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https://www.readbyqxmd.com/read/29050935/the-l1-adhesion-molecule-normalizes-neuritogenesis-in-rett-syndrome-derived-neural-precursor-cells
#1
Myungsik Yoo, Cassiano Carromeu, Ohyoon Kwon, Alysson Muotri, Melitta Schachner
Therapeutic intervention is an important need in ameliorating the severe consequences of Rett Syndrome (RTT), a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein-2 (MeCP2). Following previously observed morphological defects in induced pluripotent stem cell (iPSC)-derived neurons obtained from female RTT patients, we hypothesized transfection with the L1 cell adhesion molecule (L1) could contribute to normalizing a pathological male cell system bearing a nonsense mutation of MeCP2...
October 16, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29046627/mecp2-deficiency-in-neuroglia-new-progress-in-the-pathogenesis-of-rett-syndrome
#2
REVIEW
Xu-Rui Jin, Xing-Shu Chen, Lan Xiao
Rett syndrome (RTT) is an X-linked neurodevelopmental disease predominantly caused by mutations of the methyl-CpG-binding protein 2 (MeCP2) gene. Generally, RTT has been attributed to neuron-centric dysfunction. However, increasing evidence has shown that glial abnormalities are also involved in the pathogenesis of RTT. Mice that are MeCP2-null specifically in glial cells showed similar behavioral and/or neuronal abnormalities as those found in MeCP2-null mice, a mouse model of RTT. MeCP2 deficiency in astrocytes impacts the expression of glial intermediate filament proteins such as fibrillary acidic protein (GFAP) and S100 and induces neuron toxicity by disturbing glutamate metabolism or enhancing microtubule instability...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29042871/application-of-array-comparative-genomic-hybridization-in-korean-children-under-6-years-old-with-global-developmental-delay
#3
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29040584/strategies-to-advance-drug-discovery-in-rare-monogenic-intellectual-disability-syndromes
#4
Nuwan C Hettige, Karla Manzano-Vargas, Malvin Jefri, Carl Ernst
Some intellectual disability (ID) syndromes are caused by a mutation in a single gene and have been the focus of therapeutic intervention attempts such as Fragile X and Rett Syndrome, albeit with limited success. The rate at which new drugs are discovered and tested in humans for ID is progressing at a relatively slow pace, and this is particularly true for rare diseases where so few patients make high-quality clinical trials challenging. We discuss how new advances in human stem cell reprogramming and gene editing can facilitate preclinical study design and propose new workflows for how the preclinical to clinical trajectory might proceed given the small number of subjects available in rare monogenic ID syndromes...
October 6, 2017: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29037228/neuroepigenetic-mechanisms-in-disease
#5
REVIEW
Michael A Christopher, Stephanie M Kyle, David J Katz
Epigenetics allows for the inheritance of information in cellular lineages during differentiation, independent of changes to the underlying genetic sequence. This raises the question of whether epigenetic mechanisms also function in post-mitotic neurons. During the long life of the neuron, fluctuations in gene expression allow the cell to pass through stages of differentiation, modulate synaptic activity in response to environmental cues, and fortify the cell through age-related neuroprotective pathways. Emerging evidence suggests that epigenetic mechanisms such as DNA methylation and histone modification permit these dynamic changes in gene expression throughout the life of a neuron...
October 16, 2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/29023665/clinician-s-guide-to-genes-associated-with-rett-like-phenotypes-investigation-of-a-danish-cohort-and-review-of-the-literature
#6
REVIEW
Bitten Schönewolf-Greulich, Anne-Marie Bisgaard, Rikke S Møller, Morten Dunø, Karen Brøndum-Nielsen, Simran Kaur, Nicole J Van Bergen, Sebastian Lunke, Stefanie Eggers, Cathrine Jespersgaard, John Christodoulou, Zeynep Tümer
The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this paper we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies for example due to STXBP1 variants...
October 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29019980/radically-truncated-mecp2-rescues-rett-syndrome-like-neurological-defects
#7
Rebekah Tillotson, Jim Selfridge, Martha V Koerner, Kamal K E Gadalla, Jacky Guy, Dina De Sousa, Ralph D Hector, Stuart R Cobb, Adrian Bird
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine. Functionally, MeCP2 has been implicated in several cellular processes on the basis of its reported interaction with more than 40 binding partners, including transcriptional co-repressors (for example, the NCoR/SMRT complex), transcriptional activators, RNA, chromatin remodellers, microRNA-processing proteins and splicing factors...
October 11, 2017: Nature
https://www.readbyqxmd.com/read/29019977/neurobiology-domains-to-the-rescue-for-rett-syndrome
#8
Anne E West
No abstract text is available yet for this article.
October 11, 2017: Nature
https://www.readbyqxmd.com/read/28993314/mecp2-regulates-tnfa-during-zebrafish-embryonic-development-and-acute-inflammation
#9
M van der Vaart, O Svoboda, B G Weijts, R Espín-Palazón, V Sapp, T Pietri, M Bagnat, A R Muotri, D Traver
Mutations in MECP2 cause Rett syndrome, a severe neurological disorder with autism-like features. Duplication of MECP2 also causes severe neuropathology. Both diseases display immunological abnormalities that suggest a role for MeCP2 in controlling immune and inflammatory responses. Here, we used mecp2-null zebrafish to study the potential function of Mecp2 as an immunological regulator. Mecp2-deficiency resulted in an increase in neutrophil infiltration and upregulated expression of the pro- and anti-inflammatory cytokines Il1b and Il10 as a secondary response to disturbances in tissue homeostasis...
October 9, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28983239/the-serotonin-receptor-subtype-5b-specifically-interacts-with-serotonin-receptor-subtype-1a
#10
Sabine Niebert, Gijsbert J van Belle, Steffen Vogelgesang, Till Manzke, Marcus Niebert
Previously, we described the dysregulation of serotonin (5-HT) receptor subtype 5b (5-ht5b) in a mouse model of Rett syndrome (RTT). 5-ht5b has not been extensively studied, so we set out to characterize it in more detail. Unlike common cell surface receptors, 5-ht5b displays no membrane expression, while receptor clusters are located in endosomes. This unusual subcellular localization is at least in part controlled by glycosylation of the N-terminus, with 5-ht5b possessing fewer glycosylation sites than related receptors...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28979942/hdac6-brain-mapping-with-18-f-bavarostat-enabled-by-a-ru-mediated-deoxyfluorination
#11
Martin G Strebl, Arthur J Campbell, Wen-Ning Zhao, Frederick A Schroeder, Misha M Riley, Peter S Chindavong, Thomas M Morin, Stephen J Haggarty, Florence F Wagner, Tobias Ritter, Jacob M Hooker
Histone deacetylase 6 (HDAC6) function and dysregulation have been implicated in the etiology of certain cancers and more recently in central nervous system (CNS) disorders including Rett syndrome, Alzheimer's and Parkinson's diseases, and major depressive disorder. HDAC6-selective inhibitors have therapeutic potential, but in the CNS drug space the development of highly brain penetrant HDAC inhibitors has been a persistent challenge. Moreover, no tool exists to directly characterize HDAC6 and its related biology in the living human brain...
September 27, 2017: ACS Central Science
https://www.readbyqxmd.com/read/28978716/immunization-antibiotic-use-and-pneumococcal-colonization-over-a-15-year-period
#12
Grace M Lee, Ken Kleinman, Stephen Pelton, Marc Lipsitch, Susan S Huang, Matt Lakoma, Maya Dutta-Linn, Melisa Rett, William P Hanage, Jonathan A Finkelstein
BACKGROUND: Rates of invasive pneumococcal disease have declined since widespread introduction of pneumococcal conjugate vaccines (PCVs) in the United States. We evaluated the impact of immunization status and recent antibiotic use on an individual child's risk of colonization. METHODS: This study extends previously reported data from children <7 years of age seen for well child or acute care visits in Massachusetts communities. Nasopharyngeal swabs were collected during 6 surveillance seasons from 2000 to 2014...
October 4, 2017: Pediatrics
https://www.readbyqxmd.com/read/28973632/mecp2-isoform-n-terminal-modifications-affect-its-degradation-rate-and-are-disrupted-by-the-ala2val-rett-mutation
#13
Taimoor I Sheikh, Alexia Martínez de Paz, Shamim Akhtar, Juan Ausió, John B Vincent
Methyl CpG-binding protein 2 (MeCP2), the mutated protein in Rett syndrome (RTT), is a crucial chromatin-modifying and gene-regulatory protein that has two main isoforms (MeCP2_E1 and MeCP2_ E2) due to the alternative splicing and switching between translation start codons in exons one and two. Functionally, these two isoforms appear to be virtually identical; however, evidence suggests that only MeCP2_E1 is relevant to RTT, including a single RTT missense mutation in exon 1, Ala2Val. Here, we show that N-terminal co- and post-translational modifications differ for MeCP2_E1 and MeCP2_E1-Ala2Val, which result in different protein degradation rates in vitro...
July 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28969435/patterns-of-sedentary-time-and-ambulatory-physical-activity-in-a-danish-population-of-girls-and-women-with-rett-syndrome
#14
Michelle Stahlhut, Jenny Downs, Mette Aadahl, Helen Leonard, Anne-Marie Bisgaard, Eva Nordmark
BACKGROUND: Rett syndrome (RTT) is a rare neurodevelopmental disorder leading to multiple disabilities and high dependency on caregivers. This study aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristics with sedentary time. METHODS: All Danish females with RTT older than 5 years of age and with a MECP2 mutation were invited to participate. The activPAL and StepWatch Activity Monitor (SAM) were worn by participants for at least four days...
October 2, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28964591/a-double-blind-randomized-placebo-controlled-clinical-study-of-trofinetide-in-the-treatment-of-rett-syndrome
#15
Daniel G Glaze, Jeffrey L Neul, Alan Percy, Tim Feyma, Arthur Beisang, Alex Yaroshinsky, George Stoms, David Zuchero, Joseph Horrigan, Larry Glass, Nancy E Jones
BACKGROUND: This study aimed to determine the safety and tolerability of trofinetide and to evaluate efficacy measures in adolescent and adult females with Rett syndrome, a serious and debilitating neurodevelopmental condition for which no therapies are available for its core features. METHODS: This was an exploratory, phase 2, multicenter, double-blind, placebo-controlled, dose-escalation study of the safety and tolerability of trofinetide in 56 adolescent and adult females with Rett syndrome...
July 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28961504/deciphering-mecp2-associated-disorders-disrupted-circuits-and-the-hope-for-repair
#16
REVIEW
Zilong Qiu
MECP2 is a critical gene for neural development, mutations or duplication of which led to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorders (ASD). Extensive works during the past decade yield ample insights into the molecular and cellular functions of MeCP2 in neural development. Furthermore, genetic manipulations in Mecp2 mouse models strongly suggested that deficiency in synaptic plasticity and various behaviors of Mecp2 null or transgenic mice could be rescued in adulthood...
September 26, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28951555/retention-of-mitochondria-in-mature-human-red-blood-cells-as-the-result-of-autophagy-impairment-in-rett-syndrome
#17
Diego Sbardella, Grazia Raffaella Tundo, Luisa Campagnolo, Giuseppe Valacchi, Augusto Orlandi, Paolo Curatolo, Giovanna Borsellino, Maurizio D'Esposito, Chiara Ciaccio, Silvia Di Cesare, Donato Di Pierro, Cinzia Galasso, Marta Elena Santarone, Joussef Hayek, Massimiliano Coletta, Stefano Marini
Rett Syndrome (RTT), which affects approximately 1:10.000 live births, is a X-linked pervasive neuro-developmental disorder which is caused, in the vast majority of cases, by a sporadic mutation in the Methyl-CpG-binding protein-2 (MeCP2) gene. This is a transcriptional activator/repressor with presumed pleiotropic activities. The broad tissue expression of MeCP2 suggests that it may be involved in several metabolic pathways, but the molecular mechanisms which provoke the onset and progression of the syndrome are largely unknown...
September 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28947817/the-utility-of-next-generation-sequencing-for-molecular-diagnostics-in-rett-syndrome
#18
Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria Del Mar O'Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology...
September 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28935912/neurological-disorders-reversing-rett-syndrome
#19
Sarah Crunkhorn
No abstract text is available yet for this article.
September 22, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/28935587/glutamatergic-synapses-in-neurodevelopmental-disorders
#20
REVIEW
Edoardo Moretto, Luca Murru, Giuseppe Martano, Jenny Sassone, Maria Passafaro
Neurodevelopmental disorders (NDDs) are a group of diseases whose symptoms arise during childhood or adolescence and that impact several higher cognitive functions such as learning, sociability and mood. Accruing evidence suggests that a shared pathogenic mechanism underlying these diseases is the dysfunction of glutamatergic synapses. We summarize present knowledge on autism spectrum disorders (ASD), intellectual disability (ID), Down syndrome (DS), Rett syndrome (RS) and attention-deficit hyperactivity disorder (ADHD), highlighting the involvement of glutamatergic synapses and receptors in these disorders...
September 19, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
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