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https://www.readbyqxmd.com/read/29655530/lifetime-endogenous-estrogen-exposure-and-disease-severity-in-female-patients-with-facioscapulohumeral-muscular-dystrophy
#1
Karlien Mul, Corinne G C Horlings, Nicol C Voermans, Tim H A Schreuder, Baziel G M van Engelen
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by large variability in disease severity, that is only partly explained by (epi)genetic factors. Clinical observations and recent in vitro work suggest a protective effect of estrogens in FSHD. The aims of this study were to assess whether the lifetime endogenous estrogen exposure contributes to the variability in disease severity in female patients, and whether female patients experience changes in disease progression during periods of hormonal changes...
March 8, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29625093/is-going-beyond-rasch-analysis-necessary-to-assess-the-construct-validity-of-a-motor-function-scale
#2
Tiffanie Guillot, Sylvain Roche, Pascal Rippert, Dalil Hamroun, Jean Iwaz, René Ecochard, Carole Vuillerot
OBJECTIVE: Examine whether a Rasch analysis is sufficient to establish the construct validity of the Motor Function Measure (MFM) and discuss whether weighting the MFM item scores would improve the MFM construct validity. DESIGN: Observational cross-sectional multicenter study. SETTING: 23 physical medicine departments, neurology departments, or reference centers for neuromuscular diseases PARTICIPANTS: 911 patients (aged 6 to 60 years) with Charcot-Marie-Tooth disease (CMT), facio-scapulo-humeral dystrophy (FSHD), or myotonic dystrophy type 1 (DM1) INTERVENTIONS: None...
April 3, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29618456/functional-domains-of-the-fshd-associated-dux4-protein
#3
Hiroaki Mitsuhashi, Satoshi Ishimaru, Sachiko Homma, Bryant Yu, Yuki Honma, Mary Lou Beermann, Jeffrey Boone Miller
Aberrant expression of the full-length isoform of DUX4 (DUX4-FL) appears to underlie pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). DUX4-FL is a transcription factor and ectopic expression of DUX4-FL is toxic to most cells. Previous studies showed that DUX4-FL-induced pathology requires intact homeodomains and that transcriptional activation required the C-terminal region. In this study, we further examined the functional domains of DUX4 by generating mutant, deletion, and fusion variants of DUX4...
April 4, 2018: Biology Open
https://www.readbyqxmd.com/read/29563141/monosomy-18p-is-a-risk-factor-for-facioscapulohumeral-dystrophy
#4
Judit Balog, Remko Goossens, Richard J L F Lemmers, Kirsten R Straasheijm, Patrick J van der Vliet, Anita van den Heuvel, Chiara Cambieri, Nicolas Capet, Léonard Feasson, Veronique Manel, Julian Contet, Marjolein Kriek, Colleen M Donlin-Smith, Claudia A L Ruivenkamp, Patricia Heard, Stephen J Tapscott, Jannine D Cody, Rabi Tawil, Sabrina Sacconi, Silvère M van der Maarel
BACKGROUND: 18p deletion syndrome is a rare disorder caused by partial or full monosomy of the short arm of chromosome 18. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among other genes, structural maintenance of chromosomes flexible hinge domain containing 1 ( SMCHD1 ) is hemizygous in most patients with 18p deletions. Digenic inheritance of a SMCHD1 mutation and a moderately sized D4Z4 repeat on a facioscapulohumeral muscular dystrophy (FSHD) permissive genetic background of chromosome 4 can cause FSHD type 2 (FSHD2)...
March 21, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29543984/electrical-impedance-myography-in-facioscapulohumeral-muscular-dystrophy-a-one-year-follow-up-study
#5
Karlien Mul, Chad Heatwole, Katy Eichinger, Nuran Dilek, William B Martens, Baziel G M van Engelen, Rabi Tawil, Jeffrey M Statland
INTRODUCTION: Electrical impedance myography (EIM) is a non-invasive technique for measuring muscle composition and a potential physiological biomarker for facioscapulohumeral muscular dystrophy (FSHD). METHODS: Thirty-two genetically confirmed and clinically affected FSHD participants underwent EIM in 7 muscles bilaterally. Correlations between EIM and baseline clinical measures were used to select EIM parameters of interest in FSHD, and EIM and clinical measures were followed for 1 year...
March 15, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29540582/a-multinational-study-on-motor-function-in-early-onset-fshd
#6
Jean K Mah, Jia Feng, Marni B Jacobs, Tina Duong, Kate Carroll, Katy de Valle, Cara L Carty, Lauren P Morgenroth, Michela Guglieri, Monique M Ryan, Paula R Clemens, Mathula Thangarajh, Richard Webster, Edward Smith, Anne M Connolly, Craig M McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Avital Cnaan, Yi-Wen Chen
OBJECTIVES: To investigate motor function associations with age, sex, and D4Z4 repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age. METHODS: We collected standardized motor assessments, including manual muscle testing (MMT), quantitative muscle testing, functional motor evaluations, and clinical severity scores (CSSs), at 12 Cooperative International Neuromuscular Research Group centers...
March 14, 2018: Neurology
https://www.readbyqxmd.com/read/29533181/nurd-and-caf-1-mediated-silencing-of-the-d4z4-array-is-modulated-by-dux4-induced-mbd3l-proteins
#7
Amy E Campbell, Sean C Shadle, Sujatha Jagannathan, Jong-Won Lim, Rebecca Resnick, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott
The DUX4 transcription factor is encoded by a retrogene embedded in each unit of the D4Z4 macrosatellite repeat. DUX4 is normally expressed in the cleavage-stage embryo, whereas chromatin repression prevents DUX4 expression in most somatic tissues. Failure of this repression causes facioscapulohumeral muscular dystrophy (FSHD) due to mis-expression of DUX4 in skeletal muscle. In this study, we used CRISPR/Cas9 engineered chromatin immunoprecipitation (enChIP) locus-specific proteomics to characterize D4Z4-associated proteins...
March 13, 2018: ELife
https://www.readbyqxmd.com/read/29478599/facioscapulohumeral-muscular-dystrophy
#8
Rabi Tawil
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy with a distinctive pattern of skeletal muscle weakness and a wide spectrum of disease severity. The pathophysiologic consequences of the genetic lesion, the loss of a critical number of macrosatellite repeats (D4Z4) in the subtelomeric region of chromosome 4q35, remained unexplained for almost two decades. Recent studies demonstrate that contraction in the number of D4Z4 repeats results in chromatin relaxation and transcriptional de-repression of DUX4, a gene normally expressed only in the germline...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29472544/author-correction-muscle-pathology-from-stochastic-low-level-dux4-expression-in-an-fshd-mouse-model
#9
Darko Bosnakovski, Sunny S K Chan, Olivia O Recht, Lynn M Hartweck, Collin J Gustafson, Laura L Athman, Dawn A Lowe, Michael Kyba
In the originally published version of this Article, an incorrect grant number, RO1 NS083549, was acknowledged. The correct grant number is RO1 AR055685. This error has now been corrected in both the PDF and HTML versions of the Article.
February 22, 2018: Nature Communications
https://www.readbyqxmd.com/read/29436205/fat1-gene-alteration-in-facioscapulohumeral-muscular-dystrophy-type-1
#10
Hyung Jun Park, Wookjae Lee, Se Hoon Kim, Jung Hwan Lee, Ha Young Shin, Seung Min Kim, Kee Duk Park, Ji Hyun Lee, Young Chul Choi
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles...
March 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29415061/a-cre-inducible-dux4-transgenic-mouse-model-for-investigating-facioscapulohumeral-muscular-dystrophy
#11
Takako Jones, Peter L Jones
The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DUX4-fl) mRNA splice isoform encodes a transcriptional activator; however, DUX4 and its unique DNA binding preferences are specific to old-world primates. Regardless, the somatic cytotoxicity caused by DUX4 expression is conserved when expressed in cells and animals ranging from fly to mouse. Thus, viable animal models based on DUX4-fl expression have been difficult to generate due in large part to overt developmental toxicity of low DUX4-fl expression from leaky transgenes...
2018: PloS One
https://www.readbyqxmd.com/read/29402602/genotype-and-phenotype-analysis-of-43-iranian-facioscapulohumeral-muscular-dystrophy-patients-evidence-for-anticipation
#12
Afagh Alavi, Sara Esmaeili, Shahriar Nafissi, Kimia Kahrizi, Hossein Najmabadi
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary myopathy (prevalence 1/8300-1/20,000). It is typically characterized by progressive weakness of facial, scapular and humeral muscles. Pelvic, abdominal and lower limbs muscles may eventually be affected. FSHD is classified into two subgroups, FSHD1 and FSHD2. FSHD1 is due to a reduction in the copy number of D4Z4 macrosatellites on chromosome 4q35 (11-100 repeats in normal individuals and 1-10 repeats in patients), and FSHD2 is caused by mutations in SMCHD1 or DNMT3B...
January 12, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29395674/specific-muscle-strength-is-reduced-in-facioscapulohumeral-dystrophy-an-mri-based-musculoskeletal-analysis
#13
Marco A Marra, Linda Heskamp, Karlien Mul, Saskia Lassche, Baziel G M van Engelen, Arend Heerschap, Nico Verdonschot
The aim was to test whether strength per unit of muscle area (specific muscle strength) is affected in facioscapulohumeral dystrophy (FSHD) patients, as compared to healthy controls. Ten patients and ten healthy volunteers underwent an MRI examination and maximum voluntary isometric contraction measurements (MVICs) of the quadriceps muscles. Contractile muscle volume, as obtained from the MR images, was combined with the MVICs to calculate the physiological cross-sectional area (PCSA) and muscle strength using a musculoskeletal model...
March 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29387734/pre-clinical-safety-and-off-target-studies-to-support-translation-of-aav-mediated-rnai-therapy-for-fshd
#14
Lindsay M Wallace, Nizar Y Saad, Nettie K Pyne, Allison M Fowler, Jocelyn O Eidahl, Jacqueline S Domire, Danielle A Griffin, Adam C Herman, Zarife Sahenk, Louise R Rodino-Klapac, Scott Q Harper
RNAi emerged as a prospective molecular therapy nearly 15 years ago. Since then, two major RNAi platforms have been under development: oligonucleotides and gene therapy. Oligonucleotide-based approaches have seen more advancement, with some promising therapies that may soon reach market. In contrast, vector-based approaches for RNAi therapy have remained largely in the pre-clinical realm, with limited clinical safety and efficacy data to date. We are developing a gene therapy approach to treat the autosomal-dominant disorder facioscapulohumeral muscular dystrophy...
March 16, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29381807/facioscapulohumeral-muscular-dystrophy-functional-composite-outcome-measure
#15
Katy Eichinger, Chad Heatwole, Stanley Iyadurai, Wendy King, Lindsay Baker, Susanne Heininger, Amy Bartlett, Nuran Dilek, William B Martens, Michael Mcdermott, John T Kissel, Rabi Tawil, Jeffrey M Statland
INTRODUCTION: We developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprising patient-identified areas of functional burden for future clinical trials. METHODS: We performed a prospective observational study of 41 patients with FSHD at 2 sites. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. We determined the test-retest reliability and convergent validity compared to established FSHD disease metrics...
January 30, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29329560/overexpression-of-the-double-homeodomain-protein-dux4c-interferes-with-myofibrillogenesis-and-induces-clustering-of-myonuclei
#16
Céline Vanderplanck, Alexandra Tassin, Eugénie Ansseau, Sébastien Charron, Armelle Wauters, Céline Lancelot, Kelly Vancutsem, Dalila Laoudj-Chenivesse, Alexandra Belayew, Frédérique Coppée
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with DNA hypomethylation at the 4q35 D4Z4 repeat array. Both the causal gene DUX4 and its homolog DUX4c are induced. DUX4c is immunodetected in every myonucleus of proliferative cells, while DUX4 is present in only 1/1000 of myonuclei where it initiates a gene deregulation cascade. FSHD primary myoblasts differentiate into either atrophic or disorganized myotubes. DUX4 expression induces atrophic myotubes and associated FSHD markers...
January 12, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29281018/smchd1-haploinsufficiency-exacerbates-the-phenotype-of-a-transgenic-fshd1-mouse-model
#17
Jessica C de Greef, Yvonne D Krom, Bianca den Hamer, Lauren Snider, Yosuke Hiramuki, Rob F P van den Akker, Kelsey Breslin, Miha Pakusch, Daniela C F Salvatori, Bram Slütter, Rabi Tawil, Marnie E Blewitt, Stephen J Tapscott, Silvère M van der Maarel
In humans, a copy of the DUX4 retrogene is located in each unit of the D4Z4 macrosatellite repeat that normally comprises 8-100 units. The D4Z4 repeat has heterochromatic features and does not express DUX4 in somatic cells. Individuals with facioscapulohumeral muscular dystrophy (FSHD) have a partial failure of somatic DUX4 repression resulting in the presence of DUX4 protein in sporadic muscle nuclei. Somatic DUX4 derepression is caused by contraction of the D4Z4 repeat to 1-10 units (FSHD1) or by heterozygous mutations in genes responsible for maintaining the D4Z4 chromatin structure in a repressive state (FSHD2)...
February 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29278724/perturbation-of-muscle-metabolism-in-patients-with-muscular-dystrophy-in-early-or-acute-phase-of-disease-in-vitro-high-resolution-nmr-spectroscopy-based-analysis
#18
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Neeraj Sinha
BACKGROUND: Muscular dystrophy is an inherited muscle disease, characterized by progressive muscle wasting and weakness of variable distribution and severity. METHODS: In vitro, high-resolution proton nuclear magnetic resonance (NMR) spectroscopy based analysis was performed on perchloric acid (PCA) extract of muscle specimens of patients suffering from various types of muscular dystrophies to identify alteration in hydrophilic low-molecular weight substances (aqueous metabolites) as compared to muscle of control subjects as well as in between the types of muscular dystrophy...
March 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29236297/mri-change-metrics-of-facioscapulohumeral-muscular-dystrophy-stir-and-t1
#19
Mark R Ferguson, Sandra L Poliachik, Christopher B Budech, Nancy E Gove, Gregory T Carter, Leo H Wang, Daniel G Miller, Dennis W W Shaw, Seth D Friedman
INTRODUCTION: MRI evaluation in facioscapulohumeral muscular dystrophy (FSHD) demonstrates fatty replacement and inflammation/edema in muscle. Our previous work demonstrated short T1 inversion recovery (STIR)-hyperintense (STIR+) signal in muscle 2 years before fatty replacement. We evaluated leg muscle STIR changes and fatty replacement within 14 months. METHODS: FSHD subjects received 2 MRI scans of thigh and calf over a 6.9- to 13.8-month interval. Quality of life measures were collected...
December 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29162933/deep-characterization-of-a-common-d4z4-variant-identifies-biallelic-dux4-expression-as-a-modifier-for-disease-penetrance-in-fshd2
#20
Richard Jlf Lemmers, Patrick J van der Vliet, Judit Balog, Jelle J Goeman, Wibowo Arindrarto, Yvonne D Krom, Kirsten R Straasheijm, Rashmie D Debipersad, Gizem Özel, Janet Sowden, Lauren Snider, Karlien Mul, Sabrina Sacconi, Baziel van Engelen, Stephen J Tapscott, Rabi Tawil, Silvère M van der Maarel
Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4 macrosatellite repeat contraction in chromosome 4q35 (FSHD1) or variants in genes encoding D4Z4 chromatin repressors (FSHD2). A clinical hallmark of FSHD is variability in onset and progression suggesting the presence of disease modifiers. A well-known cis modifier is the polymorphic DUX4 polyadenylation signal (PAS) that defines FSHD permissive alleles: D4Z4 chromatin relaxation on non-permissive alleles which lack the DUX4-PAS cannot cause disease in the absence of stable DUX4 mRNA...
January 2018: European Journal of Human Genetics: EJHG
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