Newsletter #61

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	Newsletter #61

Final collection of 92,740,769 euros for the Téléthon, thank you! Telethon 2016 reaches a final collection of 92,740,769 euros. This extraordinary mobilisation allows us to pursue the objective we set ourselves 30 years ago : to find a cure ! Thank you all! In April 2017, the team of Drs. Martine Barkats and Maria Grazia-Biferi, from the Institute of Myology will be awarded the Avi Kremer ALS Treatment Prize for their development of a gene therapy approach targeted at one of the most common known causes of inherited Amyotrophic Lateral Sclerosis (ALS). This approach significantly extends survival and slows disease progression beyond any results reported to date. We are pleased to share with you our inspiring interview with Dr Grazia Biferi, who tells us about this innovative approach and what this award will bring to her team.
At the Institute
M. Barkats and M. G. Biferi awarded the Avi Kremer ALS Treatment Prize from Prize4Life for their gene therapy approach Martine Barkats and Maria Grazia Biferi have received the Avi Kremer ALS Treatment Prize from Prize4Life, which is committed to the fight against Amyotrophic Lateral Sclerosis. Read more
SMA: SUNFISH trial begins in France at I-Motion The SUNFISH trial, an international phase II study of the splice-modifying drug RO7034067 in people with type 2 or 3 spinal muscular atrophy (SMA), begins in France. Read more
Our latest news
Pathogenic role of anti-SRP and anti-HMGCR antibodies in necrotising myopathies Investigators have examined the hypothesis that anti-SRP and anti-HMGCR antibodies may be involved in muscle damage. Read more
Correlation between PABPN1 genotype and disease severity in OPMD The genetic cause of OPMD is an expanded (GCN)n mutation in the PABPN1 gene. Here, the authors hypothesised a potential correlation between the size of the (GCN)n expansion and the severity of the phenotype. Read more
Resistant myasthenia gravis and rituximab This retrospective study shows that rituximab may be efficient in 50% of patients with MG resistant to immunosuppressants. Read more
Inflammatory myopathies: the interest of rehabilitation Not only is functional rehabilitation during inflammatory myopathies beneficial in terms of inflammation, but it also appears to result in functional improvement. Read more
Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System Exonic duplications account for 10%–15% of all mutations in Duchenne muscular dystrophy, a severe hereditary neuromuscular disorder. This study opens a novel therapeutic perspective for patients carrying disease-causing duplications. Read more
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion The authors identified two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated protein triple kinase ZAK. Read more
CRISPR/Cas9 technology: therapeutic implications for patients with DM1 Dual sgRNA-guided excision of the (CTG⋅CAG)n tract by CRISPR/Cas9 technology is applicable for developing isogenic cell lines for research and may provide new therapeutic opportunities for patients with DM1. Read more
More breaking news
Clinical features of DMD long-term survivors in Japan The national muscular dystrophy wards database of Japan lists 118 long-term Duchenne muscular dystrophy (DMD) patients who were at least 40 years old as of October 1, 2013. Read more
Pregnancy and delivery in women with spinal muscular atrophy This was a cross-sectional questionnaire-based study. The authors mailed questionnaires to 58 women with confirmed SMA. 32 women responded, reporting 35 pregnancies. Read more
Duchenne muscular dystrophy ACTN3 is a modifier of clinical phenotype in DMD Functional trajectory of drisapersen-treated DMD patients compared to a matched natural history cohort
Spinal muscular atrophy Comprehensive pan-ethnic SMN1 copy-number and sequence variation Endocytosis: major cellular mechanism perturbed in SMA Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage Feasibility of digital biomarkers as complementary outcome measures for clinical trials Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis
Other neuromuscular diseases The Letournel technique is an effective long-term solution in FSHMD dystrophy Validation of upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy A novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia Importance of store-operated Ca2+ entry in skeletal muscle physiology Diagnostic algorithm for patients presenting with myalgia, exercise intolerance, or fatigue Importance of correctly diagnosing Brown-Vialetto-Van Laere syndrome Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome Nemaline myopathy: importance of screening for myopalladin
In brief
Summer School of Myology 20th Edition The 20th Summer School of Myology will take place this year at the Institut de Myologie from Thursday 15th to Friday 23th, 2017. Read more
Pompe disease: new phase 3 clinical trial of neoGAA NeoGAA, a new generation of enzymotherapy developed by Sanofi Genzyme, will be tested in 96 patients with type 2 glycogenosis (Pompe disease). Recruitment of this trial is underway. Read more
YposKesi welcomes Alain Lamproye, an expert in industrial bioproduction, as its Chief Executive Officer YposKesi, the first French pharmaceutical company to develop and manufacture gene and cell therapy products for rare diseases, created by the nonprofit organization AFM-Téléthon and the SPI fund managed by Bpifrance, have announced the appointment of Alain Lamproye as its Chief Executive Officer. Read more
Latest Publications from the Institute
Kaplan, J C,Hamroun, D,Rivier, F,Bonne, G The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Neuromuscul Disord, 2016 ; 26 (16) : 895-929 Vilmont, V.,Cadot, B.,Vezin, E.,Le Grand, F.,Gomes, E. R. Dynein disruption perturbs post-synaptic components and contributes to impaired MuSK clustering at the NMJ: implication in ALS Sci Rep, 2016 ; 6 : 27804 Rudolf, A.,Schirwis, E.,Giordani, L.,Parisi, A.,Lepper, C.,Taketo, M. M.,Le Grand, F. beta-Catenin Activation in Muscle Progenitor Cells Regulates Tissue Repair Cell Rep, 2016 ; 15 (6) : 1277-90 Ducat, A.,Doridot, L.,Calicchio, R.,Mehats, C.,Vilotte, J. L.,Castille, J.,Barbaux, S.,Couderc, B.,Jacques, S.,Letourneur, F.,Buffat, C.,Le Grand, F.,Laissue, P.,Miralles, F.,Vaiman, D. Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia Sci Rep, 2016 ; 6 : 19196 Vilmont, V.,Cadot, B.,Ouanounou, G.,Gomes, E. R. A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77 Finsterer, J.,Wahbi, K. Cardiac disease in brain-heart disorders Acta Cardiol, 2016 ; 71 (4) : 389-94 Beyer, S.,Pontis, J.,Schirwis, E.,Battisti, V.,Rudolf, A.,Le Grand, F.,Ait-Si-Ali, S. Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. Erratum: Canonical Wnt signalling regulates nuclear export of Setdb1 during skeletal muscle terminal differentiation. [Cell Discov. 2016] Cell Discov, 2016 ; 2 : 16037 Bohm, M.,Wachtel, M.,Marques, J. G.,Streiff, N.,Laubscher, D.,Nanni, P.,Mamchaoui, K.,Santoro, R.,Schafer, B. W. Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma J Clin Invest, 2016 ; 126 (11) : 4237-4249 Lacour, F,Vezin, E,Bentzinger, F,Sincennes, M C,Rudnicki, M A,Mitchell, R D,Patel, K,Chaboissier, M C,Chassot, A A,Le Grand, F R-spondin1 regulates muscle progenitor cell fusion through control of antagonist Wnt signaling pathways bioRxiv, 2016 ; : 063669 Carmeille, R.,Bouvet, F.,Tan, S.,Croissant, C.,Gounou, C.,Mamchaoui, K.,Mouly, V.,Brisson, A. R.,Bouter, A. Membrane repair of human skeletal muscle cells requires Annexin-A5 Biochim Biophys Acta, 2016 ; 1863 (9) : 2267-79 Preskey, D.,Allison, T. F.,Jones, M.,Mamchaoui, K.,Unger, C. Synthetically modified mRNA for efficient and fast human iPS cell generation and direct transdifferentiation to myoblasts Biochem Biophys Res Commun, 2016 ; 473 (3) : 743-51 Holt, I.,Duong, N. T.,Zhang, Q.,Lam le, T.,Sewry, C. A.,Mamchaoui, K.,Shanahan, C. M.,Morris, G. E. Specific localization of nesprin-1-alpha2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody BMC Cell Biol, 2016 ; 17 (1) : 26 Santolini, M.,Sakakibara, I.,Gauthier, M.,Ribas-Aulinas, F.,Takahashi, H.,Sawasaki, T.,Mouly, V.,Concordet, J. P.,Defossez, P. A.,Hakim, V.,Maire, P. MyoD reprogramming requires Six1 and Six4 homeoproteins: genome-wide cis-regulatory module analysis Nucleic Acids Res, 2016 ; 44 (18) : 8621-8640 Servian-Morilla, E.,Takeuchi, H.,Lee, T. V.,Clarimon, J.,Mavillard, F.,Area-Gomez, E.,Rivas, E.,Nieto-Gonzalez, J. L.,Rivero, M. C.,Cabrera-Serrano, M.,Gomez-Sanchez, L.,Martinez-Lopez, J. A.,Estrada, B.,Marquez, C.,Morgado, Y.,Suarez-Calvet, X.,Pita, G.,Bigot, A.,Gallardo, E.,Fernandez-Chacon, R.,Hirano, M.,Haltiwanger, R. S.,Jafar-Nejad, H.,Paradas, C. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss EMBO Mol Med, 2016 ; 8 (11) : 1289-1309

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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: Nathalie Haslin. Do you have any questions? Would you like to share some news? Please contact us. © 2017 - AFM - Institut de Myologie. ISSN 1772-9866