Myology research highlights

Whole genome sequencing of a brother and sister with an adult-onset form of SMA without mutation in the SMN1 gene revealed a compound heterozygous mutation in the CAPN1 gene. It encodes calpain 1, a ubiquitous calcium-dependent protease. The first signs (painless muscle weakness, tendency to fall, cramps in the upper and lower limbs after exercise) … [Read more]

Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease caused by mutations in the SMN1 gene resulting in a decreased expression of the ubiquitous SMN protein. Given the crucial role of this SMN protein in the biogenesis of spliceosomal snRNPs (small nuclear ribonucleoproteins), the deficiency of this protein is correlated with numerous splicing alterations in … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD or FSH) is characterized by an aberrant expression of the DUX4 gene. To prevent it, in a gene silencing approach, a therapeutic avenue consists in specifically binding the messenger RNA of DUX4 to synthetic RNAs of the complementary siRNA or miRNA type.  In the United States, a team of gene therapy … [Read more]

American researchers were interested in patients with dermatomyositis who did not develop cancers in addition to their muscle disease. Their immunological profile has been studied in the hope of identifying cancer risk factors other than the already known one of anti-TIF1-g autoantibody positivity: 10 new autoantibodies have been identified in two distinct cohorts of patients … [Read more]

Facioscapulohumeral dystrophy (FSH) is one of the most common myopathies. There are two forms, FSH1 and FSH2. In both cases, the DUX4 gene is abnormally expressed in the muscles.  In an effort to inhibit DUX4, Canadian researchers have optimized antisense oligonucleotides by coupling them to a peptide that favors their penetration into muscle cells. This optimized … [Read more]

An international consortium of researchers has catagorized, based on literature data, the biophysical and genetic characteristics of 437 sodium channel variants known to date (including the sodium channel encoded by the SCN4A gene): 79 of them were related to a muscular phenotype (corresponding to a myotonic syndrome in most cases), 141 variants corresponded to epileptic … [Read more]

Italian researchers have developed, in conjunction with the Perkin-Elmer laboratory, a test based on RNA sequencing (RNA-seq) to detect and interpret the pathogenic nature of certain variants of the DMD gene encoding the dystrophin on simple urine samples: the test analyzes DMD gene transcripts present in stem cells detectable in small amounts in urine; the … [Read more]

Publishing a study on a case, a team of Texan internists recalls the possibility of various digestive motor disorders in dermatomyositis: proximal dysphagia (pharynx and upper third of the esophagus), relatively common in inflammatory myopathies (25 to 50% of cases), linked to damage to the striated muscles; distal dysphagia due to damage to smooth muscles, … [Read more]

Resveratrol has been studied in a randomized, placebo-controlled, cross-over clinical trial. Organized jointly by French, Danish and Dutch, the study aimed to measure possible positive effects in several fatty acid oxidation disorders, some of which have muscle expression (carnitine palmitoyltransferase type II or CPTII deficiency): eight patients participated in the study, which took place over … [Read more]