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https://www.readbyqxmd.com/read/28273791/antisense-oligonucleotides-used-to-target-the-dux4-mrna-as-therapeutic-approaches-in-faciosscapulohumeral-muscular-dystrophy-fshd
#1
Eugénie Ansseau, Céline Vanderplanck, Armelle Wauters, Scott Q Harper, Frédérique Coppée, Alexandra Belayew
FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent hereditary myopathies and is generally characterized by progressive muscle atrophy affecting the face, scapular fixators; upper arms and distal lower legs. The FSHD locus maps to a macrosatellite D4Z4 repeat array on chromosome 4q35. Each D4Z4 unit contains a DUX4 gene; the most distal of which is flanked by a polyadenylation site on FSHD-permissive alleles, which allows for production of stable DUX4 mRNAs. In addition, an open chromatin structure is required for DUX4 gene transcription...
March 3, 2017: Genes
https://www.readbyqxmd.com/read/28273136/dux4-induced-dsrna-and-myc-mrna-stabilization-activate-apoptotic-pathways-in-human-cell-models-of-facioscapulohumeral-dystrophy
#2
Sean C Shadle, Jun Wen Zhong, Amy E Campbell, Melissa L Conerly, Sujatha Jagannathan, Chao-Jen Wong, Timothy D Morello, Silvère M van der Maarel, Stephen J Tapscott
Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of DUX4 in skeletal muscle cells. DUX4 is a transcription factor that activates genes normally associated with stem cell biology and its mis-expression in FSHD cells results in apoptosis. To identify genes and pathways necessary for DUX4-mediated apoptosis, we performed an siRNA screen in an RD rhabdomyosarcoma cell line with an inducible DUX4 transgene. Our screen identified components of the MYC-mediated apoptotic pathway and the double-stranded RNA (dsRNA) innate immune response pathway as mediators of DUX4-induced apoptosis...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28263188/estrogens-enhance-myoblast-differentiation-in-facioscapulohumeral-muscular-dystrophy-by-antagonizing-dux4-activity
#3
Emanuela Teveroni, Marsha Pellegrino, Sabrina Sacconi, Patrizia Calandra, Isabella Cascino, Stefano Farioli-Vecchioli, Angela Puma, Matteo Garibaldi, Roberta Morosetti, Giorgio Tasca, Enzo Ricci, Carlo Pietro Trevisan, Giuliana Galluzzi, Alfredo Pontecorvi, Marco Crescenzi, Giancarlo Deidda, Fabiola Moretti
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is characterized by extreme variability in symptoms, with females being less severely affected than males and presenting a higher proportion of asymptomatic carriers. The sex-related factors involved in the disease are not known. Here, we have utilized myoblasts isolated from FSHD patients (FSHD myoblasts) to investigate the effect of estrogens on muscle properties. Our results demonstrated that estrogens counteract the differentiation impairment of FSHD myoblasts without affecting cell proliferation or survival...
April 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28222895/the-epigenetic-regulator-smchd1-in-development-and-disease
#4
REVIEW
Natasha Jansz, Kelan Chen, James M Murphy, Marnie E Blewitt
It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it works at the molecular level. We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1...
February 17, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28214289/bone-health-in-facioscapulohumeral-muscular-dystrophy-a-cross-sectional-study
#5
Hema Chagarlamudi, Alastair Corbett, Marion Stoll, Genila Bibat, Carla Grosmann, Carly Matichak Stock, Nikia Stinson, Jay Shapiro, Kathryn Wagner
INTRODUCTION: We provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Ninety-four adult individuals with FSHD1 from two sites were included in this cross-sectional study. Clinical characteristics and determinants of bone health were examined. Relationships between bone mineral density (BMD), strength and function were explored. RESULTS: Nearly a third of subjects were deficient in vitamin D3...
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28171552/model-systems-of-dux4-expression-recapitulate-the-transcriptional-profile-of-fshd-cells
#6
Sujatha Jagannathan, Sean C Shadle, Rebecca Resnick, Lauren Snider, Rabi N Tawil, Silvère M van der Maarel, Robert K Bradley, Stephen J Tapscott
No abstract text is available yet for this article.
October 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28161093/large-family-cohorts-of-lymphoblastoid-cells-provide-a-new-cellular-model-for-investigating-facioscapulohumeral-muscular-dystrophy
#7
Takako I Jones, Charis L Himeda, Daniel P Perez, Peter L Jones
Facioscapulohumeral muscular dystrophy (FSHD) is associated with aberrant epigenetic regulation of the chromosome 4q35 D4Z4 macrosatellite repeat. The resulting DNA hypomethylation and relaxation of epigenetic repression leads to increased expression of the deleterious DUX4-fl mRNA encoded within the distal D4Z4 repeat. With the typical late onset of muscle weakness, prevalence of asymptomatic individuals, and an autosomal dominant mode of inheritance, FSHD is often passed on from one generation to the next and affects multiple individuals within a family...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28121209/combined-treatment-with-intravitreal-bevacizumab-and-laser-photocoagulation-for-exudative-maculopathy-in-facioscapulohumeral-muscular-dystrophy
#8
Rita Matos, João Beato, Marta Silva, Sérgio Silva, Elisete Brandão, Fernando Falcão-Reis, Susana Penas
PURPOSE: To report a rare case of exudative maculopathy in a patient with facioscapulohumeral muscular dystrophy (FSHD), and its management. METHODS: Observational case report. RESULTS: A 62-year-old man with genetically confirmed FSHD was referred to our department complaining of decreased visual acuity in his left eye. At presentation, right eye examination was unremarkable and best-corrected visual acuity (BCVA) was 20/20. Left eye BCVA was 20/100 and it presented a dense cataract with the evidence of macular lipid exudation...
January 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28069416/abnormal-lipid-metabolism-in-skeletal-muscle-tissue-of-patients-with-muscular-dystrophy-in-vitro-high-resolution-nmr-spectroscopy-based-observation-in-early-phase-of-the-disease
#9
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Lily Pal, Neeraj Sinha
PURPOSE: Qualitative (assignment of lipid components) and quantitative (quantification of lipid components) analysis of lipid components were performed in skeletal muscle tissue of patients with muscular dystrophy in early phase of the disease as compared to control/normal subjects. METHODS: Proton nuclear magnetic resonance (NMR) spectroscopy based experiment was performed on the lipid extract of skeletal muscle tissue of patients with muscular dystrophy in early phase of the disease and normal individuals for the analysis of lipid components [triglycerides, phospholipids, total cholesterol and unsaturated fatty acids (arachidonic, linolenic and linoleic acid)]...
May 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/28067911/de-novo-mutations-in-smchd1-cause-bosma-arhinia-microphthalmia-syndrome-and-abrogate-nasal-development
#10
Christopher T Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-Ichiro Yoshiura, Myriam Oufadem, Tamara J Beck, Ruth McGowan, Alex C Magee, Janine Altmüller, Camille Dion, Holger Thiele, Alexandra D Gurzau, Peter Nürnberg, Dieter Meschede, Wolfgang Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bole-Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbilek, Audrey S M Teo, Michael L Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M Murphy, Chalermpong Chatdokmaiprai, Axel M Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles...
February 2017: Nature Genetics
https://www.readbyqxmd.com/read/28040729/polycomb-repressive-complex-1-provides-a-molecular-explanation-for-repeat-copy-number-dependency-in-fshd-muscular-dystrophy
#11
Valentina Casa, Valeria Runfola, Stefano Micheloni, Arif Aziz, F Jeffrey Dilworth, Davide Gabellini
Repression of repetitive elements is crucial to preserve genome integrity and has been traditionally ascribed to constitutive heterochromatin pathways. FacioScapuloHumeral Muscular Dystrophy (FSHD), one of the most common myopathies, is characterized by a complex interplay of genetic and epigenetic events. The main FSHD form is linked to a reduced copy number of the D4Z4 macrosatellite repeat on 4q35, causing loss of silencing and aberrant expression of the D4Z4-embedded DUX4 gene leading to disease. By an unknown mechanism, D4Z4 copy-number correlates with FSHD phenotype...
February 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28000226/abnormal-spontaneous-activity-in-primary-myopathic-disorders
#12
Monika Nojszewska, Malgorzata Gawel, Elzbieta Szmidt-Salkowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Lusakowska, Biruta Kierdaszuk, Marta Lipowska, Anna Macias, Damian Gawel, Andrzej Seroka, Anna M Kaminska
INTRODUCTION: Reproducible noninsertional spontaneous activity (SA), with the exception of end-plate activity, is an unequivocal sign of abnormality and is one of the most useful findings on electromyography. METHODS: In this retrospective study we analyzed occurrence and distribution of abnormal SA in 151 patients with genetically confirmed myopathies. RESULTS: Complex repetitive discharges (CRD) occurred more frequently than fibrillation potentials (fibs) and positive sharp waves (PSW) in centronuclear myopathy (CNM) and limb-girdle muscular dystrophy type 2A (LGMD-2A), whereas fib/PSW were observed more often in desminopathy and facioscapulohumeral dystrophy (FSHD)...
December 21, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28000006/mri-as-outcome-measure-in-facioscapulohumeral-muscular-dystrophy-1-year-follow-up-of-45-patients
#13
Grete Andersen, Julia R Dahlqvist, Christoffer R Vissing, Karen Heje, Carsten Thomsen, John Vissing
There is no effective treatment available for facioscapulohumeral muscular dystrophy type 1 (FSHD1), but emerging therapies are under way that call for a better understanding of natural history in this condition. In this prospective, longitudinal study, we used quantitative MRI to assess yearly disease progression in patients with FSHD1. Ambulatory patients with confirmed diagnosis of FSHD1 (25/20 men/women, age 20-75 years, FSHD score: 0-12) were tested with 359-560-day interval between tests. Using the MRI Dixon technique, muscle fat replacement was evaluated in paraspinal, thigh, and calf muscles...
March 2017: Journal of Neurology
https://www.readbyqxmd.com/read/27978915/-features-of-facioscapulohumeral-muscular-dystrophy-in-oral-and-maxillofacial-region-and-mri-analysis-of-facial-muscles
#14
Y H Liu, Y X Ma, J Hu, G D Gao, Y K Wu, Z Y Zhang
Objective: To investigate the manifestation of facioscapulohumeral muscular dystrophy (FSHD) in oral and maxillofacial region. Methods: A total of 12 patients diagnosed as FSHD and 20 healthy volunteers were included in the study. Their medical history was collected from these patients. The decayed missing filled teeth (DMFT), calculus index-simplified (CI-S), occlusal relationship, maximal opening of mouth and maximum bite force were recorded. The impressions were taken to measure the maximal hight of palate and the width of palate...
December 9, 2016: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
https://www.readbyqxmd.com/read/27922500/facioscapulohumeral-muscular-dystrophy
#15
Jeffrey M Statland, Rabi Tawil
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4. Approximately 95% of patients have FSHD type 1 (FSHD1), in which loss of DNA repetitive elements (D4Z4 repeats) in the subtelomeric region of chromosome 4q causes decreased methylation and epigenetic derepression of DUX4, a gene contained within each D4Z4 repeat...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27906075/nuclear-bodies-reorganize-during-myogenesis-in-vitro-and-are-differentially-disrupted-by-expression-of-fshd-associated-dux4
#16
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
#17
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...
2017: European Neurology
https://www.readbyqxmd.com/read/27822859/analyzing-copy-number-variation-using-pulsed-field-gel-electrophoresis-providing-a-genetic-diagnosis-for-fshd1
#18
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
#19
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...
December 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27762634/fatigue-in-facioscapulohumeral-muscular-dystrophy-a-qualitative-study-of-people-s-experiences
#20
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
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