Newsletter #91

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	Newsletter #91

Myology 2022 & mitoNice - 12th-17th Sept. 2022 Two congresses aiming to take stock of fundamental research and innovative therapies organised by the AFM-Telethon will take place in Nice (France) in September: Myology 2022, the 7th international myology congress on muscle and neuromuscular diseases will be held from 12th to 15th September 2022 and mitoNice, specifically dedicated to mitochondrial medicine, from 15th to 17th September. A joint session in the afternoon of September 15th will ensure the transition between the two congresses. Myology 2022 will bring together nearly 1000 international myology experts. Researchers, clinicians, students, biotech companies, industrialists and international patient associations are expected to share the latest scientific, clinical and therapeutic advances during plenary sessions, parallel sessions, industrial symposia and a poster session. The congress will be chaired by Elizabeth McNally, Director of the Center for Genetic Medicine at Northwestern University Feinberg School of Medicine in Chicago (USA) and Shahragim Tajbakhsh, Director of the Stem Cells and Development Unit at the Institut Pasteur in Paris. mitoNice 2022 will then bring together international experts on mitochondria and its diseases and will be chaired by Véronique Paquis-Flucklinger, Director of the Genetic Department at the University Hospital of Nice, and Valerio Carelli, Director of the Neurogenetics Laboratory at the University of Bologna Medical School. Further details on Myology 2022 program Further details on mitoNice program Registration for both congresses is open at the early bird rate until 15th June 2022.
At the institute
3-year study of lower limb muscles in patients with dysferlinopathy using MRI and 31P NMR spectroscopy Dysferlinopathy is a neuromuscular disease characterized by an active inflammatory and degenerative process ultimately leading to muscle fiber necrosis and replacement of muscle by fibrous and fatty tissue. Read more
Endothelin: a new player in muscle fibrosis Researchers from the institute were interested in the cellular and molecular mechanisms that lead to fibrosis in human muscle, in this case the pharynx, and more particularly on the role of non-myogenic human cells, called fibro-adipogenic progenitors (FAPs), in this process. Interview with Capucine Trollet. Read more
Launch of the 1st European gene therapy clinical trial in LGMD linked to FKRP This multi-centre phase 1-2 study aims to evaluate the safety, pharmacodynamics, efficacy and immunogenicity of GNT0006, an AAV vector carrying the human FKRP transgene. It will take place in three countries, Denmark, Great Britain and France, where patients will receive the drug candidate and be monitored at the Institute of Myology. Read more
The institute was present at the 14th MGFA International Conference on Myasthenia and Related Disorders Ten researchers and students from the institute presented their work in Miami from 10 to 12 May during 5 oral presentations and 5 posters. They were mainly members of the MCR's "Myasthenia Gravis: etiology, pathophysiology & therapeutic approach" team, but also of the MCR's “Neuromuscular Connectivity in Health & Diseases“ and NIC's Neuromuscular Physiology and Evaluation Laboratory. Read more
Researchers from the Institute’s NMR laboratory at the ISMRM 2022 conference The 31st ISMRM (International Society for Magnetic Resonance in Medicine) congress was held in London from 7 to 12 May 2022. Researchers from the NMR Imaging and Spectroscopy Laboratory were able to present their results during several sessions, via digital posters and an oral presentation. Read more
€ 68,000 raised through the HOPE dance gala On 18 May Laura Arend, Christian Arend and Charlotte Ranson presented the Institute with the generous sum of €68,000 that was raised through the HOPE dance gala dedicated to muscle research. Orchestrated by Laura, Charlotte and their companies, the show took place last October at the Casino de Paris. Read more
AcadeMYO 2022: registration opens on 1st June AcadeMYO, the digital version of the Summer School of Myology, will take place from 11 to 13 July 2022. Registration will be possible from June 1st on the AcadeMYO website. Read more
Our latest news
Gene therapy extinction of the dominant centronuclear myopathy mutation is still effective one year later in mice One year after a single injection of an AAV-shRNA specific to the mutation, restoration of the muscle phenotype is complete and the decrease in the level of mutated transcripts was maintained. Read more
Andersen-Tawil syndrome: phenotypical variability and atypical presentations in a French cohort Andersen-Tawil syndrome (ATS) is a rare muscle channelopathy linked to mutations in the KCNJ2 gene. This syndrome combines to varying degrees the clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphic syndrome. The muscle phenotype is still being characterised. Read more
Overexpression of BIN1 proves successful in the mouse model of DNM2-related centronuclear myopathy The interaction of amphiphysin 2 (encoded by the BIN1 gene) and dynamin 2 (encoded by the DNM2 gene) is necessary for membrane fission : amphiphysin 2 triggers the formation of the membrane tubule by inducing a bending of the membrane and dynamin 2, by binding to it, then causes the tubule to fission. Read more
New roles for CaVβs subunits in the regulation of gene expression and cellular homeostasis Researchers from the Institute have compiled data from 49 articles in this review. They summarised the latest discoveries, including an important study published by their team, concerning the new roles of CaVβ auxiliary subunits, in particular their direct or indirect involvement in the regulation of gene expression in different cellular contexts. Read more
Effects of Prox1 overexpression in mdx dystrophic muscle Although overexpression of Prox1 (Prospero-linked homeobox factor 1) increases the beneficial effect of chronic exercise on muscle fragility in mdx mice, it reduces absolute maximal strength. Read more
More breaking news
The time to diagnosis of DMD has not shortened in the US in the last 20 years It still takes 2.2 years from the first signs of the disease to the confirmation of the genetic diagnosis of Duchenne muscular dystrophy (DMD). This is the finding of a study by the MD STARnet. Read more
A fourth gene involved in a form of oculo-pharyngo-distal myopathy, OPDM type 4 Chinese researchers have identified a new gene responsible for an ultra-rare form of oculo-pharyngo-distal myopathy. It joins three other genes, LRP12, GIPC1 and NOTCH2NLC, which have in common that they are linked to the same pathological nucleotide expansion of the CGG type. Read more
Duchenne & Becker muscular dystrophies Home spirometry monitoring doubly useful in DMD Ataluren administered to four women with DMD is well tolerated and stabilises the disease Early action to prevent obesity in DMD An inconclusive randomised trial of air-stacking in DMD Epilepsy and Duchenne and Becker muscular dystrophies
Charcot-Marie-Tooth disease Farnesol is effective in laboratory models of CMT1A Growing number of gene therapy approaches in CMT Digenism is not a rare phenomenon in CMT A new sequencing technique facilitates the diagnosis of CMT linked to the SORD gene International guidelines for the management of CMT in children
Spinal muscular atrophy SMA type 1: impairment of bulbar functions persists under nusinersen even though motor functions progress The variations of the MFM32 seen by the patient with SMA Searching for biomarkers in Jokela SMA Beware of botulinum toxin injections in SMA
Facioscapulohumeral myopathy Not all SMCHD1 gene variants give an FSH-compatible phenotype One thousand patients were genetically diagnosed with FSH in China between 2001 and 2020 FSHD: respiratory impairment is usually stable but should be closely monitored in severe progressive forms Are patient and physician assessments consistent in FSHD?
Myasthenia gravis MuSK-related myasthenia prone to myotonic phenomena? What is the value of video-oculography in myasthenia gravis?
Limb-girdle muscular dystrophies LGMD R1: a study reports clinical and genetic data in Indian patients and confirms the characteristics usually described Encouraging preliminary results from the BBP-418 (ribitol) trial in FKRP-related LGMDR9
Basic research and other disorders Involvement of DNA from mitochondria proven in a family with scapulo-peroneal syndrome No benefit to treat dermatomyositis or polymyositis specifically with branched chain amino acids Ciprofibrate or bezafibrate combined with choline reduces myocyte damage in the mouse model of megaconic CMD International guidelines for diseases related to the VCP gene Triheptanoin does not improve physical performance in people with Tarui disease A possible beneficial effect of gentamycin in plectin-related myopathy RYR1-related congenital multi-minicore myopathy: proof of concept in mice for a pharmacological treatment targeting epigenetic changes Late-onset MADD: a polymorphic clinical picture that responds to riboflavin
In brief
Genethon joins U.S. Bespoke Gene Therapy Consortium dedicated to finding treatments for ultra-rare diseases Genethon is the only European non-profit research organization in the BGTC. The consortium is a public-private partnership bringing together the resources of the U.S. NIH and FDA with biopharmaceutical companies and other non-profit groups. The goal is to speed development of customized (or bespoke) gene therapies for millions of people worldwide suffering from ultra-rare diseases. Read more
An ENMC workshop on anesthesia in NMD According to the preliminary results of a survey conducted in Canada, the Netherlands and the United Kingdom, and presented at the ENMC workshop, only 28% of neurologists and 59% of anesthesiologists believe that anesthesia residents are good or very well trained in these risks. Read more
Upcoming webinar organized by EURO-NMD Upcoming webinar organized by the European network EURO-NMD: 16th June, "Jaw malformations and teeth malpositions in Neuromuscular Disease" by Prof. Dr. Stravos Kiliardis, PhD. Read more
WMS 27 - 11th-15th October 2022 - Halifax, Canada The 27th International Hybrid Annual Congress of the World Muscle Society that will take place 11th – 15th October 2022, in Halifax, Nova Scotia, Canada. Read more
7th International TREAT-NMD Conference - 7th-9th December 2022, Vancouver, Canada The 7th International TREAT-NMD Conference will be taking place on 7th-9th December 2022, Vancouver, Canada. Read more
Job opportunities The Institute of Myology is recruiting an Accountant, a Histopathology platform manager and is offering post-doctoral positions in Physiology and Cell Biology, and in Muscle Cell Biology. Read more

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Legal This newsletter is about the medical-scientific actuality of the Association Institute of Myology. It is published every two months. Chief Editor: Vincent Varlet. Editorial Board: Fabrice Chrétien; Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Also participate: Lawrence Chamber. Do you have any questions? Would you like to share some news? Please contact us. © 2022 - AFM - Association Institut de Myologie. ISSN 1772-9866 You are receiving this email because you have subscribed to the Association Institute of Myology’s newsletter. You no longer wish to receive our newsletter? You can unsubscribe from our mailing list by clicking here.