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https://www.readbyqxmd.com/read/28439102/mecp2-regulated-mirnas-control-early-human-neurogenesis-through-differential-effects-on-erk-and-akt-signaling
#1
N Mellios, D A Feldman, S D Sheridan, J P K Ip, S Kwok, S K Amoah, B Rosen, B A Rodriguez, B Crawford, R Swaminathan, S Chou, Y Li, M Ziats, C Ernst, R Jaenisch, S J Haggarty, M Sur
Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a multifunctional epigenetic regulator with known links to a wide spectrum of neuropsychiatric disorders. Although postnatal functions of MeCP2 have been thoroughly investigated, its role in prenatal brain development remains poorly understood. Given the well-established importance of microRNAs (miRNAs) in neurogenesis, we employed isogenic human RTT patient-derived induced pluripotent stem cell (iPSC) and MeCP2 short hairpin RNA knockdown approaches to identify novel MeCP2-regulated miRNAs enriched during early human neuronal development...
April 25, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28423315/mir-132-212-modulates-seasonal-adaptation-and-dendritic-morphology-of-the-central-circadian-clock
#2
Lucia Mendoza-Viveros, Cheng-Kang Chiang, Jonathan L K Ong, Sara Hegazi, Arthur H Cheng, Pascale Bouchard-Cannon, Michael Fana, Christopher Lowden, Peng Zhang, Béatrice Bothorel, Matthew G Michniewicz, Stephen T Magill, Melissa M Holmes, Richard H Goodman, Valérie Simonneaux, Daniel Figeys, Hai-Ying M Cheng
The central circadian pacemaker, the suprachiasmatic nucleus (SCN), encodes day length information by mechanisms that are not well understood. Here, we report that genetic ablation of miR-132/212 alters entrainment to different day lengths and non-24 hr day-night cycles, as well as photoperiodic regulation of Period2 expression in the SCN. SCN neurons from miR-132/212-deficient mice have significantly reduced dendritic spine density, along with altered methyl CpG-binding protein (MeCP2) rhythms. In Syrian hamsters, a model seasonal rodent, day length regulates spine density on SCN neurons in a melatonin-independent manner, as well as expression of miR-132, miR-212, and their direct target, MeCP2...
April 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28421879/dna-methylation-mechanism-of-intracellular-zinc-deficiency-induced-injury-in-primary-hippocampal-neurons-in-the-rat-brain
#3
Cong-Cong He, Zi-Yu Wang, Kun Tian, Wei Liu, Yi-Bo Li, Yan Hong, Li-Xia Yu, Wei Pang, Yu-Gang Jiang, Yan-Qiang Liu
OBJECTIVE: To explore Zn(2+) deficiency-induced neuronal injury in relation to DNA methylation, providing valuable data and basic information for clarifying the mechanism of Zn(2+) deficiency-induced neuronal injury. METHODS: Cultured hippocampal neurons were exposed to the cell membrane-permeant Zn(2+) chelator N,N,N',N'-Tetrakis (2-pyridylmethyl) ethylenediamine (TPEN) (2 μM), and to TPEN (2 μM) plus ZnSO4 (5 μM) for 24 hours. We analyzed intracellular Zn(2+) levels, neuronal viability, and protein/mRNA levels for DNA (cytosine-5) methyltransferase 1 (DNMT1), DNA (cytosine-5-) methyltransferase 3 alpha (DNMT3a), methyl CpG binding protein 2 (MeCP2), Brain-derived neurotrophic factor (BDNF), and growth arrest and DNA-damage-inducible, beta (GADD45b) in the treated neurons...
April 19, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28419872/stimulation-of-the-brain-serotonin-receptor-7-rescues-mitochondrial-dysfunction-in-female-mice-from-two-models-of-rett-syndrome
#4
Daniela Valenti, Lidia de Bari, Daniele Vigli, Enza Lacivita, Marcello Leopoldo, Giovanni Laviola, Rosa Anna Vacca, Bianca De Filippis
Rett syndrome (RTT) is a rare neurodevelopmental disorder, characterized by severe behavioral and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2) cause more than 95% of classic cases, and currently there is no cure for this devastating disorder. Recently we have demonstrated that neurobehavioral and brain molecular alterations can be rescued in a RTT mouse model, by pharmacological stimulation of the brain serotonin receptor 7 (5-HT7R). This member of the serotonin receptor family, crucially involved in the regulation of brain structural plasticity and cognitive processes, can be stimulated by systemic repeated treatment with LP-211, a brain-penetrant selective agonist...
April 15, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28399682/clinical-molecular-and-computational-analysis-in-patients-with-a-novel-double-mutation-and-a-new-synonymous-variant-in-mecp2-report-of-the-first-missense-mutation-within-the-at-hook1-cluster-in-rett-syndrome
#5
Marwa Kharrat, Yosra Kamoun, Fatma Kamoun, Emna Ellouze, Marwa Maalej, Nourhene Fendri-Kriaa, Leila Ammar-Keskes, Neila Belghith, Ali Gargouri, Chahnez Triki, Faiza Fakhfakh
Rett syndrome is an X-linked neurodevelopmental disorder, primarily caused by MECP2 mutations. In this study, clinical, molecular and bioinformatics analyses were performed in Rett patients to understand the relationship between MECP2 mutation type and the clinical severity. Two double MeCP2 mutations were detected: a novel one (p.G185 V in cis with p.R255X) in P1 and a known one (p.P179 S in cis with p.R255X) in P2. Besides, a novel synonymous mutation (c.807C>T; p.G269G), which could affect mRNA splicing, was identified in P3...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28397211/-application-of-chromosomal-microarray-analysis-for-the-diagnosis-of-children-with-intellectual-disability-developmental-delay-and-a-normal-karytype
#6
Ting Hu, Hongmei Zhu, Zhu Zhang, Jiamin Wang, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. METHODS: Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. RESULTS: Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28395743/generation-of-a-clonal-induced-pluripotent-stem-cell-ipsc-line-expressing-the-mutant-mecp2-allele-from-a-rett-syndrome-patient-fibroblast-line
#7
Lisa Hunihan, Jeffrey Brown, Angela Cacace, Alda Fernandes, Andrea Weston
Human fibroblast cells collected from a 3-year old, female Rett Syndrome patient with a 32bp deletion in the X-linked MECP2 gene were obtained from the Coriell Institute. Fibroblasts were reprogrammed to iPSC cells using a Sendai-virus delivery system expressing human KOSM transcription factors. Cell-line pluripotency was demonstrated by gene expression, immunocytochemistry, in-vitro differentiation trilineage capacity and was of normal karyotype. Interestingly, subsequent clones retained the epigenetic memory of the parent fibroblasts allowing for the segregation of wild-type and mutant expressing clones...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28394482/familial-cases-and-male-cases-with-mecp2-mutations
#8
Qingping Zhang, Ying Zhao, Xinhua Bao, Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu
This is the first report of Chinese familial cases with Rett syndrome (RTT) or X-linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases with MECP2 mutations in six Chinese families, including three females and five males with RTT or XLMR. All shared identical MECP2 mutations with their mothers. The three females fulfilled the diagnostic criteria for RTT, while the five males were XLMR. A random X-chromosome inactive (XCI) pattern was seen in all the three female patients and two mothers while a skewed XCI in the rest four mothers...
April 10, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28394409/evaluation-of-qtc-in-rett-syndrome-correlation-with-age-severity-and-genotype
#9
Jane Crosson, Siddharth Srivastava, Genila M Bibat, Siddharth Gupta, Aditi Kantipuly, Constance Smith-Hicks, Scott M Myers, Abanti Sanyal, Gayane Yenokyan, Joel Brenner, Sakkubai R Naidu
Rett syndrome (RTT) is caused by MECP2 mutations, resulting in various neurological symptoms. Prolonged corrected QT interval (QTc) is also reported and is a speculated cause of sudden death in RTT. The purpose of this study was to correlate QTc in RTT patients with age, clinical severity, and genotype. 100 RTT patients (98 females, 2 males) with MECP2 mutations underwent baseline neurological evaluation (KKI-RTT Severity Scale) and QTc measurement (standard 12 lead electrocardiogram) as part of our prospective natural history study...
April 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28394263/elevating-expression-of-mecp2-t158m-rescues-dna-binding-and-rett-syndrome-like-phenotypes
#10
Janine M Lamonica, Deborah Y Kwon, Darren Goffin, Polina Fenik, Brian S Johnson, Yue Cui, Hengyi Guo, Sigrid Veasey, Zhaolan Zhou
Mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome (RTT), a neurological disorder affecting cognitive development, respiration, and motor function. Genetic restoration of MeCP2 expression reverses RTT-like phenotypes in mice, highlighting the need to search for therapeutic approaches. Here, we have developed knockin mice recapitulating the most common RTT-associated missense mutation, MeCP2 T158M. We found that the T158M mutation impaired MECP2 binding to methylated DNA and destabilized MeCP2 protein in an age-dependent manner, leading to the development of RTT-like phenotypes in these mice...
April 10, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28383972/sustained-attention-in-the-face-of-distractors-a-study-of-children-with-rett-syndrome
#11
Susan A Rose, Sam Wass, Jeffery J Jankowski, Judith F Feldman, Aleksandra Djukic
OBJECTIVE: The object of the present study is to advance our understanding of the cognitive profile of Rett syndrome (RTT), an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. We focus on sustained attention, which plays a critical role in driving cognitive growth, and use an innovative, gaze-based task that minimizes demands on the limited verbal and motor abilities associated with RTT. METHOD: The task required the ability to sustain attention on a visual target (a butterfly) while inhibiting a prepotent response to look to moving distractors (trees and clouds) presented in the peripheral visual field...
April 6, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28374217/methylation-targeted-specificity-of-the-dna-binding-proteins-r-dpni-and-mecp2-studied-by-molecular-dynamics-simulations
#12
Siba Shanak, Ozlem Ulucan, Volkhard Helms
DNA methylation plays a major role in organismal development and the regulation of gene expression. Methylation of cytosine bases and the cellular roles of methylated cytosine in eukaryotes are well established, as well as methylation of adenine bases in bacterial genomes. Still lacking, however, is a general mechanistic understanding, in structural and thermodynamic terms, of how proteins recognize methylated DNA. Toward this aim, we present the results of molecular dynamics simulations, alchemical free energy perturbation, and MM-PBSA calculations to explain the specificity of the R...
May 2017: Journal of Molecular Modeling
https://www.readbyqxmd.com/read/28371371/zebrafish-mecp2-is-required-for-proper-axonal-elongation-of-motor-neurons-and-synapse-formation
#13
Keisuke Nozawa, Yanbin Lin, Ryota Kubodera, Yuki Shimizu, Hideomi Tanaka, Toshio Ohshima
Rett syndrome is a severe neurodevelopmental disorder. It is caused by a mutation in methyl-CpG binding protein 2 (MecP2), a transcriptional regulator that recruits protein complexes involved in histone modification and chromatin remodeling. However, the role of Mecp2 in Rett syndrome remains unclear. In this study, we investigated the function of Mecp2 in neuronal development using zebrafish embryos. Mecp2 expression was detected ubiquitously in the central nervous system and muscles at 28 h postfertilization (hpf)...
April 2, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28367307/transcriptome-analysis-of-microglia-in-a-mouse-model-of-rett-syndrome-differential-expression-of-genes-associated-with-microglia-macrophage-activation-and-cellular-stress
#14
Dejian Zhao, Ryan Mokhtari, Erika Pedrosa, Rayna Birnbaum, Deyou Zheng, Herbert M Lachman
BACKGROUND: Rett syndrome (RTT) is a severe, neurodevelopmental disorder primarily affecting girls, characterized by progressive loss of cognitive, social, and motor skills after a relatively brief period of typical development. It is usually due to de novo loss of function mutations in the X-linked gene, MeCP2, which codes for the gene expression and chromatin regulator, methyl-CpG binding protein 2. Although the behavioral phenotype appears to be primarily due to neuronal Mecp2 deficiency in mice, other cell types, including astrocytes and oligodendrocytes, also appear to contribute to some aspects of the RTT phenotype...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28367114/whole-genome-expression-analysis-in-a-mouse-model-of-tauopathy-identifies-mecp2-as-a-possible-regulator-of-tau-pathology
#15
Nicole M Maphis, Shanya Jiang, Jessica Binder, Carrie Wright, Banu Gopalan, Bruce T Lamb, Kiran Bhaskar
Increasing evidence suggests that hyperphosphorylation and aggregation of microtubule-associated protein tau (MAPT or tau) correlates with the development of cognitive impairment in Alzheimer's disease (AD) and related tauopathies. While numerous attempts have been made to model AD-relevant tau pathology in various animal models, there has been very limited success for these models to fully recapitulate the progression of disease as seen in human tauopathies. Here, we performed whole genome gene expression in a genomic mouse model of tauopathy that expressed human MAPT gene under the control of endogenous human MAPT promoter and also were complete knockout for endogenous mouse tau [referred to as 'hTau (MaptKO(Duke))' mice]...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28352654/net-silencing-by-let-7i-in-postural-tachycardia-syndrome
#16
Abdul Waheed Khan, Mark Ziemann, Susan J Corcoran, Harikrishnan K N, Jun Okabe, Haloom Rafehi, Scott S Maxwell, Murray D Esler, Assam El-Osta
While strongly implicated in postural tachycardia syndrome (POTS), considerable controversy exists regarding norepinephrine transporter (NET) loss of function. POTS is characterized by the clinical symptoms of orthostatic intolerance, lightheadedness, tachycardia, and syncope or near syncope with upright posture. Abnormal sympathetic nervous system activity is typical, of a type which suggests dysfunction of the NET, with evidence that the gene responsible is under tight epigenetic control. Using RNA of isolated chromatin combined with massive parallel sequencing (RICh-seq) we show that let-7i miRNA suppresses NET by methyl-CpG-binding protein 2 (MeCP2)...
March 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28352216/mitochondrial-dysfunction-in-the-pathogenesis-of-rett-syndrome-implications-for-mitochondria-targeted-therapies
#17
REVIEW
Natalya Shulyakova, Ana C Andreazza, Linda R Mills, James H Eubanks
First described over 50 years ago, Rett syndrome (RTT) is a neurodevelopmental disorder caused primarily by mutations of the X-linked MECP2 gene. RTT affects predominantly females, and has a prevalence of roughly 1 in every 10,000 female births. Prior to the discovery that mutations of MECP2 are the leading cause of RTT, there were suggestions that RTT could be a mitochondrial disease. In fact, several reports documented altered mitochondrial structure, and deficiencies in mitochondrial enzyme activity in different cells or tissues derived from RTT patients...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28351539/cardiovascular-autonomic-dysfunction-in-children-and-adolescents-with-rett-syndrome
#18
Ajay Kumar, Ashok Jaryal, Sheffali Gulati, Biswaroop Chakrabarty, Akanksha Singh, K K Deepak, R M Pandey, Neerja Gupta, Savita Sapra, Madhulika Kabra, Rajni Khajuria
BACKGROUND: Autonomic dysfunction is common in children with Rett syndrome. They usually manifest with agitation, persistent screaming, constipation, gastroesophageal reflux, aerophagia, hyperventilation, and breath-holding episodes. Cardiovascular autonomic dysfunction may result in fatal a arrhythmia. Many of these events are mistaken for seizures and treated with antiepileptics. METHODS: The present study was conducted in a tertiary care teaching hospital in north India for more than a six month period...
January 17, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28350187/epigenetic-status-of-h19-igf2-imprinted-genes-and-loss-of-5-hydroxymethylcytosine-in-the-brain-of-cloned-goats
#19
Mingtian Deng, Caifang Ren, Zifei Liu, Guomin Zhang, Feng Wang, Yongjie Wan
In mammals, the imprinted genes play vital roles in development and are generally controlled by DNA methylation at imprinting control regions (ICRs). Recently, it was discovered that 5-hydroxymethylcytosine (5-hmC) is a stable epigenetic modification; however, its functions in cloned animal genomes have not yet been fully elucidated. In this study, we interrogated and quantified the 5-hmC levels in the brain of cloned goats and discovered upregulation of Uhrf1 (p < 0.001), Dnmt1 (p < 0.05), Dnmt3a (p < 0...
March 28, 2017: Cellular Reprogramming
https://www.readbyqxmd.com/read/28348241/structure-of-the-mecp2-tblr1-complex-reveals-a-molecular-basis-for-rett-syndrome-and-related-disorders
#20
Valdeko Kruusvee, Matthew J Lyst, Ceitidh Taylor, Žygimantė Tarnauskaitė, Adrian P Bird, Atlanta G Cook
Rett syndrome (RTT) is an X-linked neurological disorder caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. The majority of RTT missense mutations disrupt the interaction of the MeCP2 with DNA or the nuclear receptor corepressor (NCoR)/silencing mediator of retinoic acid and thyroid receptors (SMRT) corepressor complex. Here, we show that the "NCoR/SMRT interaction domain" (NID) of MeCP2 directly contacts transducin-beta like 1 (TBL1) and TBL1 related (TBLR1), two paralogs that are core components of NCoR/SMRT...
March 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
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