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https://www.readbyqxmd.com/read/29474484/transgenerational-effects-of-prenatal-restricted-diet-on-gene-expression-and-histone-modifications-in-the-rat
#1
Joanna Nowacka-Woszuk, Izabela Szczerbal, Anna M Malinowska, Agata Chmurzynska
Dietary triggers acting on a developing fetus can affect the functioning of the body in later life; this can be observed on various levels, including epigenetic modifications and gene expression. Early-life programmed changes may be transmitted to successive generations. In this study, the impact of prenatal restricted diet was studied in four generations of rats. We hypothesized that this diet can induce changes in the expression of major genes involved in two epigenetic mechanisms: DNA methylation and histone modifications...
2018: PloS One
https://www.readbyqxmd.com/read/29468173/effect-of-desipramine-on-patients-with-breathing-disorders-in-rett-syndrome
#2
Josette Mancini, Jean-Christophe Dubus, Elisabeth Jouve, Jean-Christophe Roux, Patricia Franco, Emmanuelle Lagrue, Pierre Castelnau, Claude Cances, Yves Chaix, Christelle Rougeot-Jung, Catherine Cornu, Vincent Desportes, Louis Vallée, Nadia Bahi-Buisson, Romain Truillet, Laurence Attolini, Laurent Villard, Olivier Blin, Joëlle Micallef
Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced the number of apneas in Mecp2-deficient mice, a model of RTT. We planned a phase 2 trial to test its efficacy and its safety on breathing patterns in 36 girls with RTT. Methods: The trial was a 6-month, multicenter, randomized, double-blind, placebo-controlled study registered with ClinicalTrials...
February 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29464197/mecp2-deficiency-leads-to-loss-of-glial-kir4-1
#3
Uri Kahanovitch, Vishnu A Cuddapah, Natasha L Pacheco, Leanne M Holt, Daniel K Mulkey, Alan K Percy, Michelle L Olsen
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder usually caused by mutations in methyl-CpG-binding protein 2 (MeCP2). RTT is typified by apparently normal development until 6-18 mo of age, when motor and communicative skills regress and hand stereotypies, autonomic symptoms, and seizures present. Restoration of MeCP2 function selectively to astrocytes reversed several deficits in a murine model of RTT, but the mechanism of this rescue is unknown. Astrocytes carry out many essential functions required for normal brain functioning, including extracellular K+ buffering...
January 2018: ENeuro
https://www.readbyqxmd.com/read/29447921/dna-demethylation-of-claudin-4-suppresses-migration-and-invasion-in-laryngeal-squamous-carcinoma-cells
#4
Yafang Liu, Kai Chang, Kexin Fu, Xinjie Dong, Xiaoshuai Chen, Jixuan Liu, Ni Cui, Jinsong Ni
Claudin-4 (CLDN4) is a member of the claudin transmembrane protein family, which consists of integral membrane proteins that are components of the epithelial cell tight junctions; these tight junctions regulate movement of solutes and ions through the paracellular space. CLDN4 is also a differentiation marker and is believed to indicate an epithelial phenotype. However, the role of CLDN4 in laryngeal squamous carcinoma is still unclear. Here, we showed that CLDN4 expression was down-regulated in laryngeal squamous carcinoma tissues and negatively correlated with Methyl-CpG-binding protein 2 (MeCP2)...
February 12, 2018: Human Pathology
https://www.readbyqxmd.com/read/29445033/rett-syndrome-a-neurological-disorder-with-metabolic-components
#5
REVIEW
Stephanie M Kyle, Neeti Vashi, Monica J Justice
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 ( MECP2 ), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief. Thought to be an entirely neurological disorder, RTT research has focused on the role of MECP2 in the central nervous system...
February 2018: Open Biology
https://www.readbyqxmd.com/read/29438740/adult-hippocampal-mecp2-preserves-the-genomic-responsiveness-to-learning-required-for-long-term-memory-formation
#6
Kubra Gulmez Karaca, David V C Brito, Benjamin Zeuch, Ana M M Oliveira
MeCP2 is required both during postnatal neurodevelopment and throughout the adult life for brain function. Although it is well accepted that MeCP2 in the maturing nervous system is critical for establishing normal development, the functions of MeCP2 during adulthood are poorly understood. Particularly, the requirement of hippocampal MeCP2 for cognitive abilities in the adult is not studied. To characterize the role of MeCP2 in adult neuronal function and cognition, we used a temporal and region-specific disruption of MeCP2 expression in the hippocampus of adult male mice...
February 10, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29431277/mecp2-at-hook1-mutations-in-patients-with-intellectual-disability-and-or-schizophrenia-disrupt-dna-binding-and-chromatin-compaction-in-vitro
#7
Taimoor I Sheikh, Ricardo Harripaul, Muhammad Ayub, John B Vincent
Mutations in the Methyl-CpG-binding protein-2 gene (MECP2) are commonly associated with Rett syndrome. However, it has long been appreciated that there exists a spectrum of neuropsychiatric phenotypes associated with MECP2 variants. The most frequent Rett missense mutations are located in either the methyl-CpG-binding domain (MBD) or transcription repression domain (TRD). Clinical roles for mutations in other domains such as the intervening domain (ID) or AT-Hook domains have yet to be determined. Here, we report functional analysis of MECP2 missense mutations, located in AT-Hook1 within the ID, in a large Pakistani family with childhood onset cognitive decline and schizophrenia, de novo in a girl with atypical Rett syndrome, and de novo in a woman with schizophrenia...
February 12, 2018: Human Mutation
https://www.readbyqxmd.com/read/29428920/molecular-testing-of-mecp2-gene-in-rett-syndrome-phenotypes-in-indian-girls
#8
Meenakshi Lallar, Archana Rai, Priyanka Srivastava, Kausik Mandal, Neerja Gupta, Madhulika Kabra, Shubha R Phadke
OBJECTIVE: To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. DESIGN: Descriptive study. SETTING: Tertiary-care medical genetics center. PATIENTS: Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical Rett syndrome were classified into two groups. Group I consisted of girls with Classical and atypical Rett syndrome on basis on the Revised Rett Syndrome diagnostic criteria, 2010...
February 9, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29428602/tyr120asp-mutation-alters-domain-flexibility-and-dynamics-of-mecp2-dna-binding-domain-leading-to-impaired-dna-interaction-atomistic-characterization-of-a-rett-syndrome-causing-mutation
#9
Ilda D'Annessa, Anna Gandaglia, Elena Brivio, Gilda Stefanelli, Angelisa Frasca, Nicoletta Landsberger, Daniele Di Marino
Mutations in the X-linked MECP2 gene represent the main origin of Rett syndrome, causing a profound intellectual disability in females. MeCP2 is an epigenetic transcriptional regulator containing two main functional domains: a methyl-CpG binding domain (MBD) and a transcription repression domain (TRD). Over 600 pathogenic mutations were reported to affect the whole protein; almost half of missense mutations affect the MBD. Understanding the impact of these mutations on the MBD structure and interaction with DNA will foster the comprehension of their pathogenicity and possibly genotype/phenotype correlation studies...
February 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29423052/mage-a11-is-activated-through-tfcp2-zeb1-binding-sites-de-methylation-as-well-as-histone-modification-and-facilitates-escc-tumor-growth
#10
Shina Liu, Fei Liu, Weina Huang, Lina Gu, Lingjiao Meng, Yingchao Ju, Yunyan Wu, Juan Li, Lihua Liu, Meixiang Sang
Recently, we have reported that the product of Melanoma Antigens Genes (MAGE) family member MAGE-A11 is an independent poor prognostic marker for esophageal squamous cell carcinoma (ESCC). However, the reason how MAGE-A11 is activated in ESCC progression still remains unclear. In the current study, we demonstrated that DNA methylation and the subsequent histone posttranslational modifications play crucial roles in the regulation of MAGE-A11 in ESCC progression. We found that the methylation rate of TFCP2/ZEB1 binding site on MAGE-A11 promoter in ESCC tissues and cells is higher than the normal esophageal epithelial tissues and cells...
January 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29421650/first-report-of-an-unusual-novel-double-mutation-affecting-the-transcription-repression-domain-of-mecp2-and-causing-a-severe-phenotype-of-rett-syndrome-molecular-analyses-and-computational-investigation
#11
Rania Ghorbel, Raouia Ghorbel, Aida Rouissi, Nourhene Fendri-Kriaa, Ghada Ben Saleh, Neila Belguith, Leila Ammar-Keskes, Neziha Gouider-Khouja, Faiza Fakhfakh
Rett syndrome is an X-linked neurodevelopmental disorder that develops a profound intellectual and motor disability and affects 1 from 10 000 to 15 000 live female births. This disease is characterized by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress which is caused by mutations occurred in the X-linked MECP2 gene, encoding the methyl-CpG binding protein 2. This research study reports a molecular analysis via an exhaustive gene sequencing which reveals an unusual novel double mutation (c...
February 5, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29414525/electrographic-and-pharmacological-characterization-of-a-progressive-epilepsy-phenotype-in-female-mecp2-deficient-mice
#12
Robert G Wither, Sinisa Colic, Berj L Bardakjian, O Carter Snead, Liang Zhang, James H Eubanks
Rett Syndrome is a neurodevelopmental disorder caused primarily by mutations in the gene encoding Methyl-CpG-binding protein 2 (MECP2). Spontaneous epileptiform activity is a common co-morbidity present in Rett syndrome, and hyper-excitable neural networks are present in MeCP2-deficient mouse models of Rett syndrome. In this study we conducted a longitudinal assessment of spontaneous cortical electrographic discharges in female MeCP2-deficient mice and defined the pharmacological responsiveness of these discharges to anti-convulsant drugs...
January 26, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29409936/epigenetic-regulation-by-cpg-methylation-splits-strong-from-retarded-ifn%C3%AE-induced-il-18bp-in-epithelial-versus-monocytic-cells
#13
Malte Bachmann, Josef Pfeilschifter, Heiko Mühl
Interferon (IFN)-γ-inducing interleukin (IL)-18 is a crucial inflammatory cytokine systemically provided by monocytes. It is counteracted by IL-18 binding protein (IL-18BP), a decoy receptor that displays IFNγ-inducibility thus curbing inflammation by negative feedback. Since IL18BP inducibility is pronounced in human epithelial cells but diminished in monocytes, differential IL18BP regulation was investigated herein in both types of cells. Interestingly, DNA-demethylating 5-aza-2'-deoxycytidine enhanced IFNγ-induced IL-18BP only in monocytic but not in epithelial cells...
January 30, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29408968/microrna132-associated-multimodal-neuroimaging-patterns-in-unmedicated-major-depressive-disorder
#14
Shile Qi, Xiao Yang, Liansheng Zhao, Vince D Calhoun, Nora Perrone-Bizzozero, Shengfeng Liu, Rongtao Jiang, Tianzi Jiang, Jing Sui, Xiaohong Ma
There is compelling evidence that epigenetic factors contribute to the manifestation of depression, in which microRNA132 (miR-132) is suggested to play a pivotal role in the pathogenesis and neuronal mechanisms underlying the symptoms of depression. Additionally, several depression-associated genes [MECP2, ARHGAP32 (p250GAP), CREB, and period genes] were experimentally validated as miR-132 targets. However, most studies regarding miR-132 in major depressive disorder are based on post-mortem, animal models or genetic comparisons...
February 2, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29405930/mecp2-as-an-activator-of-gene-expression
#15
Patricia M Horvath, Lisa M Monteggia
Rett syndrome is a neurodevelopmental disorder that primarily affects females and is caused by mutations in the methyl-CpG-binding-protein 2 (MECP2) gene. Initially, MeCP2 had been shown to be a repressor of gene transcription. In their 2008 paper, Chahrour and colleagues (DOI: 10.1126/science.1153252) reported that MeCP2 could also function as a transcriptional activator.
February 2018: Trends in Neurosciences
https://www.readbyqxmd.com/read/29395664/rett-like-features-and-cortical-visual-impairment-in-a-japanese-patient-with-hecw2-mutation
#16
Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report a Japanese girl with Rett-like symptoms of severe ID, hypotonia, refractory epilepsy, and stereotypical hand movement (hand tapping, flapping, and wringing) after the age of 1 year. Characteristically, she had cortical visual impairment. She had difficulty swallowing since the age of 4 years, and diminished activity was noticeable since the age of 12 years, suggesting neurodevelopmental regression...
January 26, 2018: Brain & Development
https://www.readbyqxmd.com/read/29390993/efficient-strategy-for-the-molecular-diagnosis-of-intractable-early-onset-epilepsy-using-targeted-gene-sequencing
#17
John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang
BACKGROUND: We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate. METHODS: We assessed 74 patients with EOE whose seizures started before 3 years of age using a customized NGS panel that included 172 genes. Single nucleotide variants (SNVs) and exonic and chromosomal copy number variations (CNVs) were intensively examined with our customized pipeline and crosschecked with commercial or pre-built software...
February 1, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29351579/lack-of-methyl-cpg-binding-protein-2-mecp2-affects-cell-fate-refinement-during-embryonic-cortical-development
#18
Clementina Cobolli Gigli, Linda Scaramuzza, Marco De Simone, Riccardo L Rossi, Davide Pozzi, Massimiliano Pagani, Nicoletta Landsberger, Francesco Bedogni
During differentiation, neurons progressively restrict their fate repressing the expression of specific genes. Here we describe the involvement in such developmental steps of the methyl-CpG binding protein 2 (MeCP2), an epigenetic factor that participates to chromatin folding and transcriptional regulation. We previously reported that, due to transcriptional impairments, the maturation of Mecp2 null neurons is delayed. To evaluate whether this could stem from altered progenitors proliferation and differentiation, we investigated whether lack of Mecp2 affects these features both in vitro and in vivo...
January 17, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29345269/tributyltin-induces-epigenetic-changes-and-decreases-the-expression-of-nuclear-respiratory-factor-1
#19
Saki Hanaoka, Keishi Ishida, Saki Tanaka, Shuichiro Sakamoto, Katsuhiro Okuda, Seigo Sanoh, Shigeru Ohta, Yaichiro Kotake
Tributyltin (TBT), a common organotin environmental pollutant, has been widely used as a component of marine antifouling paints. We previously reported that exposure to TBT inhibits the expression and DNA binding of nuclear respiratory factor-1 (NRF-1) and causes neurotoxicity. In the present study, we focused on the epigenetic effects of TBT and investigated whether TBT decreases NRF-1 expression via epigenetic modifications in SH-SY5Y human neuroblastoma cells. First, we found that exposure to 300 nM TBT decreases NRF-1 expression...
January 18, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29341476/a-rare-male-patient-with-classic-rett-syndrome-caused-by-mecp2_e1-mutation
#20
Narumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi, Aya Goji, Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported...
January 17, 2018: American Journal of Medical Genetics. Part A
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