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https://www.readbyqxmd.com/read/28640668/absence-of-the-fragile-x-mental-retardation-protein-results-in-defects-of-rna-editing-of-neuronal-mrnas-in-mouse
#1
Alice Filippini, Daniela Bonini, Caroline Lacoux, Laura Pacini, Maria Zingariello, Laura Sancillo, Daniela Bosisio, Valentina Salvi, Jessica Mingardi, Luca La Via, Francesca Zalfa, Claudia Bagni, Alessandro Barbon
The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism. Recently, an unexpected function of FMRP in modulating the activity of Adenosine Deaminase Acting on RNA (ADAR) enzymes has been reported both in Drosophila and Zebrafish. ADARs are RNA-binding proteins that increase transcriptional complexity through a post-transcriptional mechanism called RNA editing. In order to evaluate the ADAR2-FMRP interaction in mammals we analysed several RNA editing re-coding sites in the fmr1 knockout (KO) mice...
June 22, 2017: RNA Biology
https://www.readbyqxmd.com/read/28621425/epigenetic-mechanism-of-fmr1-inactivation-in-fragile-x-syndrome
#2
Merav Hecht, Amalia Tabib, Tamar Kahan, Shari Orlanski, Michal Gropp, Yuval Tabach, Ofra Yanuka, Nissim Benvenisty, Ilana Keshet, Howard Cedar
Fragile X syndrome is the most frequent cause of inherited intellectual disability. The primary molecular defect in this disease is the expansion of a CGG repeat in the 5' region of the fragile X mental retardation1 (FMR1) gene, leading to de novo methylation of the promoter and inactivation of this otherwise normal gene, but little is known about how these epigenetic changes occur during development. In order to gain insight into the nature of this process, we have used cell fusion technology to recapitulate the events that occur during early embryogenesis...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28617938/fragile-x-syndrome-an-overview-and-update-of-the-fmr1-gene
#3
REVIEW
Montserrat Mila, Maria Isabel Alvarez-Mora, Irene Madrigal, Laia Rodriguez-Revenga
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and the leading form of the monogenic cause of autism. FMR1 premutation is the first single-gene cause of primary ovarian failure (FXPOI) and one of the most common causes of ataxia (FXTAS), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described. Clinical involvement in men and women carrying the FMR1 premutation currently constitutes a real health problem in the society that should be taken into account...
June 15, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28616095/acamprosate-in-a-mouse-model-of-fragile-x-syndrome-modulation-of-spontaneous-cortical-activity-erk1-2-activation-locomotor-behavior-and-anxiety
#4
Tori L Schaefer, Matthew H Davenport, Lindsay M Grainger, Chandler K Robinson, Anthony T Earnheart, Melinda S Stegman, Anna L Lang, Amy A Ashworth, Gemma Molinaro, Kimberly M Huber, Craig A Erickson
BACKGROUND: Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (FMR1) and subsequent loss of fragile X mental retardation protein (FMRP) expression. Loss of FMRP alters excitatory/inhibitory signaling balance, leading to increased neuronal hyperexcitability and altered behavior. Acamprosate (the calcium salt of N-acetylhomotaurinate), a drug FDA-approved for relapse prevention in the treatment of alcohol dependence in adults, is a novel agent with multiple mechanisms that may be beneficial for people with FXS...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28611553/a-female-patient-with-fmr1-premutation-and-mosaic-x-chromosome-aneuploidy-and-two-sons-with-intellectual-disability
#5
Ekaterina M Galanina, Andrey A Tulupov, Natalya A Lemskaya, Aleksandra M Korostyshevskaya, Yuliya V Maksimova, Asia R Shorina, Andrey A Savelov, Irina G Sergeeva, Evgeniya R Isanova, Irina V Grishchenko, Dmitry V Yudkin
In this report, we describe a molecular cytogenetic study of a family burdened with intellectual disability (ID) and suicide. Our study revealed that the mother has a heterozygous premutation in the FMR1 gene and supernumerary X chromosomes as well as X-derived marker chromosomes. Both of her sons have ID and a normal chromosome number. One of the sons has fragile X syndrome, and the other has ID of an unclear nature.
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28607173/tactile-defensiveness-and-impaired-adaptation-of-neuronal-activity-in-the-fmr1-knockout-mouse-model-of-autism
#6
Cynthia X He, Daniel A Cantu, Shilpa S Mantri, William A Zeiger, Anubhuti Goel, Carlos Portera-Cailliau
Sensory hypersensitivity is a common symptom in autism spectrum disorders (ASDs), including Fragile X Syndrome (FXS), and frequently leads to tactile defensiveness. In mouse models of ASDs, there is mounting evidence of neuronal and circuit hyperexcitability in several brain regions, which could contribute to sensory hypersensitivity. However, it is not yet known whether or how sensory stimulation might trigger abnormal sensory processing at the circuit level or abnormal behavioral responses in ASD mouse models, especially during an early developmental time when experience-dependent plasticity shapes such circuits...
June 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28596820/neural-synchronization-deficits-linked-to-cortical-hyper-excitability-and-auditory-hypersensitivity-in-fragile-x-syndrome
#7
Lauren E Ethridge, Stormi P White, Matthew W Mosconi, Jun Wang, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Studies in the fmr1 KO mouse demonstrate hyper-excitability and increased high-frequency neuronal activity in sensory cortex. These abnormalities may contribute to prominent and distressing sensory hypersensitivities in patients with fragile X syndrome (FXS). The current study investigated functional properties of auditory cortex using a sensory entrainment task in FXS. METHODS: EEG recordings were obtained from 17 adolescents and adults with FXS and 17 age- and sex-matched healthy controls...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28590057/behavioral-abnormalities-in-the-fmr1-ko2-mouse-model-of-fragile-x-syndrome-the-relevance-of-early-life-phases
#8
Julie Gaudissard, Melanie Ginger, Marika Premoli, Maurizio Memo, Andreas Frick, Susanna Pietropaolo
Fragile X syndrome (FXS) is a developmental disorder caused by a mutation in the X-linked FMR1 gene, coding for the FMRP protein which is largely involved in synaptic function. FXS patients present several behavioral abnormalities, including hyperactivity, anxiety, sensory hyper-responsiveness, and cognitive deficits. Autistic symptoms, e.g., altered social interaction and communication, are also often observed: FXS is indeed the most common monogenic cause of autism. Mouse models of FXS are therefore of great interest for research on both FXS and autistic pathologies...
June 7, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28584888/autism-spectrum-disorder-neuropathology-and-animal-models
#9
REVIEW
Merina Varghese, Neha Keshav, Sarah Jacot-Descombes, Tahia Warda, Bridget Wicinski, Dara L Dickstein, Hala Harony-Nicolas, Silvia De Rubeis, Elodie Drapeau, Joseph D Buxbaum, Patrick R Hof
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the most heritable of psychiatric disorders. An increase in the incidence of ASD cases has prompted a surge in research efforts on the underlying neuropathologic processes. We present an overview of current findings in neuropathology studies of ASD using two investigational approaches, postmortem human brains and ASD animal models, and discuss the overlap, limitations, and significance of each...
June 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28572606/automated-screening-for-fragile-x-premutation-carriers-based-on-linguistic-and-cognitive-computational-phenotypes
#10
Arezoo Movaghar, Marsha Mailick, Audra Sterling, Jan Greenberg, Krishanu Saha
Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed. Despite the high prevalence of the FX premutation and its effect on public health and family planning, most FX premutation carriers are unaware of their condition. Since genetic testing for the premutation is resource intensive, it is not practical to screen individuals for FX premutation status using genetic testing...
June 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28552599/spectral-and-temporal-properties-of-calls-reveal-deficits-in-ultrasonic-vocalizations-of-adult-fmr1-knockout-mice
#11
Samantha L Hodges, Suzanne O Nolan, Conner D Reynolds, Joaquin N Lugo
The Fmr1 knockout (KO) mouse has commonly been used to investigate communication impairments, one of the key diagnostic symptoms observed in Fragile X syndrome (FXS) and Autism spectrum disorder (ASD). Many studies have found alterations in ultrasonic vocalizations (USVs) in neonatal Fmr1 KO mice, however, there is limited research investigating whether these deficits continue into adulthood. In the present study, we examine differences in female urine-induced ultrasonic vocalizations, scent marking behavior, odor discrimination, and open field activity in adult male Fmr1 KO and wildtype (WT) mice...
May 26, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28541473/relationship-between-synaptic-ampar-and-spine-dynamics-impairments-in-the-fxs-mouse
#12
Anand Suresh, Anna Dunaevsky
Structural dynamics of dendritic spines are important for memory and learning and are impaired in neurodevelopmental disorders such as fragile X syndrome. Spine dynamics are regulated by activity-dependent mechanisms that involve modulation of AMPA receptors (AMPAR); however, the relationship between AMPAR and spine dynamics in vivo and how these are altered in FXS mouse model is not known. Here, we tracked AMPAR and spines over multiple days in vivo in the cortex and found that dendritic spines in the fmr1 KO mouse were denser, smaller, had higher turnover rates and contained less sGluA2 compared to littermate controls...
May 24, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28534217/autism-spectrum-disorder-associated-genes-and-the-development-of-dentate-granule-cells
#13
REVIEW
Hidenori Ito, Rika Morishita, Koh-Ichi Nagata
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe clinical symptoms such as the deficiency of the social communication, repetitive and stereotyped behaviors, and restricted interests. Although complex genetic and environmental factors are thought to contribute to the development of ASD, the precise etiologies are largely unknown. Neuroanatomical observations have been made of developmental abnormalities in different brain regions, including dentate gyrus of hippocampus, which is widely accepted as the center for learning and memory...
May 22, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28533625/beneficial-effect-of-interventional-exercise-on-autistic-fragile-x-syndrome
#14
REVIEW
Seunghoon Lee, Jinyoung Won, Sookyoung Park, Sang-Rae Lee, Kyu-Tae Chang, Joo-Heon Kim, Yonggeun Hong
[Purpose] The purpose of the present review is to discuss recent published articles in the understanding of efficacy of interventional exercise on autistic Fragile X syndrome (FXS) with special emphasis on its significance in clinical application in patients. [Methods] This review article was identified scientifically and/or clinically relevant articles from PubMed that directly/indirectly met the inclusion criteria. [Results] Mutation of fragile X mental retardation 1 (fmr1) gene on the X chromosome is related with loss of fragile X mental retardation protein (FMRP) that affecting physiological and behavioral abnormalities...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28529475/fragile-x-associated-tremor-ataxia-syndrome-from-molecular-pathogenesis-to-development-of-therapeutics
#15
REVIEW
Ha Eun Kong, Juan Zhao, Shunliang Xu, Peng Jin, Yan Jin
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a premutation CGG repeat expansion (55-200 repeats) within the 5' UTR of the fragile X gene (FMR1). FXTAS is characterized by intension tremor, cerebellar ataxia, progressive neurodegeneration, parkinsonism and cognitive decline. The development of transgenic mouse and Drosophila melanogaster models carrying an expanded CGG repeat has yielded valuable insight into the pathophysiology of FXTAS. To date, we know of two main molecular mechanisms of this disorder: (1) a toxic gain of function of the expanded CGG-repeat FMR1 mRNA, which results in the binding/sequestration of the CGG-binding proteins; and (2) CGG repeat-associated non-AUG-initiated (RAN) translation, which generates a polyglycine peptide toxic to cells...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28509881/dfmr1-plays-roles-in-small-rna-pathways-of-drosophila-melanogaster
#16
REVIEW
Valeria Specchia, Simona D'Attis, Antonietta Puricella, Maria Pia Bozzetti
Fragile-X syndrome is the most common form of inherited mental retardation accompanied by other phenotypes, including macroorchidism. The disorder originates with mutations in the Fmr1 gene coding for the FMRP protein, which, with its paralogs FXR1 and FXR2, constitute a well-conserved family of RNA-binding proteins. Drosophila melanogaster is a good model for the syndrome because it has a unique fragile X-related gene: dFmr1. Recently, in addition to its confirmed role in the miRNA pathway, a function for dFmr1 in the piRNA pathway, operating in Drosophila gonads, has been established...
May 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28504725/metformin-ameliorates-core-deficits-in-a-mouse-model-of-fragile-x-syndrome
#17
Ilse Gantois, Arkady Khoutorsky, Jelena Popic, Argel Aguilar-Valles, Erika Freemantle, Ruifeng Cao, Vijendra Sharma, Tine Pooters, Anmol Nagpal, Agnieszka Skalecka, Vinh T Truong, Shane Wiebe, Isabelle A Groves, Seyed Mehdi Jafarnejad, Clément Chapat, Elizabeth A McCullagh, Karine Gamache, Karim Nader, Jean-Claude Lacaille, Christos G Gkogkas, Nahum Sonenberg
Fragile X syndrome (FXS) is the leading monogenic cause of autism spectrum disorders (ASD). Trinucleotide repeat expansions in FMR1 abolish FMRP expression, leading to hyperactivation of ERK and mTOR signaling upstream of mRNA translation. Here we show that metformin, the most widely used drug for type 2 diabetes, rescues core phenotypes in Fmr1(-/y) mice and selectively normalizes ERK signaling, eIF4E phosphorylation and the expression of MMP-9. Thus, metformin is a potential FXS therapeutic.
June 2017: Nature Medicine
https://www.readbyqxmd.com/read/28499489/neuronal-pas-domain-proteins-1-and-3-are-master-regulators-of-neuropsychiatric-risk-genes
#18
Jacob J Michaelson, Min-Kyoo Shin, Jin-Young Koh, Leo Brueggeman, Angela Zhang, Aaron Katzman, Latisha McDaniel, Mimi Fang, Miles Pufall, Andrew A Pieper
BACKGROUND: NPAS3 has been established as a robust genetic risk factor in major mental illness. In mice, loss of neuronal PAS domain protein 3 (NPAS3) impairs postnatal hippocampal neurogenesis, while loss of the related protein NPAS1 promotes it. These and other findings suggest a critical role for NPAS proteins in neuropsychiatric functioning, prompting interest in the molecular pathways under their control. METHODS: We used RNA sequencing coupled with chromatin immunoprecipitation sequencing to identify genes directly regulated by NPAS1 and NPAS3 in the hippocampus of wild-type, Npas1(-/-), and Npas3(-/-) mice...
April 6, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28484016/social-propinquity-in-rodents-as-measured-by-tube-cooccupancy-differs-between-inbred-and-outbred-genotypes
#19
Alexander H Tuttle, Shannon Tansley, Kimberly Dossett, Sarasa Tohyama, Arkady Khoutorsky, Sioui Maldonado-Bouchard, Liane Stein, Lindsey Gerstein, Hayley Crawhall-Duk, Rebecca Pearl, Melissa Sukosd, Philip Leger, Oliver M Hardt, David Yachnin, Jean-Sebastien Austin, Claire M Chan, Tine Pooters, Isabelle Groves, Loren J Martin, Nahum Sonenberg, Christos G Gkogkas, Jeffrey S Mogil
Existing assays of social interaction are suboptimal, and none measures propinquity, the tendency of rodents to maintain close physical proximity. These assays are ubiquitously performed using inbred mouse strains and mutations placed on inbred genetic backgrounds. We developed the automatable tube cooccupancy test (TCOT) based on propinquity, the tendency of freely mobile rodents to maintain close physical proximity, and assessed TCOT behavior on a variety of genotypes and social and environmental conditions...
May 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28476762/white-matter-microstructure-cognition-and-molecular-markers-in-fragile-x-premutation-females
#20
Annie L Shelton, Kim M Cornish, David Godler, Quang Minh Bui, Scott Kolbe, Joanne Fielding
OBJECTIVE: To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM; 55-199 CGG repeats) and controls (CGG < 44). METHODS: Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22 and 54 years of age completed this study. FMR1 mRNA and methylation levels for 9 CpG sites within the FMR1 exon 1/intron 1 boundary from peripheral blood samples were analyzed...
May 30, 2017: Neurology
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