Newsletter #52

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	2015-09-16 Newsletter #52

Telethon 2015: “The Fight of Parents, The Life of Children”. After a long break for the summer holidays, welcome to the latest issue of our newsletter! Preparations are well underway for the 28th edition of the Telethon, which will take place over the weekend of December 4th and 5th 2015. This year’s ambassador is the singer, actor and writer Marc Lavoine. The campaign slogan for Telethon 2015: “The Fight of Parents, The Life of Children”. Our newsletter aims to keep you updated with the latest news from the world of Myology, including a selection of recent international and local news, new publications from research teams at the Institute and interesting job opportunities.
At the Institute
Telethon 2015: 4 families, 4 stories, 4 fights against rare disease Four families, all affected by rare diseases, will be the ambassadors of thousands, all gathered around the message: “The Fight of Parents, The Life of Children.” Read more
NMR Lab was rewarded at ISMRM congress The team of Dr Pierre Carlier (NMR Laboratory – Spectroscopy Laboratory) presented several posters and oral communications wherein five won awards. Read more
Our latest news
FAT1 expression and disease onset in FSHD muscles The authors have recently shown that mice with disrupted Fat1 functions exhibit FSHD-like phenotypes. They therefore investigated the expression of the human FAT1 gene in FSHD. Read more
Predominant expiratory muscle dysfunction in FSHD This study compared two age- and sex-matched groups of 29 patients, with and without respiratory dysfunction. Read more
Development of a QoL questionnaire for slowly progressive neuromuscular disease To assess health-related quality of life (HRQL) in patients suffering from slowly progressive neuromuscular disease (NMD) using item response theory (IRT), a questionnaire called QoL-NMD was developed. Read more
International breaking news
Stem cell-derived muscle fibers offer new avenue for muscular dystrophy treatment A study recently revealed a new technique to generate muscle fibers, thus offering a better model to study muscular diseases including DMD. Read more
Parent Project Muscular Dystrophy: Development of the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration Among the challenges confronting patients with rare diseases is a dearth of treatment options. The development of safe and effective new therapies is hampered by challenges associated with conducting clinical trials in small populations. Read more
Large-scale serum protein biomarker discovery in DMD Serum biomarkers in DMD may provide deeper insights into disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs of drug effects, and be useful as surrogate outcome measures to predict later clinical benefit. Read more
Myotonic dystrophy Measuring disease burden with the myotonic dystrophy health index Development of criteria related to household activities to assist the referral of DM1 patients to rehabilitation services
Inflammatory myopathy Anti-SRP antibodies determine a distinct subset of inflammatory myopathy Activation of the unfolded protein response in sporadic inclusion-body myositis Can ultrasound elastography replace MRI in detecting active myositis in children?
FSHD Regular aerobic training with or without postexercise protein improves fitness in FHSD Individual epigenetic status and stability of repression of the D4Z4 macrosatellite correlates with FSHD disease
Congenital muscular dystrophy Clinical characteristics of megaconial congenital muscular dystrophy New guideline for CMD diagnosis and care Dual exon skipping of dystrophin and myostatin in neonatal mdx mice
Duchenne muscular dystrophy Ocular and neurodevelopmental characteristics in Duchenne muscular dystrophy MuStem cell transplantation: first demonstration of differential gene expression in a DMD-like context Eyeblink conditioning is not impaired in DMD The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development Revised Duchenne Anesthesia Recommendations 2015
Other neuromuscular diseases and basic research SMN2 splice modulators extend survival in SMA mice Identification of a spectrum of clinical phenotypes associated with GMPPB mutations HACD1 promotes myoblast fusion and skeletal muscle growth Early-onset LMNA-related muscular dystrophy is mainly due to de novo mutations in the LMNA gene Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva MYOM3 fragments are biomarkers for the detection, evaluation and treatment monitoring of muscular dystrophies Mutations in ACTA1 cause severe congenital actin related myopathy A new scapuloperoneal phenotype associated with an ACTA1 mutation Identifying myasthenia gravis patients at risk of exacerbations and emergency treatments Impact of home use of mechanical airway clearance devices on health service utilisation Psychometric properties of the Duke Health Profile in neuromuscular disease population FDA approved testing of OPMD Drug RYR1-related myopathies: a wide spectrum of phenotypes throughout life
In brief
New FSHD Care Guideline The AAN and AANEM have published new recommendations for the evaluation, diagnosis, prognostication, and treatment of patients with FSHD based on the best available scientific studies. Read more
LGMD Awareness Day The first Global “Limb Girdle Muscular Dystrophy Awareness Day” will be held on September 30th 2015. It is an annual collaborative effort to globally raise awareness of individuals living with this disease. Read more
Myology 2016: Save the date! The 5th International Congress of Myology will take place 14-18 March 2016. Please note that poster submission deadline is October 12th 2016. Read more
Job opportunities Postdoctoral position to assess the role of the endocytic machinery in mechanotransduction (Institute of Myology, Paris) and Eyes High Postdoctoral Scholar Position (University of Calgary, Canada). Read more
Latest Publications from the Institute
Marty, B.,Vignaud, A.,Greiser, A.,Robert, B.,de Sousa, P. L.,Carlier, P. G. BLOCH equations-based reconstruction of myocardium t1 maps from modified look-locker inversion recovery sequence PLoS ONE, 2015 ; 10 (5) : e0126766 Pekkala, S.,Wiklund, P.,Hulmi, J. J.,Pollanen, E.,Marjomaki, V.,Munukka, E.,Pierre, P.,Mouly, V.,Mero, A.,Alen, M.,Cheng, S. Cannabinoid receptor 1 and acute resistance exercise - In vivo and in vitro studies in human skeletal muscle Peptides, 2015 ; 67 : 55-63 Klein, A. F.,Dastidar, S.,Furling, D.,Chuah, M. K. Therapeutic Approaches for Dominant Muscle Diseases: Highlight on Myotonic Dystrophy Curr Gene Ther, 2015 ; 15 (4) : 329-37 Huerta, E.,Jacquette, A.,Cohen, D.,Gargiulo, M.,Servais, L,Eymard, B,Angeard, N. Forme infantile de la dystrophie myotonique de type 1 (DM1) et troubles du spectre autistique (TSA): existe-t-il une comorbidité ? Neuropsychiatrie de l'Enfance et de l'Adolescence, 2015 ; 63 (2) : 91-98 Yuen, M.,Sandaradura, S. A.,Dowling, J. J.,Kostyukova, A. S.,Moroz, N.,Quinlan, K. G.,Lehtokari, V. L.,Ravenscroft, G.,Todd, E. J.,Ceyhan-Birsoy, O.,Gokhin, D. S.,Maluenda, J.,Lek, M.,Nolent, F.,Pappas, C. T.,Novak, S. M.,D'Amico, A.,Malfatti, E.,Thomas, B. P.,Gabriel, S. B.,Gupta, N.,Daly, M. J.,Ilkovski, B.,Houweling, P. J.,Davidson, A. E.,Swanson, L. C.,Brownstein, C. A.,Gupta, V. A.,Medne, L.,Shannon, P.,Martin, N.,Bick, D. P.,Flisberg, A.,Holmberg, E.,Van den Bergh, P.,Lapunzina, P.,Waddell, L. B.,Sloboda, D. D.,Bertini, E.,Chitayat, D.,Telfer, W. R.,Laquerriere, A.,Gregorio, C. C.,Ottenheijm, C. A.,Bonnemann, C. G.,Pelin, K.,Beggs, A. H.,Hayashi, Y. K.,Romero, N. B.,Laing, N. G.,Nishino, I.,Wallgren-Pettersson, C.,Melki, J.,Fowler, V. M.,MacArthur, D. G.,North, K. N.,Clarke, N. F. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy J Clin Invest, 2014 ; 124 (11) : 4693-4708 Santos, D. B.,Boussaid, G.,Stojkovic, T.,Orlikowski, D.,Letilly, N.,Behin, A.,Butel, S.,Lofaso, F.,Prigent, H. Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy Neuromuscul Disord, 2015 ; 25 (8) : 632-9 Negroni, E.,Gidaro, T.,Bigot, A.,Butler-Browne, G.,Mouly, V.,Trollet, C. Stem cells and muscle diseases: advances in cell therapy strategies Neuropathol Appl Neurobiol, 2015 ; 41 (3) : 270-287 Meliani, A.,Leborgne, C.,Triffault, S.,Jeanson-Leh, L.,Veron, P.,Mingozzi, F. Determination of anti-adeno-associated virus vector neutralizing antibody titer with an in vitro reporter system Hum Gene Ther Methods, 2015 ; 26 (2) : 45-53 Han, S. O.,Li, S.,Brooks, E. D.,Masat, E.,Leborgne, C.,Banugaria, S.,Bird, A.,Mingozzi, F.,Walmann, H.,Koeberl, D. Enhanced Efficacy from Gene Therapy in Pompe Disease Using Co-receptor Blockade Hum Gene Ther, 2015 ; 26 (1) : 26-35 Semplicini, C.,Vissing, J.,Dahlqvist, J. R.,Stojkovic, T.,Bello, L.,Witting, N.,Duno, M.,Leturcq, F.,Bertolin, C.,D'Ambrosio, P.,Eymard, B.,Angelini, C.,Politano, L.,Laforet, P.,Pegoraro, E. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E Neurology, 2015 ; 84 (17) : 1772-1781 Bruneteau, G.,Bauche, S.,Gonzalez de Aguilar, J. L.,Brochier, G.,Mandjee, N.,Tanguy, M. L.,Hussain, G.,Behin, A.,Khiami, F.,Sariali, E.,Hell-Remy, C.,Salachas, F.,Pradat, P. F.,Lacomblez, L.,Nicole, S.,Fontaine, B.,Fardeau, M.,Loeffler, J. P.,Meininger, V.,Fournier, E.,Koenig, J.,Hantai, D. Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients Ann Clin Transl Neurol, 2015 ; 2 (4) : 362-372 de la Vaissiere, S.,Toutain, A.,Chene, M. A.,Lagrue, E.,Cantagrel, S.,Provost, S.,Eymard, B.,Castelnau, P. Syndromes myastheniques congenitaux de l'enfant : strategies therapeutiques medicamenteuses Arch Pediatr, 2015 ; 22 (7) : 724-8 Miro, J.,Laaref, A. M.,Rofidal, V.,Lagrafeuille, R.,Hem, S.,Thorel, D.,Mechin, D.,Mamchaoui, K.,Mouly, V.,Claustres, M.,Tuffery-Giraud, S. FUBP1: a new protagonist in splicing regulation of the DMD gene Nucleic Acids Res, 2015 ; 43 (4) : 2378-2389 Mingozzi, F.,Buning, H. Adeno-Associated Viral Vectors at the Frontier between Tolerance and Immunity Front Immunol, 2015 ; 6 : 120 Goyenvalle, A.,Griffith, G.,Babbs, A.,Andaloussi, S. E.,Ezzat, K.,Avril, A.,Dugovic, B.,Chaussenot, R.,Ferry, A.,Voit, T.,Amthor, H.,Buhr, C.,Schurch, S.,Wood, M. J.,Davies, K. E.,Vaillend, C.,Leumann, C.,Garcia, L. Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers Nat Med, 2015 ; 21 (3) : 270-275 Echaniz-Laguna, A.,Carlier, R. Y.,Laloui, K.,Carlier, P.,Salort-Campana, E.,Pouget, J.,Laforet, P. SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france Muscle Nerve, 2015 ; 51 (6) : 884-889 Preisler, N.,Laforet, P.,Madsen, K. L.,Prahm, K. P.,Hedermann, G.,Vissing, C. R.,Galbo, H.,Vissing, J. Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III Neurology, 2015 ; 84 (17) : 1767-1771 Le Bihan, M. C.,Barrio-Hernandez, I.,Mortensen, T. P.,Henningsen, J.,Jensen, S. S.,Bigot, A.,Blagoev, B.,Butler-Browne, G.,Kratchmarova, I. Cellular Proteome Dynamics during Differentiation of Human Primary Myoblasts J Proteome Res, 2015 ; 14 (8) : 3348-3361 Bougerol, M.,Aurade, F.,Lambert, F. M.,Le Ray, D.,Combes, D.,Thoby-Brisson, M.,Relaix, F.,Pollet, N.,Tostivint, H. Generation of BAC Transgenic Tadpoles Enabling Live Imaging of Motoneurons by Using the Urotensin II-Related Peptide (ust2b) Gene as a Driver PLoS ONE, 2015 ; 10 (2) : e0117370 Echigoya, Y.,Mouly, V.,Garcia, L.,Yokota, T.,Duddy, W. In silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in duchenne muscular dystrophy PLoS ONE, 2015 ; 10 (3) : e0120058 Rau, F,Lainé, J,Ramanoudjame, L,Ferry, A,Arandel, L,Delalande, O,Jollet, A,Dingli, F,Lee, K Y,Peccate, C,Lorain, S,Kabashi, E,Athansopoulos, T,Koo, T,Loew, D,Swanson, M,Le Rumeur, E,Dickson, G,Allamand, V,Marie, J,Furling, D Abnormal splicing switch of DMD's penultimate exon compromises muscle fiber maintenance in Myotonic Dystrophy Nat Commun, 2015 ; 6 : 7205

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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 : Gaëlle Barrier Editorial Board : Thomas Voit; J. Andoni Urtizberea. Redaction : Racquel N. Cooper ; Anne Berthomier. Also participate : Lisa Cukierman ; Nathalie Haslin. Do you have any questions? Would you like to share some news? Please contact us. © 2015 - AFM - Institut de Myologie. ISSN 1772-9866