Myology research highlights

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Point mutations in the PABPN1 gene in OPMD are no longer the domain of Europe

Oculopharyngeal muscular dystrophy (OPMD) is a muscular disease of very late onset, most often after the age of fifty, and which mainly results in slowly progressive damage to the muscles of the eyelids, face, pharynx and pelvic girdle. Inherited in an autosomal dominant mode, it is found on all continents with several clusters identified in … [Read more]

It’s not just sarcopenia after 65!

Sarcopenia is defined as a slowly progressive loss of diffuse muscle mass and strength with age. It is the visible part of genuine neuromuscular disease in almost 35% of people over 65 with muscle weakness or elevated CPKs. Type 2 myotonic dystrophy (DM2) and inclusion myositis (IBM) seem to be particularly frequent neuromuscular pathologies in … [Read more]

FKRP-related dystroglycanopathies: preclinical development of autologous cell therapy using a “universal” CRISPR / Cas9 approach

Exon 4 of the FKRP gene alone contains the entire coding sequence for the protein.  An American team has developed a CRISPR-Cas9 approach to replace the entire exon 4 in induced pluripotent cells of patients with muscular dystrophy linked to FKRP (Walker-Warburg syndrome, congenital muscular dystrophy, LGMD R9). This allowed the restoration of a functional … [Read more]

Symptom or not, family history or not, hyperCKemia in a girl should lead to search for a muscular dystrophy

Hereditary neuromuscular diseases are a common cause of persistent hyperCKemia. Duchenne and Becker muscular dystrophies (DMD, DMB), linked to mutations in the DMD gene, are the most common in boys. They can also affect girls, but the proportion of carriers of DMD gene abnormalities that are symptomatic (skeletal muscle and / or heart) remains unclear.  … [Read more]

A German study clarifies the risk and contraindications of cardiovascular drugs in Myasthenia gravis

Myasthenia gravis is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. Characterized by a varianility of the resulting muscle impairment and by the presence of a synaptic block on the electromyogram, this non-hereditary neuromuscular disease can get significantly worse with certain … [Read more]

The existence of variant triplets within the CTG repeats alleviates the severity of Steinert’s disease without affecting the effectiveness of cognitive behavioral therapy

A genetic analysis carried out in 250 people with Steinert’s disease (DM1) and who participated in the OPTIMISTIC study showed that 21 of them had variant triplets (CCG or CGG most often) interrupting the repeats of CTG triplets of the DMPK gene, involved in DM1.  This phenomenon is associated with a lower severity of the … [Read more]

Beneficial effect of gene therapy in model mice of LGMD R1 linked to calpain

Six gene therapy programs are under development in girdle myopathies (LGMD) at Sarepta Therapeutics, in collaboration with the Nationwide Chidren’s Hospital (Columbus, USA). They concern LGMD R1 linked to calpain, LGMD R5 linked to γ-sarcoglycan, LGMD R12 linked to anoctamine, LGMD R2 linked to dysferlin, LGMDR3 linked to α-sarcoglycan and LGMDR4 linked to β-sarcoglycan, the … [Read more]

A population study quantifies the weight of genes in the occurrence of myositis

Inflammatory myopathies (or idiopathic myositis) seem to arise, like other autoimmune diseases, on a predisposing genetic background. To assess the weight of genes, a team from the Karolinska Institutet in Stockholm used three national databases, exhaustive or nearly exhaustive, on the Swedish population, their family ties and their health care. It compared the 7,615 first-degree … [Read more]

Duplications of the SMN1 gene are associated with certain pathologies of the motor neuron

The SMN locus, located in humans in the 5q region, is the site of relative genomic copy number instability of two paralogous genes called SMN1 and SMN2. Deletion, balanced duplication or gene conversion are relatively frequent mutational events in this chromosomal region. While homozygous deletions of the SMN1 gene are well known to give rise … [Read more]

PXT3003 in CMT1A : the PREMIER clinical trial starts in France

The first French investigation center for the PREMIER trial has just opened: this is the CHU de la Timone in Marseille, which has just recruited the first European participant. Other French centers should also participate in this international phase III trial which started last March in the United States and will take place in Europe, … [Read more]