Blog Archives
Operation “1,000 researchers in schools in France and abroad”
Once again this year, scientific experts from the Institute of Myology, Genethon and I-Stem will travel from November 6th to December 1st in many colleges and secondary schools to help students better understand the latest scientific and medical advances and to make them discover the world of research. On the agenda, after a reminder of … [Read more]
The Institute of Myology celebrated Science Festival – October 14th- 15th, 2017
The Myology Centre for Research of the Institute of Myology participated in the 2017 Science Festival Fair on October 14th and 15th. On the Jussieu campus, the Myology Centre for Research was present on the stand: “Muscle in all its states”: researchers were able to share their knowledge with the support of posters explaining lab … [Read more]
3 questions to Karolina Aragon
Karolina Aragon, a polyglot physician in her thirties, recently joined the I-Motion team. Where do you come from and when did you arrive at the I-Motion Institute? I arrived in December 2016 from Poland. At the end of my medical studies in 2010, I spent a few years in my country, then I came to … [Read more]
CMT1A: identification of new biological markers
An international collaboration including researchers from the Institute of Myology identified 5 biological markers of the evolution and severity of CMT1A. Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for … [Read more]
Downregulation of the glial GLT1 glutamate transporter and Purkinje cell dysfunction in a mouse model of DM1
Brain function is compromised in myotonic dystrophy type 1 (DM1), but the underlying mechanisms are not fully understood. To gain insight into the cellular and molecular pathways primarily affected, the authors studied a mouse model of DM1 and brains of adult patients. They found pronounced RNA toxicity in the Bergmann glia of the cerebellum, in … [Read more]
Institute seminar – September 18th – Prof. Yosef Gruenbaum
Regulation of nuclear mechanics in health and disease states Monday September, 18th 2017 – 12:00 – 13:00 Prof. Yosef Gruenbaum (Department of Genetics, The Alexander Silberman institute of Life Sciences, Mathilda Marks-Kennedy Chair in Biochemistry, The Hebrew University of Jerusalem – Currently in Department of Biochemistry, University of Zurich) Institute of Myology auditorium Hôpital de … [Read more]
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy
Previously, detection of ANO5 protein has been complicated by unspecific antibodies, most of which have not identified the correct protein. The aims of the study were to specify ANO5 protein expression in human skeletal muscle, and to investigate if the ANO5 protein levels are affected by different ANO5 mutations in anoctaminopathy patients. Four different antibodies … [Read more]
Diaphragmatic dysfunction in SEPN1-related myopathy
SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency. The aim of the study was to characterize the mechanisms of respiratory dysfunction in SEPN1-RM patients. Breathing pattern and respiratory muscle strength were measured by means of esophageal (Pes) and gastric (Pgas) pressures. Seven patients aged 7-55 … [Read more]
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice
Dysferlinopathy is an autosomal recessive muscular dystrophy characterized by the progressive loss of motility that is caused by mutations throughout the DYSF gene. There are currently no approved therapies that ameliorate or reverse dysferlinopathy. Gene delivery using adeno-associated vectors (AAVs) is a leading therapeutic strategy for genetic diseases; however, the large size of dysferlin cDNA … [Read more]
World Duchenne Awareness Day 2017
September 7 is World Duchenne Awareness Day, the opportunity to highlight the disease. More than 30 years after the discovery of the gene responsible for the disease, treatments are advancing. The AFM-Telethon’s emblematic disease. Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in children. The Telethon’s adventure began with DMD. Yolaine de Kepper, … [Read more]
