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https://www.readbyqxmd.com/read/28098153/mecp2-regulates-cortical-plasticity-underlying-a-learned-behaviour-in-adult-female-mice
#1
Keerthi Krishnan, Billy Y B Lau, Gabrielle Ewall, Z Josh Huang, Stephen D Shea
Neurodevelopmental disorders are marked by inappropriate synaptic connectivity early in life, but how disruption of experience-dependent plasticity contributes to cognitive and behavioural decline in adulthood is unclear. Here we show that pup gathering behaviour and associated auditory cortical plasticity are impaired in female Mecp2(het) mice, a model of Rett syndrome. In response to learned maternal experience, Mecp2(het) females exhibited transient changes to cortical inhibitory networks typically associated with limited plasticity...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28093677/communication-intervention-for-young-children-with-severe-neurodevelopmental-disabilities-via-telehealth
#2
Jessica Simacek, Adele F Dimian, Jennifer J McComas
Young children with neurodevelopmental disorders such as autism spectrum disorders (ASD) and Rett syndrome often experience severe communication impairments. This study examined the efficacy of parent-implemented communication assessment and intervention with remote coaching via telehealth on the acquisition of early communication skills of three young children with ASD (2) and Rett syndrome (1). Efficacy of the intervention was evaluated using single-case experimental designs. First, functional assessment was used to identify idiosyncratic/potentially communicative responses and contexts for each child...
January 16, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28093257/selective-preservation-of-cholinergic-mecp2-rescues-specific-rett-syndrome-like-phenotypes-in-mecp2-stop-mice
#3
Huanhuan Zhou, Wei Wu, Ying Zhang, Haiyang He, Zhefeng Yuan, Zhiwei Zhu, Zhengyan Zhao
RTT is a neurodevelopmental disorder characterized by growth regression, motor dysfunction, stereotypic hand movements, and autism features. Typical Rett syndrome (RTT) is predominantly caused by mutations in X-linked MeCP2 gene which encodes methyl-CpG-binding protein 2 (MeCP2). The brain-abundant MeCP2 protein mainly functions as a transcriptional regulator for neurodevelopment-associated genes. Specific functions of MeCP2 in certain neuron types remain to be known. Although cholinergic system is an important modulating system in brain, how MeCP2 in cholinergic neurons contribute to RTT has not been clearly understood...
January 13, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28089766/males-with-mecp2-c-terminal-related-atypical-rett-syndromes-and-their-carrier-mothers
#4
Gabriel M Ronen, Lauren I Brady, Mark A Tarnopolsky
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization...
October 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28069353/effects-of-chronic-exposure-to-low-dose-thip-on-brainstem-neuronal-excitability-in-mouse-models-of-rett-syndrome-evidence-from-symptomatic-females
#5
Weiwei Zhong, Christopher Mychal Johnson, Ningren Cui, Hao Xing, Yang Wu, Chun Jiang
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations of the MECP2 gene, affecting predominantly females. One of the characteristic features of the disease is defective brainstem autonomic function. In Mecp2(-/Y) mice, several groups of brainstem neurons are overly excitable, which causes destabilization of neuronal networks for the autonomic control. We have previously shown that the extrasynaptic GABAA receptor agonist THIP relieves many RTT-like symptoms in Mecp2(-/Y) mice. Although neuronal activity is inhibited by acute THIP exposure, how a chronic treatment affects neuronal excitability remains elusive...
January 6, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28063942/4-hydroxynonenal-protein-adducts-key-mediator-in-rett-syndrome-oxinflammation
#6
REVIEW
Giuseppe Valacchi, Alessandra Pecorelli, Carlo Cervellati, Joussef Hayek
In the last 15 years a strong correlation between oxidative stress (OxS) and Rett syndrome (RTT), a rare neurodevelopmental disorder known to be caused in 95% of the cases, by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, has been well documented. Here, we revised, summarized and discussed the current knowledge on the role of lipid peroxidation byproducts, with special emphasis on 4-hydroxynonenal (4HNE), in RTT pathophysiology. The posttranslational modifications of proteins via 4HNE, known as 4HNE protein adducts (4NHE-PAs), causing detrimental effects on protein functions, appear to contribute to the clinical severity of the syndrome, since their levels increase significantly during the subsequent 4 clinical stages, reaching the maximum degree at stage 4, represented by a late motor deterioration...
January 5, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28063007/oxygen-exchange-and-energy-metabolism-in-erythrocytes-of-rett-syndrome-and-their-relationships-with-respiratory-alterations
#7
Chiara Ciaccio, Donato Di Pierro, Diego Sbardella, Grazia Raffaella Tundo, Paolo Curatolo, Cinzia Galasso, Marta Elena Santarone, Maurizio Casasco, Paola Cozza, Alessio Cortelazzo, Marcello Rossi, Claudio De Felice, Joussef Hayek, Massimo Coletta, Stefano Marini
Rett syndrome (RTT) is a neurodevelopmental disorder, mainly affecting females, which is associated to a mutation on the methyl-CpG-binding protein 2 gene. In the pathogenesis and progression of classic RTT, red blood cell (RBC) morphology has been shown to be an important biosensor for redox imbalance and chronic hypoxemia. Here we have evaluated the impact of oxidation and redox imbalance on several functional properties of RTT erythrocytes. In particular, we report for the first time a stopped-flow measurement of the kinetics of oxygen release by RBCs and the analysis of the intrinsic affinity of the hemoglobin (Hb)...
January 7, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28062374/proteomic-analysis-of-the-rett-syndrome-experimental-model-mecp2-q63x-mutant-zebrafish
#8
Alessio Cortelazzo, Thomas Pietri, Claudio De Felice, Silvia Leoncini, Roberto Guerranti, Cinzia Signorini, Anna Maria Timperio, Lello Zolla, Lucia Ciccoli, Joussef Hayek
: Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Recently, a zebrafish carrying a mecp2-null mutation has been developed with the resulting phenotypes exhibiting defective sensory and thigmotactic responses, and abnormal motor behavior reminiscent of the human disease. Here, we performed a proteomic analysis to examine protein expression changes in mecp2-null vs. wild-type larvae and adult zebrafish...
January 3, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28041965/analysis-of-gene-expression-in-ca-2-dependent-activator-protein-for-secretion-2-cadps2-knockout-cerebellum-using-genechip-and-kegg-pathways
#9
Tetsushi Sadakata, Yo Shinoda, Yasuki Ishizaki, Teiichi Furuichi
In the mouse cerebellum, Ca(2+)-dependent activator protein for secretion 2 (CADPS2, CAPS2) is involved in regulated secretion from dense-core vesicles (DCVs), which contain neuropeptides including brain-derived neurotrophic factor (BDNF) and neurotrophin-3 (NT-3). Capds2 knockout (KO) mice show impaired cerebellar development in addition to autistic-like behavioral phenotypes. To understand the molecular impact caused by loss of Capds2, we analyzed gene expression profiles in the Capds2 KO cerebellum using a GeneChip microarray and the KEGG Pathway database...
December 29, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/28007990/longitudinal-course-of-epilepsy-in-rett-syndrome-and-related-disorders
#10
Daniel C Tarquinio, Wei Hou, Anne Berg, Walter E Kaufmann, Jane B Lane, Steven A Skinner, Kathleen J Motil, Jeffrey L Neul, Alan K Percy, Daniel G Glaze
Epilepsy is common in Rett syndrome, an X-linked dominant disorder caused by mutations in the MECP2 gene, and in Rett-related disorders, such as MECP2 duplication. However, neither the longitudinal course of epilepsy nor the patterns of seizure onset and remission have been described in Rett syndrome and related conditions. The present study summarizes the findings of the Rett syndrome Natural History study. Participants with clinical Rett syndrome and those with MECP2 mutations without the clinical syndrome were recruited through the Rett Natural History study from 2006 to 2015...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28007906/igf1-neuronal-response-in-the-absence-of-mecp2-is-dependent-on-tralpha-3
#11
Janaina S de Souza, Cassiano Carromeu, Laila B Torres, Bruno H S Araujo, Fernanda R Cugola, Rui M B Maciel, Alysson R Muotri, Gisele Giannocco
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder in which the MECP2 (methyl CpG-binding protein 2) gene is mutated. Recent studies showed that RTT-derived neurons have many cellular deficits when compared to control, such as: less synapses, lower dendritic arborization and reduced spine density. Interestingly, treatment of RTT-derived neurons with Insulin-like Growth Factor 1 (IGF1) could rescue some of these cellular phenotypes. Given the critical role of IGF1 during neurodevelopment, the present study used human induced pluripotent stem cells (iPSCs) from RTT and control individuals to investigate the gene expression profile of IGF1 and IGF1R on different developmental stages of differentiation...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27995975/rna-activation-of-haploinsufficient-foxg1-gene-in-murine-neocortex
#12
Cristina Fimiani, Elisa Goina, Qin Su, Guangping Gao, Antonello Mallamaci
More than one hundred distinct gene hemizygosities are specifically linked to epilepsy, mental retardation, autism, schizophrenia and neuro-degeneration. Radical repair of these gene deficits via genome engineering is hardly feasible. The same applies to therapeutic stimulation of the spared allele by artificial transactivators. Small activating RNAs (saRNAs) offer an alternative, appealing approach. As a proof-of-principle, here we tested this approach on the Rett syndrome-linked, haploinsufficient, Foxg1 brain patterning gene...
December 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27995568/expression-of-phospho-mecp2s-in-the-developing-rat-brain-and-function-of-postnatal-mecp2-in-cerebellar-neural-cell-development
#13
Fang Liu, Jing-Jing Ni, Feng-Yan Sun
Abnormal expression and dysfunction of methyl-CpG binding protein 2 (MeCP2) cause Rett syndrome (RTT). The diverse phosphorylation modifications modulate MeCP2 function in neural cells. Using western blot and immunohistochemistry, we examined the expression patterns of MeCP2 and three phospho-MeCP2s (pMeCP2s) in the developing rat brain. The expression of MeCP2 and phospho-S80 (pS80) MeCP2 increased while pS421 MeCP2 and pS292 MeCP2 decreased with brain maturation. In contrast to the nuclear localization of MeCP2 and pS80 MeCP2, pS421 MeCP2 and pS292 MeCP2 were mainly expressed in the cytoplasmic compartment...
December 19, 2016: Neuroscience Bulletin
https://www.readbyqxmd.com/read/27988477/effectiveness-and-tolerability-of-antiepileptic-drugs-in-104-girls-with-rett-syndrome
#14
Aglaia Vignoli, Miriam Nella Savini, Maria Sonia Nowbut, Angela Peron, Katherine Turner, Francesca La Briola, Maria Paola Canevini
: Approximately 60-80% of girls with Rett Syndrome (RTT) have epilepsy, which represents one of the most severe problems clinicians have to deal with, especially when patients are 7-12years old. The aim of this study was to analyze the antiepileptic drugs (AEDs) prescribed in RTT, and to assess their effectiveness and tolerability in different age groups from early infancy to adulthood. We included in this study 104 girls, aged 2-42years (mean age 13.9years): 89 had a mutation in MECP2, 5 in CDKL5, 2 in FOXG1, and the mutational status was unknown in the remaining 8...
December 15, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27976757/efficient-and-versatile-crispr-engineering-of-human-neurons-in-culture-to-model-neurological-disorders
#15
Ruth R Shah, Justyna Cholewa-Waclaw, Faith C J Davies, Katie M Paton, Ronan Chaligne, Edith Heard, Catherine M Abbott, Adrian P Bird
The recent identification of multiple new genetic causes of neurological disorders highlights the need for model systems that give experimental access to the underlying biology. In particular, the ability to couple disease-causing mutations with human neuronal differentiation systems would be beneficial. Gene targeting is a well-known approach for dissecting gene function, but low rates of homologous recombination in somatic cells (including neuronal cells) have traditionally impeded the development of robust cellular models of neurological disorders...
November 15, 2016: Wellcome Open Res
https://www.readbyqxmd.com/read/27974239/a-codon-optimized-mecp2-transgene-corrects-breathing-deficits-and-improves-survival-in-a-mouse-model-of-rett-syndrome
#16
Valerie Matagne, Yann Ehinger, Lydia Saidi, Ana Borges-Correia, Martine Barkats, Marc Bartoli, Laurent Villard, Jean-Christophe Roux
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of intellectual disability in girls and there is currently no cure for the disease. The finding that the deficits caused by the loss of Mecp2 are reversible in the mouse has bolstered interest in gene therapy as a cure for RTT. In order to assess the feasibility of gene therapy in a RTT mouse model, and in keeping with translational goals, we investigated the efficacy of a self-complementary AAV9 vector expressing a codon-optimized version of Mecp2 (AAV9-MCO) delivered via a systemic approach in early symptomatic Mecp2-deficient (KO) mice...
December 11, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27965538/lack-of-cdkl5-disrupts-the-organization-of-excitatory-and-inhibitory-synapses-and-parvalbumin-interneurons-in-the-primary-visual-cortex
#17
Riccardo Pizzo, Antonia Gurgone, Enrico Castroflorio, Elena Amendola, Cornelius Gross, Marco Sassoè-Pognetto, Maurizio Giustetto
Cyclin-dependent kinase-like 5 (CDKL5) mutations are found in severe neurodevelopmental disorders, including the Hanefeld variant of Rett syndrome (RTT; CDKL5 disorder). CDKL5 loss-of-function murine models recapitulate pathological signs of the human disease, such as visual attention deficits and reduced visual acuity. Here we investigated the cellular and synaptic substrates of visual defects by studying the organization of the primary visual cortex (V1) of Cdkl5(-/y) mice. We found a severe reduction of c-Fos expression in V1 of Cdkl5(-/y) mutants, suggesting circuit hypoactivity...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27965390/dna-methylation-in-the-gene-body-influences-mecp2-mediated-gene-repression
#18
Benyam Kinde, Dennis Y Wu, Michael E Greenberg, Harrison W Gabel
Rett syndrome is a severe neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein gene (MECP2). MeCP2 is a methyl-cytosine binding protein that is proposed to function as a transcriptional repressor. However, multiple gene expression studies comparing wild-type and MeCP2-deficient neurons have failed to identify gene expression changes consistent with loss of a classical transcriptional repressor. Recent work suggests that one function of MeCP2 in neurons is to temper the expression of the longest genes in the genome by binding to methylated CA dinucleotides (mCA) within transcribed regions of these genes...
December 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27943027/fty720-attenuates-6-ohda-associated-dopaminergic-degeneration-in-cellular-and-mouse-parkinsonian-models
#19
Manru Ren, Minxing Han, Xinbing Wei, Ying Guo, Huanying Shi, Xiumei Zhang, Ruth G Perez, Haiyan Lou
FTY720 (fingolimod) is the first oral drug approved for treating relapsing-remitting forms of multiple sclerosis. It is also protective in other neurological models including ischemia, Alzheimer's disease, Huntington disease and Rett syndrome. However, whether it might protect in a 6-hydroxydopamine (6-OHDA) mouse model associated with the dopaminergic pathology of Parkinson's disease (PD), has not been explored. Therefore, in the present study, we investigated the effects of FTY720 on 6-OHDA-induced neurotoxicity in cell cultures and mice...
December 9, 2016: Neurochemical Research
https://www.readbyqxmd.com/read/27934853/clinical-and-biological-progress-over-50-years-in-rett-syndrome
#20
REVIEW
Helen Leonard, Stuart Cobb, Jenny Downs
In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders...
January 2017: Nature Reviews. Neurology
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