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https://www.readbyqxmd.com/read/27906075/nuclear-bodies-reorganize-during-myogenesis-in-vitro-and-are-differentially-disrupted-by-expression-of-fshd-associated-dux4
#1
Sachiko Homma, Mary Lou Beermann, Bryant Yu, Frederick M Boyce, Jeffrey Boone Miller
BACKGROUND: Nuclear bodies, such as nucleoli, PML bodies, and SC35 speckles, are dynamic sub-nuclear structures that regulate multiple genetic and epigenetic processes. Additional regulation is provided by RNA/DNA handling proteins, notably TDP-43 and FUS, which have been linked to ALS pathology. Previous work showed that mouse cell line myotubes have fewer but larger nucleoli than myoblasts, and we had found that nuclear aggregation of TDP-43 in human myotubes was induced by expression of DUX4-FL, a transcription factor that is aberrantly expressed and causes pathology in facioscapulohumeral dystrophy (FSHD)...
December 1, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27855411/leg-muscle-involvement-in-facioscapulohumeral-muscular-dystrophy-comparison-between-facioscapulohumeral-muscular-dystrophy-types-1-and-2
#2
Dorothea Mair, Monika Huegens-Penzel, Wolfram Kress, Christian Roth, Andreas Ferbert
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) presents with 2 genetically distinct types. We describe for the first time the MRI patterns of leg muscle involvement in type 2 and compare it with type 1. METHODS: The intramuscular fat content was assessed on lower extremity axial T1-weighted MRI scans in 6 FSHD1 and 5 FSHD2 patients. RESULTS: Overall, the muscle involvement profile did not differ substantially between FSHD1 and FSHD2...
November 18, 2016: European Neurology
https://www.readbyqxmd.com/read/27822859/analyzing-copy-number-variation-using-pulsed-field-gel-electrophoresis-providing-a-genetic-diagnosis-for-fshd1
#3
Richard J L F Lemmers
The myopathy facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by copy number variation of the D4Z4 macrosatellite repeat on chromosome 4. In unaffected individuals the number of 3.3 kb D4Z4 units varies between 8 and 100, whereas 1-10 units are seen in FSHD1 cases. A homologous and heterogenous D4Z4 array can be found on chromosome 10q, but contractions of this array are typically not associated with FSHD. Discriminating between the chromosome 4 and chromosome 10 D4Z4 arrays, as well as determining the array size, requires the use of pulsed-field gel electrophoresis, Southern blotting, and the isolation of high-quality DNA...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27816329/a-complex-interplay-of-genetic-and-epigenetic-events-leads-to-abnormal-expression-of-the-dux4-gene-in-facioscapulohumeral-muscular-dystrophy
#4
REVIEW
Laura Virginia Gatica, Alberto Luis Rosa
Facioscapulohumeral muscular dystrophy (FSHD), a prevalent inherited human myopathy, develops following a complex interplay of genetic and epigenetic events. FSHD1, the more frequent genetic form, is associated with: (1) deletion of an integral number of 3.3 Kb (D4Z4) repeated elements at the chromosomal region 4q35, (2) a specific 4q35 subtelomeric haplotype denominated 4qA, and (3) decreased methylation of cytosines at the 4q35-linked D4Z4 units. FSHD2 is most often caused by mutations at the SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain 1) gene, on chromosome 18p11...
September 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27762634/fatigue-in-facioscapulohumeral-muscular-dystrophy-a-qualitative-study-of-people-s-experiences
#5
Karen Schipper, Minne Bakker, Tineke Abma
PURPOSE: The aim of this article is to describe how fatigue affects the lives of people with facioscapulohumeral dystrophy (FSHD), how they experience fatigue, and how they deal with it in order to attune rehabilitation care to patients' needs. METHOD: A qualitative study, consisting of 25 semistructured interviews with patients with FSHD and severe fatigue (as measured with the checklist individual strength (CIS) fatigue questionnaire), was conducted to gain insight into the experiences of patients with fatigue...
October 20, 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27754912/quantitative-mri-reveals-decelerated-fatty-infiltration-in-muscles-of-active-fshd-patients
#6
Mark R Ferguson, Sandra L Poliachik, Michele L Shaffer, Seth D Friedman, Nicoline Voet, Barbara Janssen, Alexander Geurts, Baziel van Engelen, Arend Heerschap
No abstract text is available yet for this article.
October 18, 2016: Neurology
https://www.readbyqxmd.com/read/27744317/dux4-induces-a-transcriptome-more-characteristic-of-a-less-differentiated-cell-state-and-inhibits-myogenesis
#7
Paul Knopp, Yvonne D Krom, Christopher R S Banerji, Maryna Panamarova, Louise A Moyle, Bianca den Hamer, Silvère M van der Maarel, Peter S Zammit
Skeletal muscle wasting in facioscapulohumeral muscular dystrophy (FSHD) results in substantial morbidity. On a disease-permissive chromosome 4qA haplotype, genomic and/or epigenetic changes at the D4Z4 macrosatellite repeat allows transcription of the DUX4 retrogene. Analysing transgenic mice carrying a human D4Z4 genomic locus from an FSHD-affected individual showed that DUX4 was transiently induced in myoblasts during skeletal muscle regeneration. Centromeric to the D4Z4 repeats is an inverted D4Z4 unit encoding DUX4c...
October 15, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27734165/medication-adherence-in-patients-with-myotonic-dystrophy-and-facioscapulohumeral-muscular-dystrophy
#8
Bryan P Fitzgerald, Kelly M Conn, Joanne Smith, Andrew Walker, Amy L Parkhill, James E Hilbert, Elizabeth A Luebbe, Richard T Moxley Iii
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations. Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has not previously been studied in a large cohort of DM type 1 (DM1), DM type 2 (DM2), and FSHD patients. The purpose of our study was to survey medication adherence and disease manifestations in patients enrolled in the NIH-supported National DM and FSHD Registry...
December 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27722032/parp1-differentially-interacts-with-promoter-region-of-dux4-gene-in-fshd-myoblasts
#9
Vishakha Sharma, Sachchida Nand Pandey, Hunain Khawaja, Kristy J Brown, Yetrib Hathout, Yi-Wen Chen
OBJECTIVE: The goal of the study is to identity proteins, which interact with the promoter region of double homeobox protein 4 (DUX4) gene known to be causative for the autosomal dominant disorder Facioscapulohumeral Muscular Dystrophy (FSHD). METHODS: We performed a DNA pull down assay coupled with mass spectrometry analysis to identify proteins that interact with a DUX4 promoter probe in Rhabdomyosarcomca (RD) cells. We selected the top ranked protein poly (ADP-ribose) polymerase 1 (PARP1) from our mass spectrometry data for further ChIP-qPCR validation using patients' myoblasts...
August 2016: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/27692152/respiratory-pattern-in-a-fshd-pediatric-population
#10
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, Paola Tacchetti, Giacomo Brisca, Claudio Bruno, Carlo Minetti
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle. Respiratory involvement in FSHD has been described mainly in the most severely affected patients. In this work we tested the respiratory function by spirometry in 12 patients affected by FSHD with onset before 18 years. Spirometry results were correlated with motor involvement and compared to aged matched group of Becker patients. Of note FSHD patients present a peculiar pattern characterized by a flat shape in flow-volume loop...
October 2016: Respiratory Medicine
https://www.readbyqxmd.com/read/27677021/the-motor-function-measure-mfm-in-the-facio-scapulo-humeral-dystrophy-fshd-population-description-and-responsiveness
#11
Capucine de Lattre, Pascal Rippert, Dalil Hmaroun, Sabrina Sacconi, Isabelle Poirot, Carole Vuillerot
OBJECTIVE: To assess the applicability and the responsiveness of the motor function measure 1 (MFM) in a facio scapulo humeral dystrophy (FSHD) population. MATERIALS/PATIENTS AND METHODS: It is an observational, retrospective and multicenter, cohort study. MFM data came from the MFM database (see http://www.motor-function-measure.org/data-bank.aspx). Only FSHD patients with at least one MFM-32 were included. The distributions of the MFM scores (total score and MFM D1, D2 and D3 subscores) were analyzed by age...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27677015/seated-postural-in-wheelchair-in-nmd
#12
Nadine Pellegrini
OBJECTIVE: To study seated postural control in neuromuscular disorder. MATERIALS/PATIENTS AND METHODS: We conducted a retrospective observational cohort study of 130 neuromuscular adult patients having a positioning wheelchair consultation in Foundation of Garches. The assessment is done with the seated postural control measure for adults. RESULTS: Most of the patients had severe intensity illness, only10% were walking and 29% were with tracheostomial ventilation...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27672539/targeting-mrna-for-the-treatment-of-facioscapulohumeral-muscular-dystrophy
#13
REVIEW
Bo Bao, Rika Maruyama, Toshifumi Yokota
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited autosomal dominant disorder characterized clinically by progressive muscle degeneration. Currently, no curative treatment for this disorder exists. FSHD patients are managed through physiotherapy to improve function and quality of life. Over the last two decades, FSHD has been better understood as a disease genetically characterized by a pathogenic contraction of a subset of macrosatellite repeats on chromosome 4. Specifically, several studies support an FSHD pathogenesis model involving the aberrant expression of the double homeobox protein 4 (DUX4) gene...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27663058/muscle-mri-of-facioscapulohumeral-dystrophy-fshd-a-growing-demand-and-a-promising-approach
#14
F Fatehi, E Salort-Campana, A Le Troter, D Bendahan, S Attarian
Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized by weakness of the facial, shoulder (often with scapular winging), arm (including biceps and triceps) and abdominal muscles. Forearm muscles are usually spared and weakness is usually asymmetrical. Over the past few decades, muscle magnetic resonance imaging (MRI) has become established as a reliable and accurate noninvasive tool for the diagnosis and assessment of progression in neuromuscular diseases, showing specific patterns of muscle involvement for a number of myopathies...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27634379/segregation-between-smchd1-mutation-d4z4-hypomethylation-and-facio-scapulo-humeral-dystrophy-a-case-report
#15
Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort Campana, Virginie Mariot, Charlene Chaix, Catherine Vovan, Killian Mazaleyrat, Armand Tasmadjian, Rafaelle Bernard, Julie Dumonceaux, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier, Marc Bartoli
BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2). In 70-80 % of these patients, variants of the SMCHD1 gene segregate with 4qA haplotypes and D4Z4 hypomethylation. CASE PRESENTATION: We report a family presenting with neuromuscular symptoms reminiscent of FSHD but without D4Z4 copy reduction...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27616568/mouse-dux-is-myotoxic-and-shares-partial-functional-homology-with-its-human-paralog-dux4
#16
Jocelyn O Eidahl, Carlee R Giesige, Jacqueline S Domire, Lindsay M Wallace, Allison M Fowler, Susan M Guckes, Sara E Garwick-Coppens, Paul Labhart, Scott Q Harper
D4Z4 repeats are present in at least 11 different mammalian species, including humans and mice. Each repeat contains an open reading frame encoding a double homeodomain (DUX) family transcription factor. Aberrant expression of the D4Z4 ORF called DUX4 is associated with the pathogenesis of Facioscapulohumeral muscular dystrophy (FSHD). DUX4 is toxic to numerous cell types of different species, and over-expression caused dysmorphism and developmental arrest in frogs and zebrafish, embryonic lethality in transgenic mice, and lesions in mouse muscle...
September 11, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27530735/facioscapulohumeral-dystrophy-in-children-design-of-a-prospective-observational-study-on-natural-history-predictors-and-clinical-impact-ifocus-fshd
#17
Rianne J M Goselink, Tim H A Schreuder, Karlien Mul, Nicol C Voermans, Maaike Pelsma, Imelda J M de Groot, Nens van Alfen, Bas Franck, Thomas Theelen, Richard J Lemmers, Jean K Mah, Silvère M van der Maarel, Baziel G van Engelen, Corrie E Erasmus
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD; OMIM 158900 & 158901) is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant inheritance pattern. One of the major unsolved questions in FSHD is the marked clinical heterogeneity, ranging from asymptomatic individuals to severely affected patients with an early onset. An estimated 10% of FSHD patients have an early onset (onset before 10 years of age) and are traditionally classified as infantile FSHD...
2016: BMC Neurology
https://www.readbyqxmd.com/read/27530253/model-systems-of-dux4-expression-recapitulate-the-transcriptional-profile-of-fshd-cells
#18
Sujatha Jagannathan, Sean C Shadle, Rebecca Resnick, Lauren Snider, Rabi N Tawil, Silvère M van der Maarel, Robert K Bradley, Stephen J Tapscott
Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of the double-homeodomain transcription factor DUX4 in skeletal muscle cells. Many different cell culture models have been developed to study the pathophysiology of FSHD, frequently based on endogenous expression of DUX4 in FSHD cells or by mis-expression of DUX4 in control human muscle cells. Although results generated using each model are generally consistent, differences have also been reported, making it unclear which model(s) faithfully recapitulate DUX4 and FSHD biology...
August 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27519269/dux4-induced-constitutive-dna-damage-and-oxidative-stress-contribute-to-aberrant-differentiation-of-myoblasts-from-fshd-patients
#19
Petr Dmitriev, Yara Bou Saada, Carla Dib, Eugénie Ansseau, Ana Barat, Aline Hamade, Philippe Dessen, Thomas Robert, Vladimir Lazar, Ruy A N Louzada, Corinne Dupuy, Vlada Zakharova, Gilles Carnac, Marc Lipinski, Yegor S Vassetzky
Facioscapulohumeral dystrophy (FSHD) is one of the three most common muscular dystrophies in the Western world, however, its etiology remains only partially understood. Here, we provide evidence of constitutive DNA damage in in vitro cultured myoblasts isolated from FSHD patients and demonstrate oxidative DNA damage implication in the differentiation of these cells into phenotypically-aberrant myotubes. Double homeobox 4 (DUX4), the major actor in FSHD pathology induced DNA damage accumulation when overexpressed in normal human myoblasts, and RNAi-mediated DUX4 inhibition reduced the level of DNA damage in FSHD myoblasts...
August 9, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27495097/safety-and-efficacy-of-a-6-month-home-based-exercise-program-in-patients-with-facioscapulohumeral-muscular-dystrophy-a-randomized-controlled-trial
#20
Landry-Cyrille Bankolé, Guillaume Y Millet, John Temesi, Damien Bachasson, Marion Ravelojaona, Bernard Wuyam, Samuel Verges, Elodie Ponsot, Jean-Christophe Antoine, Fawzi Kadi, Léonard Féasson
BACKGROUND: Previous randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only. This study assessed the safety and efficacy of a 6-month home-based exercise training program on fitness, muscle, and motor function in FSHD patients. METHODS: Sixteen FSHD patients were randomly assigned to training (TG) and control (CG) groups (both n = 8) in a home-based exercise intervention...
August 2016: Medicine (Baltimore)
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