Myology research highlights
RSS feedInvolvement of DNA from mitochondria proven in a family with scapulo-peroneal syndrome
For the first time, and thanks to a family with several affected people, Canadian and Finnish researchers have provided evidence of the involvement of mitochondrial DNA in a scapulo-peroneal syndrome: the initial diagnosis was that of an atypical Charcot-Marie-Tooth disease without molecular signature, an exhaustive high-throughput sequencing (NGS) study had previously eliminated any anomaly in … [Read more]
Not all SMCHD1 gene variants give an FSH-compatible phenotype
Distinct mutations of the SMCHD1 gene are responsible for a form of facioscapulohumeral myopathy (FSH type 2) but also for an ultra-rare syndrome comprising abnormalities of the olfactory system such as arhinia, nasal hypoplasia or anosmia. American researchers collected clinical and genetic data from eleven patients with the latter syndrome: only three had a genotype … [Read more]
Farnesol is effective in laboratory models of CMT1A
• Korean researchers studied the effects of farnesol in Charcot-Marie-Tooth disease type 1A (CMT1A): • They showed that the molecule enhances myelination of axons by Schwann cells: in a cellular model of CMT1A, it promotes the expression of myelin genes. in a mouse model of CMT1A, it increases the number and diameter of myelinated axons as … [Read more]
International guidelines for diseases related to the VCP gene
On the initiative and with the support of the patient association concerned (Cure VCP Disease), a group of American experts worked on the development of recommendations for the diagnosis and management of people with abnormalities of the VCP gene: this gene is responsible for a clinical picture classically associating inclusion body myopathy, Paget’s disease and … [Read more]
Echocardiography 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]
