Blog Archives
18th meeting of the East Parisian MNM Reference Centre: PMA and parenthood – 23 June
The Reference Centre for Neuromuscular Diseases of Eastern Paris is organising its 18th meeting on the theme: Medically Assisted Reproduction and Parenthood – Clinical, Legal and Cultural Aspects. The meeting will take place on Friday 23 June 2023 – 9:00 am – 4:30 pm in the amphitheatre of the Institute of Myology. This event is … [Read more]
Base editing, under investigation in SMA
Two teams investigated the base editing technique to convert the SMN2 gene into the SMN1 gene: in cell models of SMA, the exchange of the different base of exon 7 of the SMN2 gene was successful (with minimal “off-target”), In SMA mouse models, SMN protein production is increased and motor function is improved, the life … [Read more]
M&M’s – Muscle Monday Seminar – 22 May – Michael Snyder (USA)
Transforming Healthcare Using Deep Data and Wearables May 22nd, 2023 – 16:00 – 17:00 Michael Snyder (USA, Stanford Medicine – Stanford University Chair, Dept. of Genetics (2009 – Present) ; Director, Center for Genomics and Personalized Medicine (2009 – Present)) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the presentation … [Read more]
NOTCH2NLC gene study in a large cohort of patients with CMT disease
Charcot-Marie-Tooth disease (CMT) is very heterogeneous both phenotypically and genetically. Japanese researchers studied 1783 CMT patients without a molecular signature and applied a sequencing technique called long-read: 26 patients belonging to 22 families had a pathological nucleotide expansion located in the NOTCH2NLC gene, this gene is known to give a distal oculo-pharyngeal myopathy, the authors … [Read more]
The relevance of genome editing coupled with cell therapy in the treatment of calpainopathies
German researchers have developed a cell therapy coupled with a CRISP-Cas9-based genome editing technique in a transgenic mouse with the c.550delA founder mutation in the homozygous state in the CAPN3 gene encoding calpain-3 (calpain-related LGMD-R1): the edited cells were able to re-express the calpain-3 protein transcripts in the normal state, demonstrating that genome editing was … [Read more]
A reliable biomarker to predict response to gene therapy in SMA
French clinicians from the Filnemus network report the results of a prospective study aimed at measuring the predictive value of muscle action potential amplitude (CMAP) coupled with a motor score in infants with spinal muscular atrophy (SMA) destined to receive gene replacement therapy. 13 symptomatic infants followed at the Necker Enfants Malades University Hospital (Paris) … [Read more]
Analysis of the largest cohort of patients with anoctaminopathy
An international multicentre study reports the results of the analysis of the characteristics of 234 patients with ANO5-related myopathy (limb-girdle muscular dystrophy type R12 or LGMD R12, distal muscular dystrophy type 3 or MMD3, ANO5-related pseudometabolic myopathy and asymptomatic hyperCKemia). The data collected included the following: all subgroups, except for pseudometabolic myopathy, show a male … [Read more]
Certain types of dermatomyositis are thought to protect against cancer risk
Dermatomyositis (DM) is generally a disease with an increased risk of developing neoplasia, hence the need for regular monitoring. Researchers from two US centres studied two cohorts of DM and compared them to other immune system diseases and healthy subjects: anti-CCAR1 autoantibody was exclusively detected in the serum of DM patients positive for anti-TIF1-gamma antibody … [Read more]
An ENMC workshop on dystrophinopathies in women
In May 2022, the European Neuromuscular Center (ENMC) brought together about 20 experts and patient representatives from all over the world to review the pathophysiology, prevalence and management of women with partial or complete dystrophin deficiency. Their conclusions and recommendations include: the need to abandon the term “transmitters” or “carriers” of Duchenne muscular dystrophy in … [Read more]
Ultrasound useful to assess respiratory effort in MFM patients: a case study
Myofibrillar myopathies (MFMs) are a small but fairly heterogeneous group of neuromuscular diseases characterised, at the histopathological level, by the accumulation of protein products which cause a disorganisation of the internal architecture of the muscle fibre network. Their clinical manifestations are varied, with distal muscle involvement and potentially lethal cardiac abnormalities being the most common. … [Read more]
