Newsletter #53

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	Newsletter #53

Telethon will still take place on 4 & 5 december: the fight of families for the lives of children continues! Welcome to the latest issue of our newsletter! This issue brings you, amongst others, news about the transition to industrial production for biotherapies developed within the Biotherapies Institute for Rare Diseases (pulling together the knowledge and expertise of four centres for research founded by AFM-Telethon: Institute of Myology, Genethon, I-Stem and Atlantic Gene Therapies), award for a young Myologists and the creation of valuable research tools for the international scientific community. Events for the Institute of Myology’s Telethon, which began on November 2, will continue until December 17: come and join us, the program is online! And for those who are questioning whether Telethon 2015 will still take place: yes it will continue as planned, on 4 and 5 December. The configuration of the Telethon platform will be reviewed to guarantee the safety of all involved; all of our teams, volunteers and employees, are already mobilised.
At the Institute
A new step forward to gene-medicine for AFM-Telethon : to produce and cure AFM-Telethon has decided to produce gene-medicines from innovative biotherapies developed in the laboratories part of its Biotherapies Institute for Rare Diseases at an industrial scale, and to give patients suffering from rare genetic diseases access to them at a fair and contained price. Read more
Dr Edoardo Malfatti awarded “Young Myologist of the Year” at the WMS Congress 2015 The young neurologist has been awarded thank to his scientific report on the identification of a novel form of Nemaline myopathy associated with cardiomyopathy. Read more
Immortalised human cell lines for research In addition to its research activities at the Myology Centre for Research, Vincent Mouly's team has a service activity for the international scientific community, a platform for producing and sharing immortalised human cell lines. Read more
Our latest news
Spotlight on myofibrillar myopathies This paper reviews the data acquired on the six main genes and presents the experience from two French reference centres in Paris (Institute of Myology) and Marseille. Read more
Quantitative NMRI and NMRS indices: Promising markers for DMD therapy? In this study, researchers from the Institute of Mology describe quantitative NMRI and 31 P NMRS indices in the forearms of 24 patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping therapy and in 12 age-matched male controls (CONT). Read more
International breaking news
Identifying the underlying cause of autosomal recessive adolescent-onset distal myopathy Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. In this study, four patients from two unrelated Korean families were evaluated. Read more
Antioxidant vitamins and minerals improves physical performance in FSHD Despite major progress in the understanding of the genetic basis of FSHD, the exact mechanisms that lead to FSHD defects are not completely understood and no curative treatment is available. Read more
An updated review of surgery for scoliosis in DMD Scoliosis in patients with DMD is usually progressive and is treated with surgery. However, it is unclear whether the existing evidence is sufficiently scientifically rigorous to support a recommendation for spinal surgery for most patients with DMD and scoliosis. Read more
Becker and Duchenne muscular dystrophies Halofuginone directly ameliorates the pathology of the dystrophic muscle Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) Exon-skipping to rescue of γ-sarcoglycan deficiency Stem cell-mediated exon skipping of the dystrophin gene Therapeutic effect of statins in DMD Sodium nitrate alleviates functional muscle ischemia in patients with Becker muscular dystrophy A novel DMD mouse model carrying the most frequent exon duplication A simplified guide to comprehensive care for DMD Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells Beneficial effects of glucocorticoids in DMD Overexpression of human α7 integrin gene prolongs survival of dystrophin/utrophin deficient mice Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives Revised Duchenne Anesthesia Recommendations 2015
Limb-girdle muscular dystrophy Whole-exome sequencing for the genetic diagnosis of LGMD Desmin inclusion and myofibrillar disruption in an LGMD1D mouse model Potential of β-sarcoglycan gene replacement for LGMD2E
Inflammatory myopathies Correlation between muscle pathological features and outcome in juvenile dermatomyositis Largest genetic study of idiopathic inflammatory myopathies Treatment for inclusion body myositis
Charcot-Marie-Tooth disease Use of the sensor engineered glove test in Charcot-Marie-Tooth neuropathy Identification of metabolic and oxidative stress biomarkers in Charcot-Marie-Tooth Skin biopsies and morphologic abnormalities in CMT disease
Other neuromuscular diseases and basic research Expanding the clinical spectrum of hereditary fibrosing poikiloderma Clinical, biochemical and molecular characteristics of 16 patients with AGAT deficiency Intravenous immunoglobulin infusions are safe in the elderly DNA methylation is an age-sensitive upstream regulator of genes controlling cell quiescence Phase I/II clinical trial of a recombinant AAV vector expressing acid alpha-glucosidase in Pompe Disease Efficacy of combined cell and gene therapy in a murine model of merosin-deficient congenital muscular dystrophy type 1A Effect of modified antisense oligonucleotides on DM1 skeletal muscle Reducing the IGF-1 signaling pathway exerts a neuroprotective effect in SMA Considerations for performing orthognathic surgery in patients with congenital myopathies and congenital muscular dystrophies A novel mutation in troponin T1 causes nemaline myopathy SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles Clinical features of GNE myopathy in Roma patients homozygous for p.I618T New FSHD Care Guideline Ephedrine as add-on therapy for patients with myasthenia gravis
In brief
The French National Academy of Medicine awards its Grand Medal to Professor Fardeau Prof. Fardeau, founder of the Institute of Myology and its first Scientific and Medical Director, will receive the Academy’s highest honour, the Grand Medal, during the formal awards ceremony on December 15. Read more
Jean-Emile Morel : a new model for muscular contraction This treatise is crafted from a careful re-examination of all previously published evidence in every fields concerning muscle, muscular contraction mechanisms and some muscular diseases. Read more
Myotonic dystrophies: call for proposals for strategic translational projects The AFM-Telethon is launching a call for proposals for strategic translational projects. dedicated to the development of new therapies for myotonic dystrophy. The deadline for submitting applications is December 18, 2015. Read more
New Australian National Myotonic Dystrophy Registry A new Australian National Myotonic Dystrophy (DM1) Registry has been launched to collect DM1 patients’ gene sequence and clinical information about their disease. Read more
New FSHD Care Guideline The guideline emphasizes the use of genetic testing to confirm diagnosis, and treatment of FSHD-associated complications involving breathing, hearing loss and pain. Read more
Job opportunity A post-doctoral position is currently open at the GReD in Clermont-Ferrand, France in the team of Claire Chazaud. Read more
Latest Publications from the Institute
Junge, N.,Mingozzi, F.,Ott, M.,Baumann, U. Adeno-associated Virus Vector Based Gene Therapy for Monogenetic Metabolic Diseases of the Liver J Pediatr Gastroenterol Nutr, 2015 ; 60 (4) : 433-440 Zocevic, A.,Rouillon, J.,Wong, B.,Servais, L.,Voit, T.,Svinartchouk, F. Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy Neuromuscul Disord, 2015 ; 25 (5) : 444-446 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 Richardson, R. S.,Wary, C.,Walter Wray, D.,Hoff, J.,Rossiter, H.,Layec, G.,Carlier, P. G. MRS Evidence of Adequate O2 Supply in Human Skeletal Muscle at the Onset of Exercise (+ response : 2481-2) Med Sci Sports Exerc, 2015 ; 47 (11) : 2299-307 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 Nunes, J. C.,Rinnenthal, J. L.,Allenbach, Y.,Lenze, D.,Hummel, M.,Johrens, K.,Walz, R.,Goebel, H. H.,Heppner, F. L.,Stenzel, W. Proximal weakness in a patient with MALT lymphoma: a case report and discussion of possible pathogenesis Neuropathol Appl Neurobiol, 2015 ; 41 (5) : 686-689 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 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 Azzabou, N.,Hogrel, J. Y.,Carlier, P. G. NMR based biomarkers to study age-related changes in the human quadriceps Exp Gerontol, 2015 ; 70 : 54-60 Aalbers, C. J.,Bevaart, L.,Loiler, S.,de Cortie, K.,Wright, J. F.,Mingozzi, F.,Tak, P. P.,Vervoordeldonk, M. J. Preclinical Potency and Biodistribution Studies of an AAV 5 Vector Expressing Human Interferon-beta (ART-I02) for Local Treatment of Patients with Rheumatoid Arthritis PLoS ONE, 2015 ; 10 (6) : e0130612 Kalman, B.,Monge, C.,Bigot, A.,Mouly, V.,Picart, C.,Boudou, T. Engineering human 3D micromuscles with co-culture of fibroblasts and myoblasts Comput Methods Biomech Biomed Engin, 2015 ; 18 Suppl 1 : 1960-1 Seferian, A. M.,Moraux, A.,Annoussamy, M.,Canal, A.,Decostre, V.,Diebate, O.,Le Moing, A. G.,Gidaro, T.,Deconinck, N.,Van Parys, F.,Vereecke, W.,Wittevrongel, S.,Mayer, M.,Maincent, K.,Desguerre, I.,Themar-Noel, C.,Cuisset, J. M.,Tiffreau, V.,Denis, S.,Jousten, V.,Quijano-Roy, S.,Voit, T.,Hogrel, J. Y.,Servais, L. Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial PLoS ONE, 2015 ; 10 (2) : e0113999 Reijnierse, E. M.,Trappenburg, M. C.,Leter, M. J.,Blauw, G. J.,Sipila, S.,Sillanpaa, E.,Narici, M. V.,Hogrel, J. Y.,Butler-Browne, G.,McPhee, J. S.,Gapeyeva, H.,Paasuke, M.,de van der Schueren, M. A.,Meskers, C. G.,Maier, A. B. The Impact of Different Diagnostic Criteria on the Prevalence of Sarcopenia in Healthy Elderly Participants and Geriatric Outpatients Gerontology, 2015 ; 61 (6) : 491-6 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 Zimon, M.,Battaloglu, E.,Parman, Y.,Erdem, S.,Baets, J.,De Vriendt, E.,Atkinson, D.,Almeida-Souza, L.,Deconinck, T.,Ozes, B.,Goossens, D.,Cirak, S.,Van Damme, P.,Shboul, M.,Voit, T.,Van Maldergem, L.,Dan, B.,El-Khateeb, M. S.,Guergueltcheva, V.,Lopez-Laso, E.,Goemans, N.,Masri, A.,Zuchner, S.,Timmerman, V.,Topaloglu, H.,De Jonghe, P.,Jordanova, A. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach Neurogenetics, 2015 ; 16 (1) : 33-42 Decorte, N.,Lamalle, L.,Carlier, P. G.,Giacomini, E.,Guinot, M.,Levy, P.,Verges, S.,Wuyam, B. Impact of salbutamol on muscle metabolism assessed by PNMR spectroscopy Scand J Med Sci Sports, 2015 ; 25 (3) : e267-73 Berger, A.,Lorain, S.,Josephine, C.,Desrosiers, M.,Peccate, C.,Voit, T.,Garcia, L.,Sahel, J. A.,Bemelmans, A. P. Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa Mol Ther, 2015 ; 23 (5) : 918-930

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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 : Marianne Perreau-Saussine ; 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