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https://www.readbyqxmd.com/read/28717081/severe-glomerular-endothelial-injury-associated-with-a-short-d4z4-repeat-on-chromosome-4q35
#1
Satoshi Hibino, Asami Takeda, Ichizo Nishino, Naoyuki Iwata, Masaru Nakano, Kazuki Tanaka, Satoshi Yamakawa, Takuhito Nagai, Osamu Uemura
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot analysis showed a short D4Z4 repeat on chromosome 4q35. She presented with steroid-resistant nephrotic syndrome, and her renal histopathological findings were severe glomerular endothelial injury, which is a new complication associated with this genetic abnormality...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28716073/surgical-correction-of-hyperlordosis-in-facioscapulohumeral-muscular-dystrophy-a-case-report
#2
Haining Tan, Fan Feng, Youxi Lin, Chong Chen, Zheng Li, Jianxiong Shen
BACKGROUND: Hyperlordosis is common in facioscapulohumeral muscular dystrophy (FSHD), which cannot be controlled by bracing. While the surgical treatment is neither reported nor recommended in previous studies, we report the first corrective surgery for hyperlordosis in one wheelchair-dependent FSHD patient. CASE PRESENTATION: A 15-year-old, wheelchair-dependent girl complaining of hyperlordosis and lower extremity weakness was diagnosed as FSHD. Preoperative examination showed hyperlordosis of 116° with scoliosis of 44°...
July 17, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28690764/are-antioxidants-a-potential-therapy-for-fshd-a-review-of-the-literature
#3
REVIEW
Adam Philip Denny, Alison Kay Heather
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy affecting approximately 1 in 7500 individuals worldwide. It is a progressive disease characterised by skeletal muscle weakness and wasting. A genetic mutation on the 4q35 chromosome results in the expression of the double homeobox 4 gene (DUX4) which drives oxidative stress, inflammation, toxicity, and atrophy within the skeletal muscle. FSHD is characterised by oxidative stress, and there is currently no cure and a lack of therapies for the disease...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28637492/expression-patterns-of-fshd-causing-dux4-and-myogenic-transcription-factors-pax3-and-pax7-are-spatially-distinct-in-differentiating-human-stem-cell-cultures
#4
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G Miller
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle. The DUX4 transcription factor has DNA binding domains similar to several paired class homeotic transcription factors, but only myogenic factors PAX3 and PAX7 rescue cell viability when co-expressed with DUX4 in mouse myoblasts. This observation suggests competition for DNA binding sites in satellite cells might limit muscle repair and may be one aspect of DUX4-associated myotoxicity...
June 21, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28625604/225th-enmc-international-workshop-a-global-fshd-registry-framework-18-20-november-2016-heemskerk-the-netherlands
#5
Karlien Mul, June Kinoshita, Hugh Dawkins, Baziel van Engelen, Rossella Tupler
No abstract text is available yet for this article.
April 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28593035/smchd1-regulates-a-limited-set-of-gene-clusters-on-autosomal-chromosomes
#6
Amanda G Mason, Roderick C Slieker, Judit Balog, Richard J L F Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N Filippova, Enrico Ne, Rabi Tawil, Bas T Heijmans, Stephen J Tapscott, Silvère M van der Maarel
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situations result in the incomplete epigenetic repression of the D4Z4-encoded retrogene DUX4 in somatic cells, leading to the aberrant expression of DUX4 in the skeletal muscle. In mice, Smchd1 regulates chromatin repression at different loci, having a role in CpG methylation establishment and/or maintenance...
2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28587678/smchd1-regulates-a-limited-set-of-gene-clusters-on-autosomal-chromosomes
#7
Amanda G Mason, Roderick C Slieker, Judit Balog, Richard J L F Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N Filippova, Enrico Ne, Rabi Tawil, Bas T Heijmans, Stephen J Tapscott, Silvère M van der Maarel
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situations result in the incomplete epigenetic repression of the D4Z4-encoded retrogene DUX4 in somatic cells, leading to the aberrant expression of DUX4 in the skeletal muscle. In mice, Smchd1 regulates chromatin repression at different loci, having a role in CpG methylation establishment and/or maintenance...
June 6, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28569257/current-status-and-future-prospect-of-fshd-region-gene-1
#8
Arman Kunwar Hansda, Ankit Tiwari, Manjusha Dixit
FSHD region gene 1 (FRG1), as the name suggests, is the primary candidate gene for fascioscapulohumeral muscular dystrophy disease. It seemingly affects muscle physiology in normal individuals but in FSHD, where it is found to be highly upregulated, might be involved in disruption of face, scapula and humeral skeletal muscle. Literature on FRG1, reviewed from 1996 to 2016, reveals that it is primarily associated with muscle development and maintenance. Approximately 75% of FSHD patients also show vascular abnormalities indicating that FRG1 might have some part to play in these abnormalities...
June 2017: Journal of Biosciences
https://www.readbyqxmd.com/read/28550484/respiratory-involvement-in-ambulant-and-non-ambulant-patients-with-facioscapulohumeral-muscular-dystrophy
#9
Sandra Moreira, Libby Wood, Debbie Smith, Chiara Marini-Bettolo, Michela Guglieri, Grace McMacken, Geraldine Bailey, Anna Mayhew, Robert Muni-Lofra, Gail Eglon, Maggie Williams, Volker Straub, Hanns Lochmüller, Teresinha Evangelista
Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Scale (CSS) scores. Patients were assigned to two severity groups using CSS: mild (scores <3.5) and moderate/severely affected (scores ≥3.5). Forced Vital Capacity (FVC) was classified as severely impaired if less than 50% of the predicted. Statistical analysis was performed using IBM SPSS Statistics 23, tests were two-tailed and the level of significance set at 5%...
June 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28540412/a-distal-auxiliary-element-facilitates-cleavage-and-polyadenylation-of-dux4-mrna-in-the-pathogenic-haplotype-of-fshd
#10
Natoya Peart, Eric J Wagner
The degenerative muscle disorder facioscapulohumeral dystrophy (FSHD) is thought to be caused by the inappropriate expression of the Double Homeobox 4 (Dux4) protein in muscle cells leading to apoptosis. Expression of Dux4 in the major form of FSHD is a function of two contributing molecular changes: contractions in the D4Z4 microsatellite repeat region where Dux4 is located and an SNP present within a region downstream of the D4Z4. This SNP provides a functional, yet non-consensus polyadenylation signal (PAS) is used for the Dux4 mRNA 3' end processing...
May 24, 2017: Human Genetics
https://www.readbyqxmd.com/read/28459454/conservation-and-innovation-in-the-dux4-family-gene-network
#11
Jennifer L Whiddon, Ashlee T Langford, Chao-Jen Wong, Jun Wen Zhong, Stephen J Tapscott
Facioscapulohumeral dystrophy (FSHD; MIM158900, MIM158901) is caused by misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD are hindered by incomplete knowledge regarding the conservation of the DUX4 transcriptional program in other species. Despite the divergence of their binding motifs, both mouse DUX and human DUX4 in mouse and human muscle cells, respectively, activate genes associated with cleavage-stage embryos, including MERVL and ERVL-MaLR retrotransposons. We found that human DUX4 expressed in mouse cells maintained modest activation of cleavage-stage genes driven by conventional promoters but did not activate MERVL-promoted genes...
June 2017: Nature Genetics
https://www.readbyqxmd.com/read/28456937/muscle-microdialysis-to-investigate-inflammatory-biomarkers-in-facioscapulohumeral-muscular-dystrophy
#12
Giorgio Tasca, Mauro Monforte, Maddalena Corbi, Giuseppe Granata, Donatella Lucchetti, Alessandro Sgambato, Enzo Ricci
Recent progresses in the understanding of facioscapulohumeral muscular dystrophy (FSHD) genetics opened the way to the development of targeted therapies. However, knowledge about pathophysiology of muscle damage is still limited and there is increasing need to identify biomarkers of disease activity in the perspective of clinical trial readiness.We analyzed inflammatory mediators in the interstitial fluid of muscles with different MRI signal in FSHD patients, comparing muscles displaying early lesions on short-tau inversion recovery (STIR) sequences with normal ones...
April 29, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28273791/antisense-oligonucleotides-used-to-target-the-dux4-mrna-as-therapeutic-approaches-in-faciosscapulohumeral-muscular-dystrophy-fshd
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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