Myology research highlights
RSS feedEchocardiography and renin-aldosterone interaction as predictors of death in COVID-19
COVID-19 has caused millions of deaths primarily caused by an inappropriate systemic inflammatory response to SARS-CoV-2 and progression to refractory hypoxemia, leading to acute respiratory distress syndrome. Cardiac lesions, including increased biomarkers, pulmonary embolism, and impaired ventricular function on echocardiography have also been associated with increased mortality. Furthermore, SARS-CoV-2 uses the receptor for angiotensin-converting enzyme … [Read more]
Muscle cells of patients with sporadic ALS secrete neurotoxic vesicles
Amyotrophic lateral sclerosis (ALS) is characterized by motor neuron (MN) degeneration leading to its death. While the cause of MN death is unknown, one hypothesis is that its cellular environment may play a key role in its survival. However, in ALS, circulating extracellular vesicles that can transport toxic elements to the astrocytes are observed, and … [Read more]
Review of the advances in understanding the pathophysiology of autoimmune disorders in NMJ
Autoimmune disorders of the neuromuscular junction (NMJ) are characterized in particular by fatigue and muscle weakness. While there are many immunosuppressive treatments, there is no cure for these disorders and patients must live with crippling muscle weakness. The pathophysiology of these autoimmune diseases has made great progress thanks to: recent advances in understanding the structure … [Read more]
Steinert disease: Mexiletine is not effective for walking but for myotonia
Steinert disease (DM1) is one of the most common neuromuscular diseases in adults. It affects both muscles and others organs such as heart, eye, endocrine system, digestive tract or nervous system… Cardiac complications are one of the most serious manifestations, with a significant risk of sudden death in the absence of prophylactic treatment. Myotonia, especially … [Read more]
New type of histological abnormalities in congenital nemaline myopathies
French clinicians report, in five patients with congenital rod myopathy (also called nemaline), histological lesions in the form of dense protein masses: none of the patients were related, in three of them pathological variants of the NEB gene encoding nebulin were identified, in another, the TPM2 gene encoding tropomyosin-2 was involved, the clinical phenotype was … [Read more]
Phenylbutyrate restores dysferlin localization and membrane repair in cellular and animal models of dysferlinopathies
Missense mutations account for 30 to 40% of abnormalities responsible for dysferlinopathy. They generate abnormal, misfolded and unstable dysferlins, which can result in an absence of dysferlin at the plasma membrane in immunocytochemistry. An international team has developed a technique based on flow cytometry to measure the amount of dysferlin localized to the cell membrane … [Read more]
Calpain 1 gene involved in spinal muscular atrophy type 4 unrelated to SMN1
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]
Splicing efficiency of minor introns in a mouse model of SMA
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]
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]
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]
