Newsletter #71

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	Newsletter #71

The Institute of Myology wishes you a successful 2019 Welcome to the first issue of our newsletter for the new year! Victory was the theme of the 2018 Telethon and the Institute of Myology can be proud of its own victories, which undoubtedly contribute to the whole. The year 2018 has been rich in progress and the institute is proud of every step taken and of the road traveled in all the fields of its activities going from research to the care while passing by the evaluation, the diagnosis and without forgetting teaching. All our talents will be more than necessary to win the battle, the battle against the disease and its ravages. Let’s hope that 2019 also has some great victories!
At the Institute
ERN-Euro-NMD, a major European health network coordinated by T. Evangelista Teresinha Evangelista is a clinical neurologist and a researcher at the Morphological unit of the Institute of Myology. She has just been reappointed as coordinator of the ERN-Euro-NMD Neuromuscular Disease Network. It brings together 61 healthcare providers (HCP) located in 14 European countries, including 8 centers in France. Read more
Two trials on DMD just started at I-Motion The first I-Motion patient for Wave's OLE phase was screened on January 7th. Still in Duchenne muscular dystrophy, the first patient of the institute was screened at the end of December in the Anti-myostatin study. Read more
Marie Gaille at the Institute’s Ethics Meetings – 19th March Next Ethics Meeting of the Institute of Myology will be held on 19th March. Marie Gaille (Centre de recherche sens, éthique, société, CNRS Paris Descartes University) will speak on "Genomics, genetic diagnosis, predictive medicine, our humanity at the time of high throughput sequencing". France Leturcq (Molecular Biology and Genetics, Cochin Hospital) will be at her side as a discussant. Read more
Our latest news
A functional human motor unit platform engineered from human embryonic stem cells and immortalized skeletal myoblasts Immortalized human myoblasts were co-cultured with hESCs derived committed NPCs. Over the course of the 7 days myoblasts differentiated into myotubes and NPCs differentiated into motor neurons. Read more
Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle The authors show that dynamin 2 whose mutations cause centronuclear myopathy (CNM), regulates both clathrin plaques and surrounding branched actin filaments while CNM-causing mutations lead to desmin disorganization in a CNM mouse model and patient biopsies. Read more
Comprehensive evaluation of structural and functional myocardial impairments in BMD using quantitative CMR imaging In BMD Patients, myocardial involvement is frequent, eventually progressing to a dilated cardiomyopathy, and represents the most common cause of death for this pathology. Read more
Histopathological patterns and structural alterations in titin-related myopathies Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. The authors performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes. Read more
Reducing dynamin 2 corrects DNM2-related dominant centronuclear myopathy Centronuclear myopathies are a group of severe muscle diseases for which no effective therapy is currently available. Read more
Pathogenicity of IgG from patients with anti-SRP or anti-HMGCR autoantibodies The pathological role of anti-SRP and anti-HMGCR autoantibodies was demonstrated in 2017 in vitro in muscle biopsies of patients with necrotizing myopathy: impairment of muscle regeneration and atrophy of the muscle fiber. Read more
More breaking news
AAV CRISPR editing rescues cardiac and muscle function for 18 months in dystrophic mice AAV-mediated CRISPR editing is a revolutionary approach for treating inherited diseases. The authors treated 6-week-old mice intravenously and evaluated disease rescue at 18 months. Read more
The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with SMA RG7800 is an oral, selective SMN2 splicing modifier designed to modulate alternative splicing of SMN2 to increase the levels of functional SMN protein. Read more
Duchenne muscular dystrophy Injection site reactions after long-term subcutaneous delivery of drisapersen Off-label use of Ataluren in non-ambulatory nmDMD patients Micro-utrophin improves cardiac and skeletal muscle pathology in D2/mdx mice Xanthine oxidase is hyper-active in DMD Neurodevelopmental needs in DMD
Spinal muscular atrophy ALS and SMA are linked via the ASC-1 complex A Phase trial of a SMN2 splicing modifier, risdiplam Ultrasound-guided cervical puncture for nusinersen administration in adolescents
Mitochondrial myopathies Whole exome sequencing: a comprehensive and unbiased approach to establish a genetic diagnosis in patients with a likely mitochondrial disorder Rapamycin rescues mitochondrial myopathy
Metabolic myopathies Differential diagnosis of inflammatory and metabolic myopathies Late-onset Pompe disease: the Swiss experience indirectly confirms the efficacy of enzyme replacement therapy
Other neuromuscular diseases and basic research Is the 2-minute walk test an effective alternative to a 6-minute walk test? A National French consensus on gene lists for the diagnosis of myopathies using NGS Effects of long-term respiratory muscle endurance training on respiratory and functional outcomes in patients with Myasthenia gravis CMS in adult neurology clinic: A long road to diagnosis and therapy Seronegative IMNM: a subgroup with distinctive features from seropositive IMNM
In brief

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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; Bertrand Fontaine. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2019 - AFM - Institut de Myologie. ISSN 1772-9866