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Muscular myopathy

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https://www.readbyqxmd.com/read/28918041/gapmer-antisense-oligonucleotides-suppress-the-mutant-allele-of-col6a3-and-restore-functional-protein-in-ullrich-muscular-dystrophy
#1
Elena Marrosu, Pierpaolo Ala, Francesco Muntoni, Haiyan Zhou
Dominant-negative mutations in the genes that encode the three major α chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients. Gapmer antisense oligonucleotides (AONs) are usually used for gene silencing by stimulating RNA cleavage through the recruitment of an endogenous endonuclease known as RNase H to cleave the RNA strand of a DNA-RNA duplex. In this study, we exploited the application of the allele-specific silencing approach by gapmer AON as a potential therapy for Collagen-VI-related congenital muscular dystrophy (COL6-CMD)...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28916757/muscle-pathology-from-stochastic-low-level-dux4-expression-in-an-fshd-mouse-model
#2
Darko Bosnakovski, Sunny S K Chan, Olivia O Recht, Lynn M Hartweck, Collin J Gustafson, Laura L Athman, Dawn A Lowe, Michael Kyba
Facioscapulohumeral muscular dystrophy is a slowly progressive but devastating myopathy caused by loss of repression of the transcription factor DUX4; however, DUX4 expression is very low, and protein has not been detected directly in patient biopsies. Efforts to model DUX4 myopathy in mice have foundered either in being too severe, or in lacking muscle phenotypes. Here we show that the endogenous facioscapulohumeral muscular dystrophy-specific DUX4 polyadenylation signal is surprisingly inefficient, and use this finding to develop an facioscapulohumeral muscular dystrophy mouse model with muscle-specific doxycycline-regulated DUX4 expression...
September 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#3
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28915335/ecm-related-myopathies-and-muscular-dystrophies-pros-and-cons-of-protein-therapies
#4
Pam M Van Ry, Tatiana M Fontelonga, Pamela Barraza-Flores, Apurva Sarathy, Andreia M Nunes, Dean J Burkin
Extracellular matrix (ECM) myopathies and muscular dystrophies are a group of genetic diseases caused by mutations in genes encoding proteins that provide critical links between muscle cells and the extracellular matrix. These include structural proteins of the ECM, muscle cell receptors, enzymes, and intracellular proteins. Loss of adhesion within the myomatrix results in progressive muscle weakness. For many ECM muscular dystrophies, symptoms can occur any time after birth and often result in reduced life expectancy...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#5
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#6
REVIEW
James J Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies)...
September 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28887614/the-pro-fibrotic-connective-tissue-growth-factor-ctgf-ccn2-correlates-with-the-number-of-necrotic-regenerative-foci-in-dystrophic-muscle
#7
María Gabriela Morales, María José Acuña, Daniel Cabrera, Roel Goldschmeding, Enrique Brandan
Connective tissue growth factor (CTGF/CCN2) has strong inflammatory and profibrotic activities. Its expression is enhanced in skeletal muscular dystrophies such as Duchenne muscular dystrophy (DMD), a myopathy characterized by exacerbated inflammation and fibrosis. In dystrophic tissue, necrotic-regenerative foci, myofibroblasts, newly-regenerated muscle fibers and necrosis all occur simultaneously. To determine if CCN2 is involved in the appearance of the foci, we studied their presence and characteristics in mdx mice (DMD mouse model) compared to mdx mice hemizygous for CCN2 (mdx-Ccn2+/-)...
September 8, 2017: Journal of Cell Communication and Signaling
https://www.readbyqxmd.com/read/28881388/autosomal-dominant-calpainopathy-due-to-heterozygous-capn3-c-643_663del21
#8
Jennifer M Martinez-Thompson, Zhiyv Niu, Jennifer A Tracy, Steven A Moore, Andrea Swenson, Eric D Wieben, Margherita Milone
INTRODUCTION: A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe three families with AD calpainopathy carrying this isolated mutation. METHODS: Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28863457/bortezomib-induced-muscle-toxicity-in-multiple-myeloma
#9
Valeria Guglielmi, Dominika Nowis, Martina Tinelli, Manuela Malatesta, Laura Paoli, Matteo Marini, Paolo Manganotti, Radoslaw Sadowski, Grzegorz M Wilczynski, Vittorio Meneghini, Giuliano Tomelleri, Gaetano Vattemi
Multiple myeloma (MM) accounts for ∼13% of all hematologic malignancies. Bortezomib treatment is effective in MM, but can be complicated with neurological side effects. We describe a patient with symptomatic MM who had a reversible metabolic myopathy associated with bortezomib administration and pathologically characterized by excessive storage of lipid droplets together with mitochondrial abnormalities. In a single-center prospective study, 14 out of 24 patients with symptomatic MM were treated with bortezomib and, among these, 7 developed muscular signs and/or symptoms...
July 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28841698/long-term-follow-up-of-mri-changes-in-thigh-muscles-of-patients-with-facioscapulohumeral-dystrophy-a-quantitative-study
#10
Farzad Fatehi, Emmanuelle Salort-Campana, Arnaud Le Troter, Emilie Lareau-Trudel, Mark Bydder, Alexandre Fouré, Maxime Guye, David Bendahan, Shahram Attarian
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging (MRI) has been widely used to qualitatively and quantitatively evaluate in vivo the muscle alterations in various neuromuscular disorders...
2017: PloS One
https://www.readbyqxmd.com/read/28834869/acute-myopathy-following-intra-muscular-injection-of-compound-betamethasone-a-case-report
#11
Li-Yuan Sun, Xiao-Ling Chu
RATIONALE: We report a case of acute steroid myopathy in a patient with eczema receiving one dose of intra-muscular injection of Compound betamethasone. PATIENT CONCERNS: Acute steroid myopathy (ASM) is usually caused by exogenous corticosteroids, and typically, occurs with therapy using intravenous corticosteroids at high doses. DIAGNOSES: The patient was considered as a diagnosis of acute steroid myopathy. INTERVENTIONS: The patient was treated with non-steroid anti-inflammatory drug and other symptomatic therapy...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28831785/clinical-pathologic-and-genetic-features-of-collagen-vi-related-myopathy-in-korea
#12
Jung Hwan Lee, Ha Young Shin, Hyung Jun Park, Se Hoon Kim, Seung Min Kim, Young Chul Choi
BACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease entities, but they are now both classified as collagen VI-related myopathies, which cover a broad clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic characteristics of patients with collagen VI-related myopathy in Korea. METHODS: We reviewed the clinical, pathologic, and genetic features in 22 patients with collagen VI-related myopathy from 13 families, as confirmed by genetic analysis of collagen VI-related genes...
August 1, 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28831580/multiple-values-of-18-f-fdg-pet-ct-in-idiopathic-inflammatory-myopathy
#13
Yuan Li, Yunshan Zhou, Qian Wang
This study aimed to investigate the multiple values of (18)F-FDG PET/CT in detecting malignant tumors, evaluating myopathy, and determining interstitial lung disease in patients with idiopathic inflammatory myopathy (IIM). We retrospectively analyzed the data of 38 patients who were examined by (18)F-FDG PET/CT and eventually diagnosed as IIM. We also collected the data of another 22 cases with negative PET/CT as the control. Pulmonary HRCT images were acquired simultaneously with regular (18)F-FDG PET/CT imaging for each patient...
August 22, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28805065/neurohormonal-modulation-for-treatment-of-cardiac-involvement-in-dystrophinopathies-and-mitochondrial-disease
#14
Alberto Aimo, Alberto Giannoni, Vincenzo Castiglione, Michelangelo Mancuso, Gabriele Siciliano, Massimo F Piepoli, Claudio Passino, Michele Emdin
Mutations in either the nuclear or the mitochondrial genome can lead to structural and functional changes within the skeletal muscles. These genetic skeletal myopathies are rare, although not infrequent when their cumulative incidence is considered. Dystrophinopathies (Duchenne and Becker muscular dystrophies) and mitochondrial disease are some of the most frequent clinical entities, and those developing heart failure more frequently. Neurohormonal antagonism represents the cornerstone of heart failure management, even though its role in the prevention and treatment of heart failure in patients with dystrophinopathies or mitochondrial disorders remains undefined...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28792153/clinical-characteristics-of-spinal-muscular-atrophy-in-korea-confirmed-by-genetic-analysis
#15
Heewon Hwang, Jung Hwan Lee, Young Chul Choi
The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient assessment. This is a single center oriented, retrospective, and descriptive study conducted in Seoul, South Korea. Genetic mutational analysis to detect the deletion of exon 7 of the SMN1 gene on chromosome 5q13 was performed by multiplex ligation-dependent probe amplification. Clinical features, electrodiagnostic study results, muscle biopsy results, and laboratory test results were reviewed from patient medical records...
September 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28782262/relevance-of-ultrasonography-in-assessing-disease-activity-in-patients-with-idiopathic-inflammatory-myopathies
#16
Joana Sousa Neves, Daniela Santos Faria, Marcos Cerqueira, Maria Carmo Afonso, Filipa Teixeira
AIM: Idiopathic inflammatory myopathies (IIM) comprise a group of rare and heterogeneous diseases difficult to diagnose and follow up. Precise measures for assessing disease activity are not available at the moment. Our objective was to evaluate the usefulness of ultrasonography (US) as a monitoring tool in IIM. METHOD: The study evaluated IIM patients diagnosed and followed up from 2005 to 2015 in our department. Fifteen patients with a mean age of 52.2 ± 22...
August 7, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28780615/a-knock-in-knock-out-mouse-model-of-hspb8-associated-distal-hereditary-motor-neuropathy-and-myopathy-reveals-toxic-gain-of-function-of-mutant-hspb8
#17
Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied, Steven Goossens, Jody J Haigh, Claude Libert, Chantal Ceuterick-de Groote, Joy Irobi, Joachim Weis, Vincent Timmerman
Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot-Marie-Tooth disease, and recently distal myopathy. It is so far not clear how mutant HSPB8 induces the neuronal and muscular phenotypes and if a common pathogenesis lies behind these diseases. Growing evidence points towards a role of HSPB8 in chaperone-associated autophagy, which has been shown to be a determinant for the clearance of poly-glutamine aggregates in neurodegenerative diseases but also for the maintenance of skeletal muscle myofibrils...
August 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28778101/anti-hmgcr-antibody-related-necrotizing-autoimmune-myopathy-mimicking-muscular-dystrophy
#18
Céline Tard, Vincent Tiffreau, Emmanuelle Jaillette, Fabienne Jouen, Isabelle Nelson, Gisèle Bonne, Rabah Ben Yaou, Norma Romero, Louis Vallée, Patrick Vermersch, Sylvie Nguyen, Claude-Alain Maurage, Jean-Marie Cuisset
No abstract text is available yet for this article.
August 4, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28774448/imaging-of-myopathies
#19
REVIEW
Lukas Filli, Sebastian Winklhofer, Gustav Andreisek, Filippo Del Grande
This article clarifies the current role of MR imaging in the assessment of myopathies. Typical MR imaging findings are discussed for different forms of myopathies, including idiopathic inflammatory myopathies, muscular dystrophies, and congenital myopathies. The last section deals with advanced MR imaging techniques and their potential role in further characterization of muscular disease.
September 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28765407/idiopathic-inflammatory-myopathies-a-guide-to-subtypes-diagnostic-approach-and-treatment
#20
Alexander Oldroyd, James Lilleker, Hector Chinoy
The idiopathic inflammatory myopathies are a group of conditions characterised by inflammation of muscles (myositis) and other body systems. The diagnosis can be challenging because of the many potential clinical features and extra-muscular manifestations, which may be seemingly unrelated. An accurate diagnosis requires up-to-date understanding of the clinical manifestations, different clinical subtypes and appropriate interpretation of investigations, including newly described serological subtypes.This review will detail the approach to the diagnosis of an idiopathic inflammatory myopathy, based on up-to-date knowledge...
July 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
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