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https://www.readbyqxmd.com/read/29778627/impaired-spatial-processing-in-a-mouse-model-of-fragile-x-syndrome
#1
Mohamed Ghilan, Luis Bettio, Athena Noonan, Patricia S Brocardo, Joana Gil-Mohapel, Brian R Christie
Fragile X syndrome (FXS) is the most common form of inherited intellectual impairment. The Fmr1-/y mouse model has been previously shown to have deficits in context discrimination tasks but not in the elevated plus-maze. To further characterize this FXS mouse model and determine whether hippocampal-mediated behaviours are affected in these mice, dentate gyrus (DG)-dependent spatial processing and Cornu Ammonis 1 (CA1)-dependent temporal order discrimination tasks were evaluated. In agreement with previous findings of long-term potentiation deficits in the DG of this transgenic model of FXS, the results reported here demonstrate that Fmr1-/y mice perform poorly in the DG-dependent metric change spatial processing task...
May 17, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#2
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29771335/loss-of-fragile-x-protein-fmrp-impairs-homeostatic-synaptic-downscaling-through-tumor-suppressor-p53-and-ubiquitin-e3-ligase-nedd4-2
#3
Kwan Young Lee, Kathryn A Jewett, Hee Jung Chung, Nien-Pei Tsai
Synaptic scaling allows neurons to homeostatically readjust synaptic strength upon chronic neural activity perturbations. Although altered synaptic scaling has been implicated to underlie imbalanced brain excitability in neurological disorders such as autism spectrum disorders and epilepsy, the molecular dysregulation and restoration of synaptic scaling in those diseases have not been demonstrated. Here, we showed that the homeostatic synaptic downscaling is absent in the hippocampal neurons of Fmr1 KO mice, the mouse model of the most common inherited autism, Fragile X Syndrome (FXS)...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29766042/bc-rna-mislocalization-in-the-fragile-x-premutation
#4
Ilham A Muslimov, Taesun Eom, Anna Iacoangeli, Shih-Chieh Chuang, Renate K Hukema, Rob Willemsen, Dimitre G Stefanov, Robert K S Wong, Henri Tiedge
Fragile X premutation disorder is caused by CGG triplet repeat expansions in the 5' untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate. Our work indicates that CGG-repeat structures compete with regulatory BC1 RNA for access to RNA transport factor hnRNP A2. As a result, BC1 RNA is mislocalized in vivo, as its synapto-dendritic presence is severely diminished in brains of CGG-repeat knock-in animals (a premutation mouse model). Lack of BC1 RNA is known to cause seizure activity and cognitive dysfunction...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29760651/human-dna-helicase-b-as-a-candidate-for-unwinding-secondary-cgg-repeat-structures-at-the-fragile-x-mental-retardation-gene
#5
Gulfem D Guler, Zev Rosenwaks, Jeannine Gerhardt
The fragile X syndrome (FXS) is caused by a CGG repeat expansion at the fragile X mental retardation ( FMR1 ) gene. FMR1 alleles with more than 200 CGG repeats bear chromosomal fragility when cells experience folate deficiency. CGG repeats were reported to be able to form secondary structures, such as hairpins, in vitro . When such secondary structures are formed, repeats can lead to replication fork stalling even in the absence of any additional perturbation. Indeed, it was recently shown that the replication forks stall at the endogenous FMR1 locus in unaffected and FXS cells, suggesting the formation of secondary repeat structures at the FMR1 gene in vivo ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29760218/validation-of-an-expanded-carrier-screen-that-optimizes-sensitivity-via-full-exon-sequencing-and-panel-wide-copy-number-variant-identification
#6
Gregory J Hogan, Valentina S Vysotskaia, Kyle A Beauchamp, Stefanie Seisenberger, Peter V Grauman, Kevin R Haas, Sun Hae Hong, Diana Jeon, Shera Kash, Henry H Lai, Laura M Melroy, Mark R Theilmann, Clement S Chu, Kevin Iori, Jared R Maguire, Eric A Evans, Imran S Haque, Rebecca Mar-Heyming, Hyunseok P Kang, Dale Muzzey
BACKGROUND: By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the number of conditions tested, the prevalence of the respective diseases, and the screen's analytical sensitivity for identifying disease-causing variants. Disease-level analytical sensitivity is often <100% in ECS tests because copy number variants (CNVs) are typically not interrogated because of their technical complexity...
May 14, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29747568/classical-fragile-x-phenotype-in-a-female-infant-disclosed-by-comprehensive-genomic-studies
#7
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history...
May 10, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29734272/general-anesthetic-use-in-fragile-x-spectrum-disorders
#8
Andrew Ligsay, Marwa El-Deeb, Maria J Salcedo-Arellano, Nina Schloemerkemper, Jeremy S Grayson, Randi Hagerman
The fragile X premutation is characterized by a repeat expansion mutation (between 55 to 200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene, which leads to RNA toxicity at the cellular level. This may cause patients with the premutation to be particularly susceptible to environmental toxins, which could manifest clinically as new or worsening ataxia and memory loss. Multiple published case reports have also suggested general anesthetics as a potential toxin leading to negative side effects when used in patients with fragile X- associated disorders...
May 4, 2018: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/29713264/modeling-fragile-x-syndrome-in-drosophila
#9
REVIEW
Małgorzata Drozd, Barbara Bardoni, Maria Capovilla
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 ( FMR1 ) encoding the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in RNA metabolism and modulating the expression level of many targets. Most cases of FXS are caused by silencing of FMR1 due to CGG expansions in the 5'-UTR of the gene. Humans also carry the FXR1 and FXR2 paralogs of FMR1 while flies have only one FMR1 gene, here called dFMR1 , sharing the same level of sequence homology with all three human genes, but functionally most similar to FMR1 ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29703945/critical-period-inhibition-of-nkcc1-rectifies-synapse-plasticity-in-the-somatosensory-cortex-and-restores-adult-tactile-response-maps-in-fragile-x-mice
#10
Qionger He, Erica D Arroyo, Samuel N Smukowski, Jian Xu, Claire Piochon, Jeffrey N Savas, Carlos Portera-Cailliau, Anis Contractor
Sensory perturbations in visual, auditory and tactile perception are core problems in fragile X syndrome (FXS). In the Fmr1 knockout mouse model of FXS, the maturation of synapses and circuits during critical period (CP) development in the somatosensory cortex is delayed, but it is unclear how this contributes to altered tactile sensory processing in the mature CNS. Here we demonstrate that inhibiting the juvenile chloride co-transporter NKCC1, which contributes to altered chloride homeostasis in developing cortical neurons of FXS mice, rectifies the chloride imbalance in layer IV somatosensory cortex neurons and corrects the development of thalamocortical excitatory synapses during the CP...
April 27, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29688643/-fmr1-premutation-carriers-are-they-really-asymptomatic
#11
REVIEW
Shai Elizur, Michal Berkenstadt, Liat Ries-Levavi, Noah Gruber, Orit Pinhas-Hamiel, Sharon Hassin-Baer, Annick Raas-Rothschild, Hila Raanani, Tali Cukierman-Yaffe, Raoul Orvieto, Yoram Cohen, Lidia Gabis
Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5'-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at Xq27.3. Patients with fragile X -related mental retardation, carry the full mutation CGG-repeat expansions (>200 CGG repeats), which are generally accompanied by hypermethylation of the promoter region, with the consequent transcriptional silencing of the FMR1 gene and absence of the encoded FMR1 protein (FMRP)...
April 2018: Harefuah
https://www.readbyqxmd.com/read/29681800/early-retinal-defects-in-fmr1-y-mice-toward-a-critical-role-of-visual-dys-sensitivity-in-the-fragile-x-syndrome-phenotype
#12
Olivier Perche, Chloé Felgerolle, Maryvonne Ardourel, Audrey Bazinet, Arnaud Pâris, Rafaëlle Rossignol, Géraldine Meyer-Dilhet, Anne-Laure Mausset-Bonnefont, Betty Hébert, David Laurenceau, Céline Montécot-Dubourg, Arnaud Menuet, Jean-Charles Bizot, Jacques Pichon, Isabelle Ranchon-Cole, Sylvain Briault
Fragile X Syndrome (FXS) is caused by a deficiency in Fragile X Mental Retardation Protein (FMRP) leading to global sensorial abnormalities, among which visual defects represent a critical part. These visual defects are associated with cerebral neuron immaturity especially in the primary visual cortex. However, we recently demonstrated that retinas of adult Fmr1 -/y mice, the FXS murine model, present molecular, cellular and functional alterations. However, no data are currently available on the evolution pattern of such defects...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29655674/analysis-of-microrna-expression-in-the-thymus-of-myasthenia-gravis-patients-opens-new-research-avenues
#13
REVIEW
Mélanie A Cron, Solène Maillard, Fabien Delisle, Nolwenn Samson, Frédérique Truffault, Maria Foti, Elie Fadel, Julien Guihaire, Sonia Berrih-Aknin, Rozen Le Panse
In early-onset Myasthenia Gravis (MG) with anti-acetylcholine receptor antibodies, thymic abnormalities associated with ectopic germinal centers are frequent. miRNAs by acting as post-transcriptional regulators are involved in autoimmunity. To investigate the implication of miRNAs in thymic changes associated with early-onset MG, we performed a miRnome study and data were analyzed with different approaches. miRNAs of interest were further investigated by RT-PCR and transfection experiments for functional tests...
June 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29605426/translation-relevant-eeg-phenotypes-in-a-mouse-model-of-fragile-x-syndrome
#14
Jonathan W Lovelace, Iryna M Ethell, Devin K Binder, Khaleel A Razak
Identification of comparable biomarkers in humans and validated animal models will facilitate pre-clinical to clinical therapeutic pipelines to treat neurodevelopmental disorders. Fragile X Syndrome (FXS) is a leading known genetic cause of intellectual disability with symptoms that include increased anxiety, social and sensory processing deficits. Recent EEG studies in humans with FXS have identified neural oscillation deficits that include enhanced resting state gamma power and reduced inter-trial coherence of sound evoked gamma oscillations...
March 29, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29604051/clinical-implication-of-fmr1-intermediate-alleles-in-a-spanish-population
#15
M I Alvarez-Mora, I Madrigal, F Martinez, M I Tejada, S Izquierdo-Alvarez, P S-V de Saz, A Caro-Llopis, O Villate, B Rodríguez-Santiago, L A Pérez-Jurado, L Rodriguez-Revenga, M Milà
FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear...
March 31, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29603880/fmr1-premutation-frequency-in-a-large-ethnically-diverse-population-referred-for-carrier-testing
#16
Kailey M Owens, Lindsay Dohany, Carol Holland, Jeana DaRe, Tobias Mann, Christina Settler, Ryan E Longman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is caused by an expansion of cytosine-guanine-guanine (CGG) repeats in the FMR1 gene. Female premutation allele carriers (55-200 CGG repeats) are at risk to have an affected child. Currently, specific population-based carrier screening for FXS is not recommended. Previous studies exploring female premutation carrier frequency have been limited by size or ethnicity. This retrospective study provides a pan-ethnic estimate of the Fragile X premutation carrier frequency in a large, ethnically diverse population of women referred for routine carrier screening during a specified time period at Progenity, Inc...
March 31, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29599705/of-men-and-mice-modeling-the-fragile-x-syndrome
#17
Regina Dahlhaus
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1 , FXS is characterized by a variety of symptoms, which range from mental disabilities to autism and epilepsy. More than 20 years ago, a first animal model was described, the Fmr1 knock-out mouse. Several other models have been developed since then, including conditional knock-out mice, knock-out rats, a zebrafish and a drosophila model...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29595813/fmr1-allele-size-distribution-in-35-000-males-and-females-a-comparison-of-developmental-delay-and-general-population-cohorts
#18
Claudine M Kraan, Quang M Bui, Mike Field, Alison D Archibald, Sylvia A Metcalfe, Louise M Christie, Bruce H Bennetts, Ralph Oertel, Melanie J Smith, Desiree du Sart, Damien Bruno, Tiffany L Wotton, David J Amor, David Francis, David E Godler
PurposeDevelopmental delay phenotypes have been associated with FMR1 premutation (PM: 55-200 CGG repeats) and "gray zone" (GZ: 45-54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatric diagnostic or screening settings.MethodsThis study determined the prevalence of PM and GZ alleles in two independent cohorts of 19,076 pediatric referrals to developmental delay diagnostic testing through Victorian Clinical Genetics Service (cohort 1: N = 10,235; cohort 2: N = 8841), compared with two independent general population cohorts (newborn screening N = 1997; carrier screening by the Victorian Clinical Genetics Service prepair program N = 14,249)...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29590342/protein-synthesis-levels-are-increased-in-a-subset-of-individuals-with-fragile-x-syndrome
#19
Sébastien Jacquemont, Laura Pacini, Aia E Jønch, Giulia Cencelli, Izabela Rozenberg, Yunsheng He, Laura D'Andrea, Giorgia Pedini, Marwa Eldeeb, Rob Willemsen, Fabrizio Gasparini, Flora Tassone, Randi Hagerman, Baltazar Gomez-Mancilla, Claudia Bagni
Fragile X syndrome (FXS) is a monogenic form of intellectual disability and autism spectrum disorder caused by the absence of the fragile X mental retardation protein (FMRP). In biological models for the disease, this leads to upregulated mRNA translation and as a consequence, deficits in synaptic architecture and plasticity. Preclinical studies revealed that pharmacological interventions restore those deficits, which are thought to mediate the FXS cognitive and behavioral symptoms. Here we characterized the de novo rate of protein synthesis in patients with FXS and their relationship with clinical severity...
March 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29534591/low-expression-of-cyfip1-may-be-a-potential-biomarker-in-nasopharyngeal-carcinoma
#20
X Shi, X Chen, W C Li, L J Mo, Z Y Lin, Y Y Li, Z Yang, W N Mo
Cytoplasmic FMR1 interacting protein 1 (Cyfip1) is a new candidate tumor suppressor gene, which may play an impor- tant role in the occurrence and development of cancers. However, the role of Cyfip1 in nasopharyngeal carcinoma (NPC) remains poorly known. The aim of this study was to investigate the Cyfip1 mRNA expression in NPC and its association with clinicopathological features. The study population comprised 114 Chinese individuals, including 69 NPC tissues and 45 non-cancerous nasopharyngeal tissues. We used real-time fluorescent relatively quantitative PCR to evaluate the Cyfip1 mRNA expression in NPC tissues and non-cancerous nasopharyngeal tissues...
2018: Neoplasma
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