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https://www.readbyqxmd.com/read/28888471/altered-expression-of-the-fmr1-splicing-variants-landscape-in-premutation-carriers
#1
Elizabeth Tseng, Hiu-Tung Tang, Reem Rafik AlOlaby, Luke Hickey, Flora Tassone
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. In addition, 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in FMR1 mRNA levels have been observed with premutation alleles resulting in RNA toxicity, the leading molecular mechanism proposed for the FMR1 associated disorders observed in premutation carriers...
September 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28866801/recent-advances-in-assays-for-the-fragile-x-related-disorders
#2
REVIEW
Bruce E Hayward, Daman Kumari, Karen Usdin
The fragile X-related disorders are a group of three clinical conditions resulting from the instability of a CGG-repeat tract at the 5' end of the FMR1 transcript. Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats. Female carriers of these premutation (PM) alleles are also at risk of having a child who has an FMR1 allele with >200 repeats. Most of these full mutation (FM) alleles are epigenetically silenced resulting in a deficit of the FMR1 gene product, FMRP...
September 2, 2017: Human Genetics
https://www.readbyqxmd.com/read/28857524/concomitant-occurrence-of-fxtas-and-clinically-defined-sporadic-inclusion-body-myositis-report-of-two-cases
#3
Mirna Lechpammer, Verónica Martínez Cerdeńo, Michael Ryan Hunsaker, Mina Hah, Hilary Gonzales, Steve Tisch, Ronald Joffe, Roger Pamphlett, Flora Tassone, Paul J Hagerman, Samuel J Bolitho, Randi J Hagerman
This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described...
August 31, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28827356/tracking-the-insulator-to-metal-phase-transition-in-vo2-with-few-femtosecond-extreme-uv-transient-absorption-spectroscopy
#4
Marieke F Jager, Christian Ott, Peter M Kraus, Christopher J Kaplan, Winston Pouse, Robert E Marvel, Richard F Haglund, Daniel M Neumark, Stephen R Leone
Coulomb correlations can manifest in exotic properties in solids, but how these properties can be accessed and ultimately manipulated in real time is not well understood. The insulator-to-metal phase transition in vanadium dioxide (VO2) is a canonical example of such correlations. Here, few-femtosecond extreme UV transient absorption spectroscopy (FXTAS) at the vanadium M2,3 edge is used to track the insulator-to-metal phase transition in VO2 This technique allows observation of the bulk material in real time, follows the photoexcitation process in both the insulating and metallic phases, probes the subsequent relaxation in the metallic phase, and measures the phase-transition dynamics in the insulating phase...
August 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28707277/open-label-allopregnanolone-treatment-of-men-with-fragile-x-associated-tremor-ataxia-syndrome
#5
J Y Wang, A M Trivedi, N R Carrillo, J Yang, A Schneider, C Giulivi, P Adams, F Tassone, K Kim, S M Rivera, N Lubarr, C-Y Wu, R W Irwin, R D Brinton, J M Olichney, M A Rogawski, R J Hagerman
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 premutation over the age of 50 years. Currently, no effective treatment is available. We performed an open-label intervention study to assess whether allopregnanolone, a neurosteroid promoting regeneration and repair, can improve clinical symptoms, brain activity, and magnetic resonance imaging (MRI) measurements in patients with FXTAS. Six patients underwent weekly intravenous infusions of allopregnanolone (2-6 mg over 30 min) for 12 weeks...
July 13, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28617938/fragile-x-syndrome-an-overview-and-update-of-the-fmr1-gene
#6
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/28529475/fragile-x-associated-tremor-ataxia-syndrome-from-molecular-pathogenesis-to-development-of-therapeutics
#7
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/28476762/white-matter-microstructure-cognition-and-molecular-markers-in-fragile-x-premutation-females
#8
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
https://www.readbyqxmd.com/read/28469864/fmr1-premutation-with-prader-willi-phenotype-and-fragile-x-associated-tremor-ataxia-syndrome
#9
Verónica Martínez-Cerdeño, Mirna Lechpammer, Stephen Noctor, Jeanelle Ariza, Paul Hagerman, Randi Hagerman
This is a report of FMR1 premutation with Prader-Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity, hyperphagia, and ADHD symptoms, typical of the PWP in FXS. In addition, the autopsy revealed multiple architectural cortical abnormalities.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28444183/calcium-dysregulation-and-cdk5-atm-pathway-involved-in-a-mouse-model-of-fragile-x-associated-tremor-ataxia-syndrome
#10
Gaëlle Robin, José R López, Glenda M Espinal, Susan Hulsizer, Paul J Hagerman, Isaac N Pessah
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration. Whether intranuclear inclusions containing DNA damage response (DDR) proteins are causally linked to abnormal synaptic function, neuronal growth and survival are unknown. In a mouse that harbors a premutation CGG expansion (preCGG), cortical and hippocampal FMRP expression is moderately reduced from birth through adulthood, with greater FMRP reductions in the soma than in the neurite, despite several-fold elevation of Fmr1 mRNA levels...
July 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28391068/abnormal-trajectories-in-cerebellum-and-brainstem-volumes-in-carriers-of-the-fragile-x-premutation
#11
Jun Yi Wang, David Hessl, Randi J Hagerman, Tony J Simon, Flora Tassone, Emilio Ferrer, Susan M Rivera
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain...
July 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28377694/drosophila-melanogaster-as-a-model-organism-to-study-rna-toxicity-of-repeat-expansion-associated-neurodegenerative-and-neuromuscular-diseases
#12
REVIEW
Alex C Koon, Ho Yin Edwin Chan
For nearly a century, the fruit fly, Drosophila melanogaster, has proven to be a valuable tool in our understanding of fundamental biological processes, and has empowered our discoveries, particularly in the field of neuroscience. In recent years, Drosophila has emerged as a model organism for human neurodegenerative and neuromuscular disorders. In this review, we highlight a number of recent studies that utilized the Drosophila model to study repeat-expansion associated diseases (READs), such as polyglutamine diseases, fragile X-associated tremor/ataxia syndrome (FXTAS), myotonic dystrophy type 1 (DM1) and type 2 (DM2), and C9ORF72-associated amyotrophic lateral sclerosis/frontotemporal dementia (C9-ALS/FTD)...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28369393/selective-rescue-of-heightened-anxiety-but-not-gait-ataxia-in-a-premutation-90cgg-mouse-model-of-fragile-x-associated-tremor-ataxia-syndrome
#13
Hoanna Castro, Emre Kul, Ronald A M Buijsen, Lies-Anne W F M Severijnen, Rob Willemsen, Renate K Hukema, Oliver Stork, Mónica Santos
A CGG-repeat expansion in the premutation range in the Fragile X mental retardation 1 gene (FMR1) has been identified as the genetic cause of Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder that manifests with action tremor, gait ataxia and cognitive impairments. In this study, we used a bigenic mouse model, in which expression of a 90CGG premutation tract is activated in neural cells upon doxycycline administration-P90CGG mouse model. We, here, demonstrate the behavioural manifestation of clinically relevant features of FXTAS patients and premutation carrier individuals in this inducible mouse model...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28131561/-fragile-x-syndrome-and-white-matter-abnormalities-case-study-of-two-brothers
#14
E Wallach, E Bieth, A Sevely, C Cances
Fragile X syndrome is the most usual cause of hereditary intellectual deficiency. Typical symptoms combine intellectual deficiency, social anxiety, intense emotional vigilance, and a characteristic facial dysmorphy. This is subsequent to a complete mutation of the FMR1 gene, considering a semidominant transmission linked to the unstable X. The expansion of the CGG triplet greater than 200 units combined with a high methylation pattern lead to a transcriptional silence of the FMR1 gene, and the protein product, the FMRP, is not synthesized...
January 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28065649/translation-of-expanded-cgg-repeats-into-fmrpolyg-is-pathogenic-and-may-contribute-to-fragile-x-tremor-ataxia-syndrome
#15
Chantal Sellier, Ronald A M Buijsen, Fang He, Sam Natla, Laura Jung, Philippe Tropel, Angeline Gaucherot, Hugues Jacobs, Hamid Meziane, Alexandre Vincent, Marie-France Champy, Tania Sorg, Guillaume Pavlovic, Marie Wattenhofer-Donze, Marie-Christine Birling, Mustapha Oulad-Abdelghani, Pascal Eberling, Frank Ruffenach, Mathilde Joint, Mathieu Anheim, Veronica Martinez-Cerdeno, Flora Tassone, Rob Willemsen, Renate K Hukema, Stéphane Viville, Cecile Martinat, Peter K Todd, Nicolas Charlet-Berguerand
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5' UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequesters specific proteins, and translation of CGG repeats into a polyglycine-containing protein, FMRpolyG. Here we developed transgenic mice expressing CGG repeat RNA with or without FMRpolyG. Expression of FMRpolyG is pathogenic, while the sole expression of CGG RNA is not...
January 18, 2017: Neuron
https://www.readbyqxmd.com/read/28005950/cgg-repeats-in-the-5-utr-of-fmr1-rna-regulate-translation-of-other-rnas-localized-in-the-same-rna-granules
#16
René Rovozzo, George Korza, Mei W Baker, Meng Li, Anita Bhattacharyya, Elisa Barbarese, John H Carson
CGG repeats in the 5'UTR of Fragile X Mental Retardation 1 (FMR1) RNA mediate RNA localization and translation in granules. Large expansions of CGG repeats (> 200 repeats) in FMR1, referred to as full mutations, are associated with fragile X syndrome (FXS). Smaller expansions (55-200 repeats), referred to as premutations, are associated with fragile X tremor ataxia syndrome (FXTAS) and fragile X premature ovarian insufficiency (FXPOI). TMPyP4 is a porphyrin ring compound that destabilizes CGG repeat RNA secondary structure...
2016: PloS One
https://www.readbyqxmd.com/read/27983607/study-of-the-genetic-etiology-of-primary-ovarian-insufficiency-fmr1-gene
#17
REVIEW
Maitane Barasoain, Gorka Barrenetxea, Iratxe Huerta, Mercedes Télez, Begoña Criado, Isabel Arrieta
Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. The etiology of POI is unknown but several genes have been reported as being of significance. The fragile X mental retardation 1 gene (FMR1) is one of the most important genes associated with POI...
December 13, 2016: Genes
https://www.readbyqxmd.com/read/27775646/associated-clinical-disorders-diagnosed-by-medical-specialists-in-188-fmr1-premutation-carriers-found-in-the-last-25-years-in-the-spanish-basque-country-a-retrospective-study
#18
Sonia Merino, Nekane Ibarluzea, Hiart Maortua, Begoña Prieto, Idoia Rouco, Maria-Asunción López-Aríztegui, Maria-Isabel Tejada
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country...
October 21, 2016: Genes
https://www.readbyqxmd.com/read/27771901/impaired-mitochondrial-function-and-dynamics-in-the-pathogenesis-of-fxtas
#19
M I Alvarez-Mora, L Rodriguez-Revenga, I Madrigal, M Guitart-Mampel, G Garrabou, M Milà
Mitochondrial involvement plays an important role in neurodegenerative diseases. At least one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of presenting an adult-onset neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). In an attempt to provide new insights into the mechanisms involved in the pathogenesis of FXTAS, we characterized mitochondrial function and dynamics by the assessment of oxidative respiratory chain function, mitochondrial content, oxidative stress levels, and mitochondrial network complexity...
October 22, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27761921/repeat-associated-non-aug-translation-from-antisense-ccg-repeats-in-fragile-x-tremor-ataxia-syndrome
#20
Amy Krans, Michael G Kearse, Peter K Todd
OBJECTIVE: Repeat-associated non-AUG (RAN) translation drives production of toxic proteins from pathogenic repeat sequences in multiple untreatable neurodegenerative disorders. Fragile X-associated tremor/ataxia syndrome (FXTAS) is one such condition, resulting from a CGG trinucleotide repeat expansion in the 5' leader sequence of the FMR1 gene. RAN proteins from the CGG repeat accumulate in ubiquitinated inclusions in FXTAS patient brains and elicit toxicity. In addition to the CGG repeat, an antisense mRNA containing a CCG repeat is also transcribed from the FMR1 locus...
December 2016: Annals of Neurology
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