depending on the species, microglial cells represent 5-20% of glial cells resident in adult brain. Here, we briefly discuss some canonical functions of the microglia, i.e., cytokine secretion and functional transition from M1 to M2 phenotype...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28671722/restoring-eeaquilibrium-rebalancing-excitation-and-inhibition-in-rett-mouse-model-neurons-with-early-endosome-antigen-1
#16
Kerry R Delaney
No abstract text is available yet for this article.
July 3, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28670438/neuroanatomy-in-mouse-models-of-rett-syndrome-is-related-to-the-severity-of-mecp2-mutation-and-behavioral-phenotypes
#17
Rylan Allemang-Grand, Jacob Ellegood, Leigh Spencer Noakes, Julie Ruston, Monica Justice, Brian J Nieman, Jason P Lerch
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. The majority of RTT cases are caused by de novo mutations in methyl-CpG-binding protein 2 (MECP2), and several mouse models have been created to further understand the disorder. In the current literature, many studies have focused their analyses on the behavioral abnormalities and cellular and molecular impairments that arise from Mecp2 mutations. However, limited efforts have been placed on understanding how Mecp2 mutations disrupt the neuroanatomy and networks of the brain...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28668215/-social-cognition-in-children-with-neurogenetic-syndromes-a-literature-review
#18
A Morel, C Demily
Social cognitive impairments may largely contribute to reduced social skills and adaptive problems in individuals with microdeletion syndromes associated with behavioral and psychiatric phenotypes. Understanding the role of social information processing deficits in the emergence of psychotic disorders is a crucial challenge in the management of these patients. Each neurogenetic disorder is characterized by a specific social cognition phenotype. Clarifying the social ability profile of each population may help adjust patient care according to their key strengths and weaknesses...
June 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28665546/astroglial-vesicular-network-evolutionary-trends-physiology-and-pathophysiology
#19
REVIEW
R Zorec, V Parpura, A Verkhratsky
Intracellular organelles, including secretory vesicles, emerged when eukaryotic cells evolved some 3 billion years ago. The primordial organelles that evolved in Archaea were similar to endolysosomes, which developed, arguably, for specific metabolic tasks, including uptake, metabolic processing, storage and disposal of molecules. In comparison with prokaryotes, cell volume of eukaryotes increased by several orders of magnitude and vesicle traffic emerged to allow for communication between distant intracellular locations...
June 30, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28639189/enhancing-neuronogenesis-and-counteracting-neuropathogenic-gene-haploinsufficiencies-by-rna-gene-activation
#20
Antonello Mallamaci
Small activating RNAs (saRNAs), targeting endogenous genes and stimulating their transcription, are a promising tool for implementing a variety of neurotherapeutic strategies. Among these there is the stimulation of select histogenetic subroutines for purposes of cell-based brain repair, as well as the therapeutic treatment of gene expression deficits underlying severe neurological disorders.We employed RNA activation (RNAa) to transactivate the Emx2 transcription factor gene in embryonic cortico-cerebral precursor cells...
2017: Advances in Experimental Medicine and Biology
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