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Fragile-X

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https://www.readbyqxmd.com/read/27924668/parenting-of-children-with-down-syndrome-compared-to-fragile-x-syndrome
#1
Audra Sterling, Steven F Warren
Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS...
December 7, 2016: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/27916885/development-of-genetic-testing-for-fragile-x-syndrome-and-associated-disorders-and-estimates-of-the-prevalence-of-fmr1-expansion-mutations
#2
REVIEW
James N Macpherson, Anna Murray
The identification of a trinucleotide (CGG) expansion as the chief mechanism of mutation in Fragile X syndrome in 1991 heralded a new chapter in molecular diagnostic genetics and generated a new perspective on mutational mechanisms in human genetic disease, which rapidly became a central paradigm ("dynamic mutation") as more and more of the common hereditary neurodevelopmental disorders were ascribed to this novel class of mutation. The progressive expansion of a CGG repeat in the FMR1 gene from "premutation" to "full mutation" provided an explanation for the "Sherman paradox," just as similar expansion mechanisms in other genes explained the phenomenon of "anticipation" in their pathogenesis...
November 30, 2016: Genes
https://www.readbyqxmd.com/read/27916452/the-normal-range-of-fmr1-triple-cgg-repeats-may-be-associated-with-primary-ovarian-insufficiency-in-china
#3
Cui-Ling Lu, Rong Li, Xin-Na Chen, Yang-Ying Xu, Li-Ying Yan, Jie Yan, Yao-Yao Zhang, Hong-Yan Jin, Wen-Xin Zhang, Jie Qiao, Xiu-Mei Zhen
The aim of this study was to investigate the relationship between normal Fragile X mental retardation gene 1 (FMR1) CGG repeat numbers and primary ovarian insufficiency (POI) occurrence or subsequent resumption of ovarian function. A total of 122 women with POI and 105 controls were followed up and analysed in our centre. The prevalence of premutation and intermediate range of FMR1 CGG repeats in Han Chinese women with POI was only 0.81% (1/122) and 1.64% (2/122), respectively. The risk of POI occurrence for less than 26 CGG repeats and 29 or more CGG repeats in allele1 (smaller allele) was significantly higher than that for 26-28 CGG repeats (odds ratio 13...
November 15, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27911744/dysregulation-of-mrna-localization-and-translation-in-genetic-disease
#4
Eric T Wang, J Matthew Taliaferro, Ji-Ann Lee, Indulekha P Sudhakaran, Wilfried Rossoll, Christina Gross, Kathryn R Moss, Gary J Bassell
RNA-binding proteins (RBPs) acting at various steps in the post-transcriptional regulation of gene expression play crucial roles in neuronal development and synaptic plasticity. Genetic mutations affecting several RBPs and associated factors lead to diverse neurological symptoms, as characterized by neurodevelopmental and neuropsychiatric disorders, neuromuscular and neurodegenerative diseases, and can often be multisystemic diseases. We will highlight the physiological roles of a few specific proteins in molecular mechanisms of cytoplasmic mRNA regulation, and how these processes are dysregulated in genetic disease...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27904820/the-neurobiology-of-the-prader-willi-phenotype-of-fragile-x-syndrome
#5
REVIEW
Zukhrofi Muzar, Reymundo Lozano, Alexander Kolevzon, Randi J Hagerman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism, caused by a CGG expansion to greater than 200 repeats in the promoter region of FMR1 on the bottom of the X chromosome. A subgroup of individuals with FXS experience hyperphagia, lack of satiation after meals and severe obesity, this subgroup is referred to have the Prader-Willi phenotype of FXS. Prader-Willi syndrome is one of the most common genetic severe obesity disorders known and it is caused by the lack of the paternal 15q11-13 region...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27902989/plasma-levels-of-leptin-and-adiponectin-in-fragile-x-syndrome
#6
Małgorzata Zofia Lisik, Ewa Gutmajster, Aleksander L Sieroń
: Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene, resulting in the transcriptional silencing of the gene. Leptin may be considered a cytokine-like hormone with pleiotropic actions since it may be involved in the regulation of neuroendocrine functions and the immune system response, in addition to playing a role in development...
December 1, 2016: Neuroimmunomodulation
https://www.readbyqxmd.com/read/27900874/human-pluripotent-stem-cells-in-modeling-human-disorders-the-case-of-fragile-x-syndrome
#7
Dan Vershkov, Nissim Benvenisty
Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS...
November 30, 2016: Regenerative Medicine
https://www.readbyqxmd.com/read/27889578/molecular-neurobiology-of-mtor
#8
REVIEW
Katarzyna Switon, Katarzyna Kotulska, Aleksandra Janusz-Kaminska, Justyna Zmorzynska, Jacek Jaworski
Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that controls several important aspects of mammalian cell function. mTOR activity is modulated by various intra- and extracellular factors; in turn, mTOR changes rates of translation, transcription, protein degradation, cell signaling, metabolism, and cytoskeleton dynamics. mTOR has been repeatedly shown to participate in neuronal development and the proper functioning of mature neurons. Changes in mTOR activity are often observed in nervous system diseases, including genetic diseases (e...
November 23, 2016: Neuroscience
https://www.readbyqxmd.com/read/27889489/the-drug-candidate-adx71441-is-a-novel-potent-and-selective-positive-allosteric-modulator-of-the-gabab-receptor-with-a-potential-for-treatment-of-anxiety-pain-and-spasticity
#9
Mikhail Kalinichev, Françoise Girard, Hasnaà Haddouk, Mélanie Rouillier, Eric Riguet, Isabelle Royer-Urios, Vincent Mutel, Robert Lütjens, Sonia Poli
Positive allosteric modulation of the GABAB receptor is a promising alternative to direct activation of the receptor as a therapeutic approach for treatment of addiction, chronic pain, anxiety, epilepsy, autism, Fragile X syndrome, and psychosis. Here we describe in vitro and in vivo characterization of a novel, potent and selective GABAB positive allosteric modulator (PAM) N-(5-(4-(4-chloro-3-fluorobenzyl)-6-methoxy-3,5-dioxo-4,5-dihydro-1,2,4-triazin-2(3H)-yl)-2-fluorophenyl)acetamide (ADX71441). In vitro, Schild plot and reversibility tests at the target confirmed PAM properties of the compound...
November 23, 2016: Neuropharmacology
https://www.readbyqxmd.com/read/27883256/detecting-agg-interruptions-in-male-and-female-fmr1-premutation-carriers-by-single-molecule-sequencing
#10
Simon Ardui, Valerie Race, Alena Zablotskaya, Matthew S Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R Vermeesch
The FMR1 gene contains an unstable CGG repeat in its 5' untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X-associated tremor/ataxia syndrome or fragile X-associated primary ovarian insufficiency. Furthermore, the premutation allele often expands to a full mutation during female germline transmission giving rise to the fragile X syndrome. The risk for a premutation to expand depends mainly on the number of CGG units and the presence of AGG interruptions in the CGG repeat...
November 24, 2016: Human Mutation
https://www.readbyqxmd.com/read/27881780/negative-allosteric-modulation-of-mglur5-partially-corrects-pathophysiology-in-a-mouse-model-of-rett-syndrome
#11
Jifang Tao, Hao Wu, Amanda A Coronado, Elizabeth de Laittre, Emily K Osterweil, Yi Zhang, Mark F Bear
: Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2), an epigenetic regulator of mRNA transcription. Here, we report a test of the hypothesis of shared pathophysiology of RTT and fragile X, another monogenic cause of autism and intellectual disability. In fragile X, the loss of the mRNA translational repressor FMRP leads to exaggerated protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5). We found that mGluR5- and protein-synthesis-dependent synaptic plasticity were similarly altered in area CA1 of Mecp2 KO mice...
November 23, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27880953/deletion-of-top3b-is-associated-with-cognitive-impairment-and-facial-dysmorphism
#12
Carolyn S Kaufman, Ann Genovese, Merlin G Butler
Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated clinical features. Several deletions involve entirely distinct regions of chromosome 22q11 but do not overlap, suggesting that a number of different genes contribute to the clinical features...
November 24, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27865451/astrocytic-contributions-to-synaptic-and-learning-abnormalities-in-a-mouse-model-of-fragile-x-syndrome
#13
Jennifer L Hodges, Xinzhu Yu, Anthony Gilmore, Hannah Bennett, Michelle Tjia, James F Perna, Chia-Chien Chen, Xiang Li, Ju Lu, Yi Zuo
BACKGROUND: Fragile X syndrome (FXS) is the most common type of mental retardation attributable to a single-gene mutation. It is caused by FMR1 gene silencing and the consequent loss of its protein product, fragile X mental retardation protein. Fmr1 global knockout (KO) mice recapitulate many behavioral and synaptic phenotypes associated with FXS. Abundant evidence suggests that astrocytes are important contributors to neurological diseases. This study investigates astrocytic contributions to the progression of synaptic abnormalities and learning impairments associated with FXS...
September 13, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27862088/prognostic-dilemmas-and-genetic-counseling-for-prenatally-detected-fragile-x-gene-expansions
#14
Brenda Finucane, Sharyn Lincoln, Lindsay Bailey, Christa Lese Martin
With widespread adoption of fragile X carrier screening in pregnant women, the number of expectant couples receiving news of an unanticipated Fragile X Mental Retardation 1 (FMR1) gene expansion has increased. The most common abnormal result from maternal FMR1 testing involves an intermediate allele, also known as a gray zone result, which requires genetic counseling but poses minimal risk for an adverse developmental outcome. By contrast, the finding of a maternal FMR1 pre- or full mutation during pregnancy has important implications for the woman herself, her unborn child, and her extended family...
November 11, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27860518/molecular-dynamics-of-fmrp-and-other-rna-binding-proteins-in-meg-01-differentiation-the-role-of-mrnp-complexes-in-non-neuronal-development
#15
M McCoy, D Poliquin-Duchesneau, F Corbin
Asymmetrically differentiating cells are formed with the aid of RNA-binding proteins (RBPs), which can bind, stabilize, regulate, and transport target mRNAs. The loss of RBPs in neurons may lead to severe neurodevelopmental diseases such as the Fragile X Syndrome with the absence of the Fragile X Mental Retardation Protein (FMRP). Because the latter is ubiquitous and shares many similarities with other RBPs involved in the development of peripheral cells, we suggest that FMRP would have a role in the differentiation of all tissues where it is expressed...
December 2016: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/27860226/new-fragile-x-tests-may-improve-research-on-the-disorder-tests-ability-to-provide-detailed-information-about-genetic-mutations-and-lower-cost-raise-hope-for-clinical-use-and-newborn-screening
#16
(no author information available yet)
No abstract text is available yet for this article.
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27856639/the-atypical-dual-specificity-phosphatase-hyvh1-associates-with-multiple-ribonucleoprotein-particles
#17
Qiudi Geng, Besa Xhabija, Colleen Knuckle, Christopher A Bonham, Panayiotis O Vacratsis
Human YVH1 (hYVH1), also known as dual specificity phosphatase 12 (DUSP12) is a poorly characterized atypical dual specificity phosphatase widely conserved throughout evolution. Recent findings have demonstrated that hYVH1 expression affects cellular DNA content and is a novel cell survival phosphatase preventing both thermal and oxidative stress induced cell death, while studies in yeast have established YVH1 as a novel 60S ribosome biogenesis factor. In this study, we have isolated novel hYVH1 associating proteins from human U2OS osteosarcoma cells using affinity chromatography coupled to mass spectrometry employing ion mobility separation...
November 17, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27855743/fragile-x-and-obstructive-sleep-apnea-syndrome-case-presentation-and-management-challenges
#18
Courtney Curran, Swarnalata Debbarma, Karim Sedky
A high prevalence of obstructive sleep apnea (OSA) has been reported in individuals with fragile X syndrome (FXS). Untreated OSA can further complicate both medical and cognitive sequel. Thus, identifying the diagnostic and treatment challenges that arise in these individuals is essential. We describe an adolescent with FXS who presented with significant OSA symptoms, and the challenges associated with management in this case.
November 14, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27852784/activity-induces-fmr1-sensitive-synaptic-capture-of-anterograde-circulating-neuropeptide-vesicles
#19
Samantha L Cavolo, Dinara Bulgari, David L Deitcher, Edwin S Levitan
: Synaptic neuropeptide and neurotrophin stores are maintained by constitutive bidirectional capture of dense-core vesicles (DCVs) as they circulate in and out of the nerve terminal. Activity increases DCV capture to rapidly replenish synaptic neuropeptide stores following release. However, it is not known whether this is due to enhanced bidirectional capture. Here experiments at the Drosophila neuromuscular junction, where DCVs contain neuropeptides and a bone morphogenic protein, show that activity-dependent replenishment of synaptic neuropeptides following release is evident after inhibiting the retrograde transport with the dynactin disruptor mycalolide B or photobleaching DCVs entering a synaptic bouton by retrograde transport...
November 16, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27829268/altered-translational-control-of-fmrp-on-myelin-proteins-in-neuropsychiatric-disorders
#20
REVIEW
Se Jin Jeon, Jong Hoon Ryu, Geon Ho Bahn
Myelin is a specialized structure of the nervous system that both enhances electrical conductance and insulates neurons from external risk factors. In the central nervous system, polarized oligodendrocytes form myelin by wrapping processes in a spiral pattern around neuronal axons through myelin-related gene regulation. Since these events occur at a distance from the cell body, post-transcriptional control of gene expression has strategic advantage to fine-tune the overall regulation of protein contents in situ...
November 8, 2016: Biomolecules & Therapeutics
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