Blog Archives
MicroRNAs as potential noninvasive biomarkers in SMA
The identification of noninvasive biomarkers to monitor the disease progression in spinal muscular atrophy (SMA) is becoming increasingly important. MicroRNAs (miRNAs) regulate gene expression and are implicated in the pathogenesis of neuromuscular diseases, including motor neuron degeneration. In this study, the authors selectively characterized the expression of miR-9, miR-206, and miR-132 in spinal cord, skeletal … [Read more]
Identification of 7 target genes as potential SMA targets using integrative transcriptomic analysis
Spinal muscular atrophy (SMA) affects multiple organ systems with varying degrees of severity. Exploration of the molecular pathological changes occurring in different cell types in SMA is crucial for developing new therapies. This study collected 39 human microarray datasets from ArrayExpress and GEO databases to build an integrative transcriptomic analysis for recognizing novel SMA targets. … [Read more]
Antoine Muchir, a researcher from the Institute involved in Telethon 2016
Antoine Muchir works at the Myology Centre for Research in Gisele Bonne’s team and will represent the Institute of Myology during the event. You will be actively involved in the next Telethon, have you ever participated to this event ? I have been involved in the Telethon for the past couple of decades. During my … [Read more]
Summer School of Myology 2016
The 19th Summer School of Myology took place at the Institue of Myology from 23rd June to 1st July. Fifty three students completed courses, nearly as much as our record numbers last year. Amongst some 26 nationalities represented, a majority of Latin people : 3 comme from Brazil, 4 from Argentina, 2 from Mexico, 2 … [Read more]
Classifying trajectories of ambulatory function in DMD patients
High variability in patients’ changes in 6-minute walk distance (6MWD) over time has complicated clinical trials of treatment efficacy in Duchenne muscular dystrophy (DMD). To objectively characterise the natural history of 6MWD in DMD, the present study sought to classify patients based on their trajectories of ambulatory function over time. Ambulatory boys aged 5 … [Read more]
ActRIIB blockade: a potential treatment approach to reverse dystrophic muscle degeneration?
Postnatal blockade of the activin type IIB receptor (ActRIIB) represents a promising therapeutic strategy for counteracting dystrophic muscle wasting. However, its impact on muscle function and bioenergetics remains poorly documented in physiologic conditions. This study investigated totally noninvasively the effect of 8-wk administration of either soluble ActRIIB signaling inhibitor (sActRIIB-Fc) or vehicle PBS (control) … [Read more]
High risk of vertebral fractures and deflazacort use in DMD patients
Corticosteroids are widely used in the management of patients with Duchenne muscular dystrophy (DMD). They improve quality of life in these patients by prolonging ambulation and preserving cardiorespiratory status. However, corticosteroid treatment is associated with a decrease in bone mineral density (BMD) and an increased risk of vertebral fractures (VF). The purpose of this … [Read more]
Expanding the phenotypic spectrum for COL12A1 disorders
Mutations in the COL12A1 gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function). The authors describe an 8-year old girl of Polish origin who presented with … [Read more]
From 40% of dystrophin expression, muscle condition is improved
Team 5 from the Institute of Myology Centre of Research, “RNA-repair based therapeutic strategies and skeletal muscle pathophysiology” directed by France Piétri-Rouxel, demonstrated that a minimum level of 40% of dystrophin is necessary both to recover strength and to improve muscle general condition. How did you obtain these results? Our team has a long-standing interest … [Read more]
Development of a HRQL questionnaire: Phase 1
This qualitative study describes the development of a health-related quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular disease (NMD) such as myopathies and muscular dystrophies. To ensure adequate representativeness in terms of severity, three types of focus groups were formed: (1) Patients able to walk (WP). (2) Patients using a wheelchair (WCP). … [Read more]
