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Congenital muscular dystrophy ullrich

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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/28831785/clinical-pathologic-and-genetic-features-of-collagen-vi-related-myopathy-in-korea
#2
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/28688748/congenital-muscular-dystrophies-in-the-uk-population-clinical-and-molecular-spectrum-of-a-large-cohort-diagnosed-over-a-12-year-period
#3
Maria Sframeli, Anna Sarkozy, Marta Bertoli, Guja Astrea, Judith Hudson, Mariacristina Scoto, Rachael Mein, Michael Yau, Rahul Phadke, Lucy Feng, Caroline Sewry, Adeline Ngoh Seow Fen, Cheryl Longman, Gary McCullagh, Volker Straub, Stephanie Robb, Adnan Manzur, Kate Bushby, Francesco Muntoni
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive report of the relative frequency and clinical and genetic spectrum of CMD in the UK. Genetic analysis of CMD genes in the UK is centralised in London and Newcastle. Between 2001 and 2013, a genetically confirmed diagnosis of CMD was obtained for 249 unrelated individuals referred to these services...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#4
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/27784478/-correlation-between-thigh-muscle-magnetic-resonance-imaging-findings-and-clinical-features-of-congenital-muscular-dystrophies-a-preliminary-study
#5
L L Wang, J Du, X N Fu, Y B Fan, C J Wei, J Ding, D D Tan, J X Xiao, H Xiong
Objective: To analyze the clinical and magnetic resonance imaging (MRI) features of congenital muscular dystrophy (CMD) to improve the diagnostic level. Method: Clinical manifestations and thigh muscle MRI results of 8 cases of CMD diagnosed on genetic level from April 2013 to November 2015 were investigated. MRI was performed on the thigh muscles of all cases. Fatty infiltration of different muscles described in T1WI was graded to evaluate. Clinical symptoms and signs, as well as muscle MRI features were analyzed by statistical description...
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27453230/-target-and-sandwich-signs-in-thigh-muscles-have-high-diagnostic-values-for-collagen-vi-related-myopathies
#6
Jun Fu, Yi-Ming Zheng, Su-Qin Jin, Jun-Fei Yi, Xiu-Juan Liu, He Lyn, Zhao-Xia Wang, Wei Zhang, Jiang-Xi Xiao, Yun Yuan
BACKGROUND: Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. METHODS: Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study...
August 5, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27375477/tendon-extracellular-matrix-alterations-in-ullrich-congenital-muscular-dystrophy
#7
Francesca Sardone, Francesco Traina, Alice Bondi, Luciano Merlini, Spartaco Santi, Nadir Mario Maraldi, Cesare Faldini, Patrizia Sabatelli
Collagen VI (COLVI) is a non-fibrillar collagen expressed in skeletal muscle and most connective tissues. Mutations in COLVI genes cause two major clinical forms, Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). In addition to congenital muscle weakness, patients affected by COLVI myopathies show axial and proximal joint contractures and distal joint hypermobility, which suggest the involvement of the tendon function. We examined a peroneal tendon biopsy and tenocyte culture of a 15-year-old patient affected by UCMD with compound heterozygous COL6A2 mutations...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/26945058/deep-rna-profiling-identified-clock-and-molecular-clock-genes-as-pathophysiological-signatures-in-collagen-vi-myopathy
#8
Chiara Scotton, Matteo Bovolenta, Elena Schwartz, Maria Sofia Falzarano, Elena Martoni, Chiara Passarelli, Annarita Armaroli, Hana Osman, Carmelo Rodolico, Sonia Messina, Elena Pegoraro, Adele D'Amico, Enrico Bertini, Francesca Gualandi, Marcella Neri, Rita Selvatici, Patrizia Boffi, Maria Antonietta Maioli, Hanns Lochmüller, Volker Straub, Katherine Bushby, Tiziana Castrignanò, Graziano Pesole, Patrizia Sabatelli, Luciano Merlini, Paola Braghetta, Paolo Bonaldo, Paolo Bernardi, Reghan Foley, Sebahattin Cirak, Irina Zaharieva, Francesco Muntoni, Daniele Capitanio, Cecilia Gelfi, Ekaterina Kotelnikova, Anton Yuryev, Michael Lebowitz, Xiping Zhang, Brian A Hodge, Karyn A Esser, Alessandra Ferlini
Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1(-/-)) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in both Col6a1(-/-)mice and patients with collagen VI pathology...
April 15, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/26944560/collagen-vi-ng2-axis-in-human-tendon-fibroblasts-under-conditions-mimicking-injury-response
#9
Francesca Sardone, Spartaco Santi, Francesca Tagliavini, Francesco Traina, Luciano Merlini, Stefano Squarzoni, Matilde Cescon, Raimund Wagener, Nadir Mario Maraldi, Paolo Bonaldo, Cesare Faldini, Patrizia Sabatelli
In response to injury, tendon fibroblasts are activated, migrate to the wound, and contribute to tissue repair by producing and organizing the extracellular matrix. Collagen VI is a microfibrillar collagen enriched in the pericellular matrix of tendon fibroblasts with a potential regulatory role in tendon repair mechanism. We investigated the molecular basis of the interaction between collagen VI and the cell membrane both in tissue sections and fibroblast cultures of human tendon, and analyzed the deposition of collagen VI during migration and myofibroblast trans-differentiation, two crucial events for tendon repair...
March 1, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/26438297/a-nonsense-variant-in-col6a1-in-landseer-dogs-with-muscular-dystrophy
#10
Frank Steffen, Thomas Bilzer, Jan Brands, Lorenzo Golini, Vidhya Jagannathan, Michaela Wiedmer, Michaela Drögemüller, Cord Drögemüller, Tosso Leeb
A novel canine muscular dystrophy in Landseer dogs was observed. We had access to five affected dogs from two litters. The clinical signs started at a few weeks of age, and the severe progressive muscle weakness led to euthanasia between 5 and 15 months of age. The pedigrees of the affected dogs suggested a monogenic autosomal-recessive inheritance of the trait. Linkage and homozygosity mapping indicated two potential genome segments for the causative variant on chromosomes 10 and 31 harboring a total of 4...
December 2015: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/26221953/a-talen-exon-skipping-design-for-a-bethlem-myopathy-model-in-zebrafish
#11
Zlatko Radev, Jean-Michel Hermel, Yannick Elipot, Sandrine Bretaud, Sylvain Arnould, Philippe Duchateau, Florence Ruggiero, Jean-Stéphane Joly, Frédéric Sohm
Presently, human collagen VI-related diseases such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) remain incurable, emphasizing the need to unravel their etiology and improve their treatments. In UCMD, symptom onset occurs early, and both diseases aggravate with ageing. In zebrafish fry, morpholinos reproduced early UCMD and BM symptoms but did not allow to study the late phenotype. Here, we produced the first zebrafish line with the human mutation frequently found in collagen VI-related disorders such as UCMD and BM...
2015: PloS One
https://www.readbyqxmd.com/read/26108908/-ullrich-congenital-muscular-dystrophy-the-usefulness-of-muscular-magnetic-resonance-imaging-in-its-diagnosis
#12
LETTER
M Llanos Carrasco-Marina, Susana Quijano-Roy, Gemma Iglesias-Escalera, Ana Jorge-Blanco, Ana Carro-Martinez, Nuria Gutierrez-Cruz
No abstract text is available yet for this article.
July 1, 2015: Revista de Neurologia
https://www.readbyqxmd.com/read/25978941/paternal-germline-mosaicism-in-collagen-vi-related-myopathies
#13
Annarita Armaroli, Cecilia Trabanelli, Chiara Scotton, Anna Venturoli, Rita Selvatici, Giacomo Brisca, Luciano Merlini, Claudio Bruno, Alessandra Ferlini, Francesca Gualandi
BACKGROUND: Collagen VI-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal laxity, serious respiratory dysfunction and cutaneous alterations, due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. The severe Ullrich congenital muscular dystrophy (UCMD) can be due to autosomal recessive mutations in one of the three genes with a related 25% recurrence risk...
September 2015: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/25533456/aberrant-mitochondria-in-a-bethlem-myopathy-patient-with-a-homozygous-amino-acid-substitution-that-destabilizes-the-collagen-vi-%C3%AE-2-vi-chain
#14
Laura K Zamurs, Miguel A Idoate, Eric Hanssen, Asier Gomez-Ibañez, Pau Pastor, Shireen R Lamandé
Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite ends of a clinical spectrum caused by mutations in the extracellular matrix protein collagen VI. Bethlem myopathy is relatively mild, and patients remain ambulant in adulthood while many UCMD patients lose ambulation by their teenage years and require respiratory interventions. Dominant and recessive mutations are found across the entire clinical spectrum; however, recessive Bethlem myopathy is rare, and our understanding of the molecular pathology is limited...
February 13, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/25477819/melanocytes-from-patients-affected-by-ullrich-congenital-muscular-dystrophy-and-bethlem-myopathy-have-dysfunctional-mitochondria-that-can-be-rescued-with-cyclophilin-inhibitors
#15
Alessandra Zulian, Francesca Tagliavini, Erika Rizzo, Camilla Pellegrini, Francesca Sardone, Nicoletta Zini, Nadir Mario Maraldi, Spartaco Santi, Cesare Faldini, Luciano Merlini, Valeria Petronilli, Paolo Bernardi, Patrizia Sabatelli
Ullrich congenital muscular dystrophy and Bethlem myopathy are caused by mutations in collagen VI (ColVI) genes, which encode an extracellular matrix protein; yet, mitochondria play a major role in disease pathogenesis through a short circuit caused by inappropriate opening of the permeability transition pore, a high-conductance channel, which causes a shortage in ATP production. We find that melanocytes do not produce ColVI yet they bind it at the cell surface, suggesting that this protein may play a trophic role and that its absence may cause lesions similar to those seen in skeletal muscle...
2014: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/25477818/nutritional-status-evaluation-in-patients-affected-by-bethlem-myopathy-and-ullrich-congenital-muscular-dystrophy
#16
Silvia Toni, Riccardo Morandi, Marcello Busacchi, Lucia Tardini, Luciano Merlini, Nino Carlo Battistini, Massimo Pellegrini
Collagen VI mutations lead to disabling myopathies like Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). We have investigated the nutritional and metabolic status of one UCMD and seven BM patients (five female, three male, mean age 31 ± 9 years) in order to find a potential metabolic target for nutritional intervention. For this study, we used standard anthropometric tools, such as BMI evaluation and body circumference measurements. All results were compared to dual-energy X-ray absorptiometry (DXA), considered the "gold standard" method...
2014: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/25473580/the-value-of-respiratory-muscle-testing-in-a-child-with-congenital-muscular-dystrophy
#17
Sonia Khirani, Ivana Dabaj, Alessandro Amaddeo, Adriana Ramirez, Susana Quijano-Roy, Brigitte Fauroux
Respiratory muscle testing is often limited to noninvasive volitional tests such as vital capacity and maximal static pressures. We report the case of a 12-year-old boy with congenital muscular dystrophy (CMD) in whom invasive and non-volitional respiratory muscle tests showed an elective diaphragmatic dysfunction with the preservation of expiratory muscle strength. This finding, coupled with a clinical phenotype associating diffuse muscle atrophy with finger hyperlaxity and proximal contractures, strengthened the suspicion of Ullrich CMD...
September 2014: Respirology Case Reports
https://www.readbyqxmd.com/read/25309428/cyclosporin-a-promotes-in-vivo-myogenic-response-in-collagen-vi-deficient-myopathic-mice
#18
Francesca Gattazzo, Sibilla Molon, Valeria Morbidoni, Paola Braghetta, Bert Blaauw, Anna Urciuolo, Paolo Bonaldo
Mutations of genes encoding for collagen VI cause various muscle diseases in humans, including Bethlem myopathy and Ullrich congenital muscular dystrophy. Collagen VI null (Col6a1 (-/-)) mice are affected by a myopathic phenotype with mitochondrial dysfunction, spontaneous apoptosis of muscle fibers, and defective autophagy. Moreover, Col6a1 (-/-) mice display impaired muscle regeneration and defective self-renewal of satellite cells after injury. Treatment with cyclosporin A (CsA) is effective in normalizing the mitochondrial, apoptotic, and autophagic defects of myofibers in Col6a1 (-/-) mice...
2014: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/25211533/muscle-proteomics-reveals-novel-insights-into-the-pathophysiological-mechanisms-of-collagen-vi-myopathies
#19
Sara De Palma, Daniele Capitanio, Michele Vasso, Paola Braghetta, Chiara Scotton, Paolo Bonaldo, Hanns Lochmüller, Francesco Muntoni, Alessandra Ferlini, Cecilia Gelfi
Mutations in the collagen VI genes cause the Ullrich congenital muscular dystrophy (UCMD), with severe phenotype, and Bethlem myopathy (BM) with mild to moderate phenotype. Both, UCMD and BM patients show dystrophic features with degeneration/regeneration and replacement of muscle with fat and fibrous connective tissue. At molecular level, UCMD patients show autophagic impairment and increased PTP opening; these features are less severe in BM. To elucidate the biochemical mechanisms adopted by the muscle to adapt to collagen VI deficiency in BM and UCMD patients, a proteome analysis was carried out on human muscle biopsies...
November 7, 2014: Journal of Proteome Research
https://www.readbyqxmd.com/read/25204870/mosaicism-for-dominant-collagen-6-mutations-as-a-cause-for-intrafamilial-phenotypic-variability
#20
Sandra Donkervoort, Ying Hu, Tanya Stojkovic, Nicol C Voermans, A Reghan Foley, Meganne E Leach, Jahannaz Dastgir, Véronique Bolduc, Thomas Cullup, Alix de Becdelièvre, Lin Yang, Hai Su, Katherine Meilleur, Alice B Schindler, Erik-Jan Kamsteeg, Pascale Richard, Russell J Butterfield, Thomas L Winder, Thomas O Crawford, Robert B Weiss, Francesco Muntoni, Valérie Allamand, Carsten G Bönnemann
Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy, intermediate phenotypes, to the milder Bethlem myopathy. Both inter- and intrafamilial variable expressivity are commonly observed. We present clinical, immunohistochemical, and genetic data on four COL6-RD families with marked intergenerational phenotypic heterogeneity. This variable expression seemingly masquerades as anticipation is due to parental mosaicism for a dominant mutation, with subsequent full inheritance and penetrance of the mutation in the heterozygous offspring...
January 2015: Human Mutation
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