Newsletter #64

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	Newsletter #64

DMD: evidence of microdystrophin efficacy Welcome to the latest issue of our newsletter! This issue gives you an overview of the main topics of the latest WMS Congress among which the evidence of the efficacy of microdystrophin in DMD and other news from the Institute of Myology. In a few weeks, the Telethon 2017 will begin. The French singer Zazie will be the ambassador of this edition, along with Lou, Anaëlle, Apollo, Mathilde and their families. We invite you to join us on the various events organized for the Institute of Myology’s Telethon from November 6th to mid-December.
At the Institute
A look back at the 22nd International Annual Congress of the WMS The 22nd edition of the International Congress of the World Muscle Society was held from October 3rd to 7th, 2017 in Saint-Malo. Read more
DMD: enrollment of the first patients at I-Motion in the study ESSENCE Enrollment of boys aged 7 to 13 with DMD in the phase III study ESSENCE started on August 10th. Read more
The Institute of Myology celebrated Science Festival The Myology Centre for Research of the Institute of Myology participated in the 2017 Science Festival Fair on October 14th-15th. Read more
3 questions to Karolina Aragon Karolina Aragon, a polyglot physician in her thirties, recently joined the I-Motion team. Read more
Our latest news
Gene therapy: Microdystrophin restores muscle strength in DMD Researchers demonstrated for the first time the efficacy of an innovative gene therapy in the treatment of Duchenne muscular dystrophy. Read more
Myogenesis in myasthenia gravis Autoimmune attack in MG appears to have unsuspected pathogenic effects on SCs and muscle regeneration, with potential consequences on myogenic signalling pathways, and subsequently on clinical outcome, especially in the case of muscle stress. Read more
Negative data of sialic acid extended-release in GNE myopathy Due to the negative results of the Phase III trial of sialic acid extended-release in GNE myopathy, Ultragenyx will halt the development of this molecule. Read more
World Duchenne Awareness Day 2017 September 7th is World Duchenne Awareness Day, the opportunity to highlight the disease. More than 30 years after the discovery of the gene responsible for the disease, treatments are advancing. Read more
CMT1A: identification of new biological markers An international collaboration including researchers from the Institute of Myology identified five biological markers of the evolution and severity of CMT1A. Read more
Downregulation of the glial GLT1 glutamate transporter and Purkinje cell dysfunction in a mouse model of DM1 The subexpression of glutamate glial transporter in the central nervous system is implicated in cerebral injury in DM1. Read more
More breaking news
Ranolazine for the treatment of myotonia congenita Results of an open-label trial of ranolazine in congenital myotonia show an improvement in symptoms, including myotonia. Read more
Tricyclo-DNA antisense oligonucleotide treatment: A promising systemic alternative for treating SMA The authors show that systemic delivery of tricyclo-DNA antigens oilgonucleotide in a type III SMA mouse augments retention of exon 7 in SMN2 mRNA both in peripheral organs and the CNS. Read more
Duchenne and Becker muscular dystrophy Ataluren in patients with nonsense mutation DMD Cardiac profile of asymptomatic children with BMD and DMD under treatment with steroids and with/without perindopril Long-term microdystrophin gene therapy is effective in GRMD
Other neuromuscular diseases and basic research Clinical and mutational spectrum of Japanese patients with MORC2 Newborn screening to diagnose SMA before symptom onset Is RIG-I staining a reliable biomarker of dermatomyositis? Newborn screening for lysosomal storage disorders in Illinois Correction of a pathogenic splice-site mutation using non-homologous end-joining Long-term treatment with leuprorelin for SBMA A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome Novel clinical and pathological features in cystinosis distal myopathy NEFH mutations in CMT cause protein aggregation and neuronal death Brain imaging in myotonic dystrophy type 1 Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy Diaphragmatic dysfunction in SEPN1-related myopathy Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice
In brief
Operation “1,000 researchers in schools in France and abroad” Launch for the 5th consecutive year of the awareness-raising campaign "1,000 researchers in schools in France and abroad", from November 6th to December 1st. Read more
1st International Conference on Imaging in Neuromuscular Disease, November 19th-21st in Berlin, Germany Registration is now open for the conference. The programme will highlight developments and advances in all aspects of muscle imaging with sessions on Diagnostic Muscle Imaging, New Imaging Techniques and Quantitative Muscle Imaging. Read more
TREAT-NMD International Conference, November 27th-29th in Freiburg, Germany The aim of this international conference is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients. Read more
International Scientific Congress on SMA, January 25th-27th 2018 in Krakow, Poland SMA Europe welcome you to Krakow for International Scientific Congress on spinal muscular atrophy. Read more
Job opportunities St. Jude Children’s Research Hospital (Memphis, TN, USA) and Fred Hutchinson Cancer Research Center (Seattle, WA, USA) are seeking postdoc fellows. Read more
Latest Publications from the Institute
Roman, W.,Martins, J. P.,Carvalho, F. A.,Voituriez, R.,Abella, J. V. G.,Santos, N. C.,Cadot, B.,Way, M.,Gomes, E. R. Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle Nat Cell Biol, 2017 ; (SP) : Gerhalter, T.,Carlier, P. G.,Marty, B. Acute changes in extracellular volume fraction in skeletal muscle monitored by 23Na NMR spectroscopy Physiol Rep, 2017 ; 5 (16) : e13380 Lilleker, J. B.,Vencovsky, J.,Wang, G.,Wedderburn, L. R.,Diederichsen, L. P.,Schmidt, J.,Oakley, P.,Benveniste, O.,Danieli, M. G.,Danko, K.,Thuy, N. T. P.,Vazquez-Del Mercado, M.,Andersson, H.,De Paepe, B.,deBleecker, J. L.,Maurer, B.,McCann, L. J.,Pipitone, N.,McHugh, N.,Betteridge, Z. E.,New, P.,Cooper, R. G.,Ollier, W. E.,Lamb, J. A.,Krogh, N. S.,Lundberg, I. E.,Chinoy, H.,all EuroMyositis, contributors The EuroMyositis registry: an international collaborative tool to facilitate myositis research Ann Rheum Dis, 2017 ; (SP) : Decostre, V.,Laforet, P.,De Antonio, M.,Kachetel, K.,Canal, A.,Ollivier, G.,Nadaj-Pakleza, A.,Petit, F. M.,Wahbi, K.,Fayssoil, A.,Eymard, B.,Behin, A.,Labrune, P.,Hogrel, J. Y. Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa Mol Genet Metab, 2017 ; (SP) : Fledrich, R,Mannil, M,Leha, A,Ehbrecht, C,Solari, A,Pelayo-Negro, A L,Berciano, J,Schlotter-Weigel, B,Schnizer, T,Prukop, T,Garcia-Angarita, N,Czesnik, D,Haberlová, J,Mazanec, R,Paulus, W,Walter, M,Hogrel, J Y,Dubourg, O,Schenone, A,Baets, J,de Jonghe, P,Shy, M,Horvath, R,Pareyson, D,Seeman, P,Young, P,Sereda, M W Biomarkers predict outcome in Charcot Marie Tooth Disease 1A J Neurol Neurosurg Psychiatry, 2017 ; (SP) : Echigoya, Y.,Lim, K. R. Q.,Trieu, N.,Bao, B.,Miskew Nichols, B.,Vila, M. C.,Novak, J. S.,Hara, Y.,Lee, J.,Touznik, A.,Mamchaoui, K.,Aoki, Y.,Takeda, S.,Nagaraju, K.,Mouly, V.,Maruyama, R.,Duddy, W.,Yokota, T. Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy Mol Ther, 2017 ; (SP) : Elkhatib, N.,Bresteau, E.,Baschieri, F.,Rioja, A. L.,van Niel, G.,Vassilopoulos, S.,Montagnac, G. Tubular clathrin/AP-2 lattices pinch collagen fibers to support 3D cell migration Science, 2017 ; 356 (6343) : 1-10 Abath Neto, O.,Moreno, C. A. M.,Malfatti, E.,Donkervoort, S.,Bohm, J.,Guimaraes, J. B.,Foley, A. R.,Mohassel, P.,Dastgir, J.,Bharucha-Goebel, D. X.,Monges, S.,Lubieniecki, F.,Collins, J.,Medne, L.,Santi, M.,Yum, S.,Banwell, B.,Salort-Campana, E.,Rendu, J.,Faure, J.,Yis, U.,Eymard, B.,Cheraud, C.,Schneider, R.,Thompson, J.,Lornage, X.,Mesrob, L.,Lechner, D.,Boland, A.,Deleuze, J. F.,Reed, U. C.,Oliveira, A. S. B.,Biancalana, V.,Romero, N. B.,Bonnemann, C. G.,Laporte, J.,Zanoteli, E. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients Neuromuscul Disord, 2017 ; 27 (11) : 975-985 Dragin, N.,Nancy, P.,Villegas, J.,Roussin, R.,Panse, R. L.,Berrih-Aknin, S. Balance between Estrogens and Proinflammatory Cytokines Regulates Chemokine Production Involved in Thymic Germinal Center Formation Sci Rep, 2017 ; 7 (1) : 7970 Attia, M.,Maurer, M.,Robinet, M.,Le Grand, F.,Fadel, E.,Le Panse, R.,Butler-Browne, G.,Berrih-Aknin, S. Muscle satellite cells are functionally impaired in myasthenia gravis: consequences on muscle regeneration Acta Neuropathol, 2017 ; (SP) : Tard, C.,Tiffreau, V.,Jaillette, E.,Jouen, F.,Nelson, I.,Bonne, G.,Yaou, R. B.,Romero, N.,Vallee, L.,Vermersch, P.,Nguyen, S.,Maurage, C. A.,Cuisset, J. M. Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy Neuropediatrics, 2017 ; 48 (6) : 473-476 Pires, V. B.,Simoes, R.,Mamchaoui, K.,Carvalho, C.,Carmo-Fonseca, M. Short (16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes PLoS ONE, 2017 ; 12 (7) : e0181065 Laforet, P.,Malfatti, E.,Vissing, J. Update on new muscle glycogenosis Curr Opin Neurol, 2017 ; 30 (5) : 449-456 Santos-Zas, I.,Negroni, E.,Mamchaoui, K.,Mosteiro, C. S.,Gallego, R.,Butler-Browne, G. S.,Pazos, Y.,Mouly, V.,Camina, J. P. Obestatin Increases the Regenerative Capacity of Human Myoblasts Transplanted Intramuscularly in an Immunodeficient Mouse Model Mol Ther, 2017 ; (SP) : Lopomo, A.,Berrih-Aknin, S. Autoimmune Thyroiditis and Myasthenia Gravis Front Endocrinol (Lausanne), 2017 ; 8 : 169 Tosserams, A.,Papadopoulos, C.,Jardel, C.,Lemiere, I.,Romero, N. B.,De Lonlay, P.,Wahbi, K.,Voermans, N.,Hogrel, J. Y.,Laforet, P. Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations Mitochondrion, 2017 ; (SP) : Byrne, B. J.,Geberhiwot, T.,Barshop, B. A.,Barohn, R.,Hughes, D.,Bratkovic, D.,Desnuelle, C.,Laforet, P.,Mengel, E.,Roberts, M.,Haroldsen, P.,Reilley, K.,Jayaram, K.,Yang, K.,Walsh, L.,P. O. M. Investigators A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease Orphanet J Rare Dis, 2017 ; 12 (1) : 144 Stantzou, A.,Schirwis, E.,Swist, S.,Alonso-Martin, S.,Polydorou, I.,Zarrouki, F.,Mouisel, E.,Beley, C.,Julien, A.,Le Grand, F.,Garcia, L.,Colnot, C.,Birchmeier, C.,Braun, T.,Schuelke, M.,Relaix, F.,Amthor, H. BMP signaling regulates satellite cell-dependent postnatal muscle growth Development, 2017 ; 144 (15) : 2737-2747 Gauci, M. L.,Laly, P.,Sarah, L. L.,Behin, A.,Gottlieb, J.,Madelaine-Chambrin, I.,Baroudjian, B.,Da-Meda, L.,Mourah, S.,Battistella, M.,Basset Seguin, N.,Bagot, M.,Pages, C.,Vercellino, L.,Maisonobe, T.,Lebbe, C. Focal necrotizing myopathy with 'dropped-head syndrome' induced by cobimetinib in metastatic melanoma Melanoma Res, 2017 ; (SP) : Jacquier, A.,Delorme, C.,Belotti, E.,Juntas-Morales, R.,Sole, G.,Dubourg, O.,Giroux, M.,Maurage, C. A.,Castellani, V.,Rebelo, A.,Abrams, A.,Zuchner, S.,Stojkovic, T.,Schaeffer, L.,Latour, P. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death Acta Neuropathol Commun, 2017 ; 5 (1) : 55

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Legal This is the newsletter of current medical science from the Institute of Myology. It is published every two months. Chief Editor: Marie-Pierre Verrier Editorial Board: Marianne Perreau-Saussine; J. Andoni Urtizberea. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Nathalie Haslin; Hala Alameddine; Delphine Alibert. Do you have any questions? Would you like to share some news? Please contact us. © 2017 - AFM - Institut de Myologie. ISSN 1772-9866