Blog Archives
A natural microRNA spiked with small molecules to knock down DUX4 in FSHD
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]
Myasthenia gravis: launch of the MYaEX study
The Institute of Myology and AFM-Telethon have launched MYaEX, a large national survey regarding persons with myasthenia gravis, congenital myasthenic syndrome or Lambert Eaton myasthenic syndrome. The main objective of this study is to help to understand what determines the practice of physical exercise in these pathologies of the neuromuscular junction, and to identify the factors … [Read more]
Searching for protective factors against cancer risk in dermatomyositis
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]
Systemic injection of an optimized antisense oligonucleotide into an FSH mouse model appears to be effective
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]
A catalog of sodium channel variants to guide in the diagnosis of certain myotonic syndromes
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]
An innovative test for the genotyping of difficult cases of DMD and a better pathophysiological approach
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]
Gastrointestinal motility disorders may accompany dermatomyositis
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]
No beneficial effect of resveratrol in fatty acid oxidation disorders
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]
Positive anti-FHL1 antibodies in certain inflammatory myopathies
Australian and Swedish researchers have studied the immunological profile of patients with normal inflammatory myopathies (274) or scleroderma (174) and compared them with those of 100 control participants. The presence of autoantibodies directed against FHL1, a protein with four and a half LIM domains, already implicated in an X-linked hereditary myopathy, was more specifically sought. … [Read more]
A compilation of data on primary carnitine deficiencies
A review of the literature carried out by Dutch authors sheds light on the symptoms and signs, often disparate, associated with this metabolic disease discovered in 1973 and which, in certain countries, is the subject of screening. newborn: 757 patient observations were retained from 166 published articles; 20% had only a biochemical diagnosis which may … [Read more]
