Blog Archives
A review of the involvement of Dynamin 2 in cancers sheds light on a promising therapeutic target
Dynamin 2 (DNM2) is a large ubiquitously expressed GTPase, well known for its role in vesicle formation in endocytosis and intracellular membrane trafficking, also acting as a cytoskeletal regulator. In this review of the literature, two researchers from the Myology Centre for Research* of the Institute of Myology recall that over the past two decades, … [Read more]
“1000 researchers in schools” – November 8-December 3
This year, the 9th edition of the scientific information operation for 3rd year and high school students “1000 researchers in schools in France and abroad” will take place between November 8 and December 3. The 8 previous editions gave rise to just over 8,000 interventions by the scientific experts of the AFM-Telethon throughout France, for … [Read more]
Advances in research : two new documents are available
« Advances in Steinert’s disease » and « Advances in myotonic dystrophy type 2 » are two new documents, published by the French Muscular Dystrophy Association (AFM-Téléthon), which can be downloaded. Steinert’s disease or myotonic dystrophy type 1 is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and … [Read more]
Assessment of energy metabolism and blood flow by NMR during and after exercise
Interview with Alfredo Lopez Kolkovsky, researcher from the NMR Imaging and Spectroscopy Laboratory at the Neuromuscular Investigation Centre of the Institute of Myology, jointly managed by H. Reyngoudt and B. Marty. He is the first author of an article* published in the journal Magnetic Resonance in Medicine on the assessment of energy metabolism and blood flow by … [Read more]
A Chinese study on the natural history of paediatric LAMA2 muscular dystrophy
A Chinese multicentre study (covering 9 regions) describes the clinical course and phenotype-genotype correlations of a cohort of children with LAMA2 muscular dystrophy, 116 congenital forms with a median age of 6.4 years (0.3 to 27.3 years) at the last visit, 14 girdle forms (LGMDR23) with a median age of 8.2 years (3.2 to 27 years) at the last visit. The … [Read more]
Study of the day-to-day life impact of autoimmune myasthenia gravis from the patient’s point of view
Myasthenia gravis (MG) is a rare, chronic disease mediated by immunoglobulin G antibodies that causes crippling muscle weakness. As with most rare diseases, there is little self-reported data to understand and meet their needs. This study explores the impact of MG on the day-to-day lives of patients. This prospective, observational, digital longitudinal study, lasting 2 … [Read more]
Analysis of high-throughput digital images reveals distinct patterns of dystrophin expression in patients with dystrophinopathy
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys while Becker’s muscular dystrophy (BMD), a milder and less progressive allelic variant, is much rarer. Both are recessive diseases linked to the X chromosome with, in one case, a complete absence of dystrophin (DMD) and in the other, a partial deficiency of dystrophin … [Read more]
Sexual dysfunction more common in myasthenia gravis
Sexual dysfunction includes problems related to sexual activity: libido, stimulation, painful intercourse, reduced satisfaction and orgasmic disorders, etc. A Chinese observational study evaluated the frequency of these disorders in 319 participants, including 158 patients with myasthenia gravis (52 males and 106 females), and 161 unaffected controls, mean age 41.82 ± 10.44 years. The participants were asked to complete questionnaires, on … [Read more]
Development of an animal model for BIN1-linked centronuclear myopathy provides proof of concept for the efficacy of an antisense oligonucleotide targeting DNM2
The team from the Institute of Genetics and Molecular and Cellular Biology (Strasbourg) has developed a viable mouse model of centronuclear myopathy, defective of the BIN1 gene selectively in muscles. BIN1 encodes amphiphysin 2, a protein that controls the curvature of membranes. Dynamin 2 is an effector protein of amphiphysin 2, encoded by DNM2. Injection … [Read more]
The prevalence of non-hereditary rod-shaped myopathy in adults is arguably underestimated
The nemaline-myopathies are well known to pediatricians because of a revelation most often neonatal or in the first months of life. However, it is also found in adults, who suffer from a non-hereditary form with late onset. This form is referred to by the acronym SLONM (for Sporadic Late Onset Nemaline Myopathy). It results in … [Read more]
