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JOURNAL ARTICLE
Alicia M Hall, Noriko Kamei, Manlin Shao, Hyun-Seung Mun, Kevin Chen, Yuncai Chen, Tallie Z Baram
The mechanisms by which brain insults lead to subsequent epilepsy remain unclear. Insults including trauma, stroke, infections and long seizures (status epilepticus; SE) increase the nuclear expression and chromatin binding of the neuronal restrictive silencing factor / RE-1 silencing transcription factor (NRSF/REST). REST/NRSF orchestrates major disruption of the expression of key neuronal genes, including ion channels and neurotransmitter receptors, potentially contributing to epileptogenesis. Accordingly, transient interference with REST/NRSF chromatin binding after an epilepsy-provoking SE suppressed spontaneous seizures for the 12- day duration of a prior study...
April 19, 2024: ENeuro
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JOURNAL ARTICLE
Itzel Jatziri Contreras-García, Cindy Bandala, Iván Ignacio-Mejía, Luz Adriana Pichardo-Macías, Julieta Griselda Mendoza-Torreblanca, Mercedes Edna García-Cruz, Saúl Gómez-Manzo, Noemí Cárdenas-Rodríguez
Levetiracetam (LEV) is a drug commonly used as an anticonvulsant. However, recent evidence points to a possible role as an antioxidant. We previously demonstrated the antioxidant properties of LEV by significantly increasing catalase and superoxide dismutase activities and decreasing the hydrogen peroxide (H2O2) levels in the hippocampus of rats with temporal lobe epilepsy (TLE) showing scavenging properties against the hydroxyl radical. The aim of the present work was to evaluate, the effect of LEV on DNA oxidation, by determining 8‑hydroxy‑2‑deoxyguanosine (8‑OHdG) levels, and glutathione content, through reduced (GSH) and oxidized (GSSG) glutathione levels, in the hippocampus of rats with TLE...
March 28, 2024: Acta Neurobiologiae Experimentalis
#3
REVIEW
Angela T Morgan, David J Amor, Miya D St John, Ingrid E Scheffer, Michael S Hildebrand
Severe speech disorders lead to poor literacy, reduced academic attainment and negative psychosocial outcomes. As early as the 1950s, the familial nature of speech disorders was recognized, implying a genetic basis; but the molecular genetic basis remained unknown. In 2001, investigation of a large three generational family with severe speech disorder, known as childhood apraxia of speech (CAS), revealed the first causative gene; FOXP2. A long hiatus then followed for CAS candidate genes, but in the past three years, genetic analysis of cohorts ascertained for CAS have revealed over 30 causative genes...
February 16, 2024: Molecular Psychiatry
#4
JOURNAL ARTICLE
Clemer Abad, Maria C Robayo, Maria Del Mar Muñiz-Moreno, Maria T Bernardi, Maria G Otero, Christina Kosanovic, Anthony J Griswold, Tyler Mark Pierson, Katherina Walz, Juan I Young
GATAD2B (GATA zinc finger domain containing 2B) variants are associated with the neurodevelopmental syndrome GAND, characterized by intellectual disability (ID), infantile hypotonia, apraxia of speech, epilepsy, macrocephaly and distinct facial features. GATAD2B encodes for a subunit of the Nucleosome Remodeling and Histone Deacetylase (NuRD) complex. NuRD controls transcriptional programs critical for proper neurodevelopment by coupling histone deacetylase with ATP-dependent chromatin remodeling activity. To study mechanisms of pathogenesis for GAND, we characterized a mouse model harboring an inactivating mutation in Gatad2b...
January 18, 2024: Translational Psychiatry
#5
JOURNAL ARTICLE
Yu Chen, Xiao-Lin Wu, Hai-Bo Hu, Shu-Nan Yang, Zi-Yi Zhang, Guan-Ling Fu, Chu-Tong Zhang, Zi-Meng Li, Feng Wu, Kai-Wei Si, Yan-Bing Ma, Sheng-Feng Ji, Jin-Song Zhou, Xiao-Yong Ren, Xin-Li Xiao, Jian-Xin Liu
Sprouting of mossy fibers, one of the most consistent findings in tissue from patients with mesial temporal lobe epilepsy, exhibits several uncommon axonal growth features and has been considered a paradigmatic example of circuit plasticity that occurs in the adult brain. Clarifying the mechanisms responsible may provide new insight into epileptogenesis as well as axon misguidance in the central nervous system. Methyl-CpG-binding protein 2 (MeCP2) binds to methylated genomic DNA to regulate a range of physiological functions implicated in neuronal development and adult synaptic plasticity...
November 2023: Neurobiology of Disease
#6
JOURNAL ARTICLE
Jakub Trizuljak, Jakub Duben, Ivona Blaháková, Zuzana Vrzalová, Kateřina Staňo Kozubík, Jiří Štika, Lenka Radová, Veronika Bergerová, Soňa Mejstříková, Věra Hořínová, Radim Jančálek, Šárka Pospíšilová, Michael Doubek
INTRODUCTION: In contrast with the well-known and described deletion of the 22q11 chromosome region responsible for DiGeorge syndrome, 22q12 deletions are much rarer. Only a few dozen cases have been reported so far. This region contains genes responsible for cell cycle control, chromatin modification, transmembrane signaling, cell adhesion, and neural development, as well as several cancer predisposition genes. CASE PRESENTATION: We present a patient with cleft palate, sensorineural hearing loss, vestibular dysfunction, epilepsy, mild to moderate intellectual disability, divergent strabism, pes equinovarus, platyspondylia, and bilateral schwannoma...
October 2023: Molecular Syndromology
#7
JOURNAL ARTICLE
Atefeh Mir, Yongjun Song, Hane Lee, Zakiye Nadeali, Mohammad Amin Tabatabaiefar
BACKGROUND: The chromodomain helicase DNA-binding protein 2 (CHD2) is a member of the ATP-dependent chromatin remodelling family of proteins, which are critical for the assembly and regulation of chromatin. De novo variants and deletions in the CHD2 gene have been associated with childhood-onset developmental and epileptic encephalopathies type 94 (DEE 94). This study reports a novel deleterious de novo heterozygous frameshift insertion variant in the CHD2 gene. METHODS: The causative variant was diagnosed using whole-exome sequencing...
October 25, 2023: Molecular Genetics & Genomic Medicine
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JOURNAL ARTICLE
Francesca Mastropasqua, Marika Oksanen, Cristina Soldini, Shemim Alatar, Abishek Arora, Roberto Ballarino, Maya Molinari, Federico Agostini, Axel Poulet, Michelle Watts, Ielyzaveta Rabkina, Martin Becker, Danyang Li, Britt-Marie Anderlid, Johan Isaksson, Karl Lundin Remnelius, Mohsen Moslem, Yannick Jacob, Anna Falk, Nicola Crosetto, Magda Bienko, Emanuela Santini, Anders Borgkvist, Sven Bölte, Kristiina Tammimies
Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U (HNRNPU) have been identified in several neurodevelopmental disorders (NDDs). HNRNPU is widely expressed in the human brain and shows the highest postnatal expression in the cerebellum. Recent studies have investigated the role of HNRNPU in cerebral cortical development, but the effects of HNRNPU deficiency on cerebellar development remain unknown. Here, we describe the molecular and cellular outcomes of HNRNPU locus deficiency during in vitro neural differentiation of patient-derived and isogenic neuroepithelial stem cells with a hindbrain profile...
October 15, 2023: Biology Open
#9
JOURNAL ARTICLE
Xin Pan, Sihan Liu, Xiaoshu Feng, Li Liu, Xu Zhang, Guanhua Qian, Na Liang, Hong Yao, Xiaojing Dong, Bo Tan
The human SET nuclear proto-oncogene (SET) gene is a protein-coding gene that encodes proteins that affects chromatin remodeling and gene transcription. Mutations in the SET gene have been reported to cause intellectual disability (ID) and epilepsy. In this study, we collected and analyzed clinical, genetic, and transcript features of two unrelated Chinese patients with ID. Both patients were characterized by moderate intellectual disability. Whole-exome sequencing identified two novel heterozygous mutations in the SET gene: NM_001122821...
September 22, 2023: Journal of Human Genetics
#10
JOURNAL ARTICLE
Laura de Diego-Garcia, Gary P Brennan, Theresa Auer, Aida Menendez-Mendez, Alberto Parras, Alba Martin-Gil, Meghma Mitra, Ivana Ollà, Leticia Villalba-Benito, Beatriz Gil, Mariana Alves, Kelvin Lau, Norman Delanty, Alan Beausang, Jane Cryan, Francesca M Brett, Michael A Farrell, Donncha F O'Brien, Raúl Mendez, Gonzalo Carracedo-Rodríguez, David C Henshall, José J Lucas, Tobias Engel
OBJECTIVE: Posttranscriptional mechanisms are increasingly recognized as important contributors to the formation of hyperexcitable networks in epilepsy. Messenger RNA (mRNA) polyadenylation is a key regulatory mechanism governing protein expression by enhancing mRNA stability and translation. Previous studies have shown large-scale changes in mRNA polyadenylation in the hippocampus of mice during epilepsy development. The cytoplasmic polyadenylation element-binding protein CPEB4 was found to drive epilepsy-induced poly(A) tail changes, and mice lacking CPEB4 develop a more severe seizure and epilepsy phenotype...
August 6, 2023: Epilepsia
#11
JOURNAL ARTICLE
Ozasvi R Shanker, Sonali Kumar, Aparna Banerjee Dixit, Jyotirmoy Banerjee, Manjari Tripathi, P Sarat Chandra
Higher-order DNA structure and gene expression are governed by epigenetic processes like DNA methylation and histone modifications. Abnormal epigenetic mechanisms are known to contribute to the emergence of numerous diseases, including cancer. Historically, the chromatin abnormalities were only considered to be limited to discrete DNA sequences and were thought to be associated with rare genetic syndrome however, recent discoveries have pointed to genome-wide level changes in the epigenetic machinery which has contributed to a better knowledge of the mechanisms underlying developmental and degenerative neuronal problems associated with diseases such as Parkinson's disease, Huntington's disease, Epilepsy, Multiple sclerosis, etc...
2023: Progress in Molecular Biology and Translational Science
#12
JOURNAL ARTICLE
Si-Jie Dai, Yu-Ying Shao, Yang Zheng, Jin-Yi Sun, Zhi-Sheng Li, Jia-Ying Shi, Meng-Qi Yan, Xiao-Yun Qiu, Ceng-Lin Xu, Wan-Sang Cho, Masahiro Nishibori, Sihyeong Yi, Seung Bum Park, Yi Wang, Zhong Chen
Epilepsy is not well controlled by current anti-seizure drugs (ASDs). High mobility group box 1 (HMGB1) is a DNA-binding protein in the nucleus regulating transcriptional activity and maintaining chromatin structure and DNA repair. In epileptic brains, HMGB1 is released by activated glia and neurons, interacting with various receptors like Toll-like receptor 4 (TLR4) and downstream glutamatergic NMDA receptor, thus enhancing neural excitability. But there is a lack of small-molecule drugs targeting the HMGB1-related pathways...
April 19, 2023: Acta Pharmacologica Sinica
#13
JOURNAL ARTICLE
Samiksha Kukal, Shivangi Bora, Neha Kanojia, Pooja Singh, Priyanka Rani Paul, Chitra Rawat, Shakti Sagar, Naveen Kumar Bhatraju, Gurpreet Kaur Grewal, Anju Singh, Shrikant Kukreti, Kapaettu Satyamoorthy, Ritushree Kukreti
Despite the progress made in the development of new antiepileptic drugs (AEDs), poor response to them is a rising concern in epilepsy treatment. Of several hypotheses explaining AED treatment failure, the most promising theory is the overexpression of multidrug transporters belonging to ATP-binding cassette (ABC) transporter family at blood-brain barrier. Previous data show that AEDs themselves can induce these transporters, in turn affecting their own brain bioavailability. Presently, this induction and the underlying regulatory mechanism involved at human blood-brain barrier is not well elucidated...
November 22, 2022: Molecular Pharmacology
#14
JOURNAL ARTICLE
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H Zackai, Sarah E Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D Kernohan, Philippe M Campeau, Francisca Millan, Jesse A Taylor, Hanns Lochmüller, Martin R Higgs, Amalia Goula, Birgitta Bernhard, Danita J Velasco, Andrew A Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E Jakub, Jamie M Kramer, Joery den Hoed, Simon E Fisher, Han G Brunner, Tjitske Kleefstra
WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of histones. We collected data from 11 unrelated individuals with six different rare de novo germline missense variants in WDR5 ; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11), intellectual disability (n = 9), epilepsy (n = 7), and autism spectrum disorder (n = 4)...
January 12, 2023: HGG advances
#15
REVIEW
Oliver Davis
How DNA is folded and packaged in nucleosomes is an essential regulator of gene expression. Abnormal patterns of chromatin folding are implicated in a wide range of diseases and disorders, including epilepsy and autism spectrum disorder (ASD). These disorders are thought to have a shared pathogenesis involving an imbalance in the number of excitatory-inhibitory neurons formed during neurodevelopment; however, the underlying pathological mechanism behind this imbalance is poorly understood. Studies are increasingly implicating abnormal chromatin folding in neural stem cells as one of the candidate pathological mechanisms, but no review has yet attempted to summarise the knowledge in this field...
November 11, 2022: Molecular Neurobiology
#16
JOURNAL ARTICLE
Jing Yang, Jinyang Zhen, Wenli Feng, Zhenqian Fan, Li Ding, Xiaoyun Yang, Yumeng Huang, Hua Shu, Jing Xie, Xin Li, Jingting Qiao, Yuxin Fan, Jinhong Sun, Na Li, Tengli Liu, Shusen Wang, Xiaona Zhang, Peter Arvan, Ming Liu
Recessive mutations in IER3IP1 (immediate early response 3 interacting protein 1) cause a syndrome of microcephaly, epilepsy, and permanent neonatal diabetes (MEDS). IER3IP1 encodes an endoplasmic reticulum (ER) membrane protein, which is crucial for brain development; however, the role of IER3IP1 in β cells remains unknown. We have generated two mouse models with either constitutive or inducible IER3IP1 deletion in β cells, named IER3IP1-βKO and IER3IP1-iβKO, respectively. We found that IER3IP1-βKO causes severe early-onset, insulin-deficient diabetes...
November 8, 2022: Proceedings of the National Academy of Sciences of the United States of America
#17
JOURNAL ARTICLE
Denise Drongitis, Lucia Verrillo, Pasqualino De Marinis, Pasquale Orabona, Agnese Caiola, Giacinto Turitto, Alessandra Alfieri, Sara Bruscella, Marisa Gentile, Vania Moriello, Ettore Sannino, Ines Di Muccio, Valerio Costa, Maria Giuseppina Miano, Alberto de Bellis
Glioblastoma multiforme (GBM) is a fatal brain tumor without effective drug treatment. In this study, we highlight, for the first time, the contribution of chromatin remodeling gene Lysine (K)-specific demethylase 5C ( KDM5C ) in GBM via an extensive analysis of clinical, expression, and functional data, integrated with publicly available omic datasets. The expression analysis on GBM samples (N = 37) revealed two informative subtypes, namely KDM5CHigh and KDM5CLow , displaying higher/lower KDM5C levels compared to the controls...
September 6, 2022: International Journal of Molecular Sciences
#18
JOURNAL ARTICLE
Fang Wen, Qiong Zhan, Ting Zou, Zhi-Gang Tan, Jun Xiang
Objective: Epilepsy is a chronic brain disease with recurrent seizures. Autophagy plays a crucial role in the progression of epilepsy. This study aimed to explore the function and intrinsic mechanism of the long non-coding RNA (lncRNA) UCA1/miR-132-3p/ATG16L1 axis in epilepsy via regulation of autophagy. Methods: The expression of lncRNA UCA1, miR-132-3p and ATG16L1 was measured in serum from epileptic patients by quantitative RT-PCR. A SH-SY5Y cell model was further constructed using retinoic acid to investigate the UCA1/ miR-132-3p/ATG16L1 axis by quantitative RT-PCR, western blotting, fluorescence in situ hybridisation, RNA immunoprecipitation, chromatin immunoprecipitation, and a dual-luciferase reporter gene assay...
October 1, 2022: Epileptic Disorders: International Epilepsy Journal with Videotape
#19
REVIEW
Karen M J Van Loo, Gemma L Carvill, Albert J Becker, Karen Conboy, Alica M Goldman, Katja Kobow, Iscia Lopes-Cendes, Christopher A Reid, Erwin A van Vliet, David C Henshall
An increasing number of epilepsies are being attributed to variants in genes with epigenetic functions. The products of these genes include factors that regulate the structure and function of chromatin and the placing, reading and removal of epigenetic marks, as well as other epigenetic processes. In this Review, we provide an overview of the various epigenetic processes, structuring our discussion around five function-based categories: DNA methylation, histone modifications, histone-DNA crosstalk, non-coding RNAs and chromatin remodelling...
September 2022: Nature Reviews. Neurology
#20
JOURNAL ARTICLE
Fei Wang, Lianxia Guo, Zhengping Wu, Tianpeng Zhang, Dong Dong, Baojian Wu
OBJECTIVES: Temporal lobe epilepsy (TLE) is a common and intractable form of epilepsy. There is a strong need to better understand molecular events underlying TLE and to find novel therapeutic agents. Here we aimed to investigate the role of Clock and ferroptosis in regulating TLE. METHODS: TLE model was established by treating mice with kainic acid (KA). Regulatory effects of the Clock gene on KA-induced seizures and ferroptosis were evaluated using Clock knockout (Clock-/-) mice...
June 15, 2022: Journal of Pharmacy and Pharmacology
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