1. DM1 (Myotonic Dystrophy Type 1): DM1 is a genetic disorder characterized by progressive muscle wasting and weakness. It is an autosomal dominant condition caused by an expanded CTG trinucleotide repeat in the DMPK gene. Individuals with DM1 may experience myotonia (prolonged muscle contraction), weakness in facial and distal muscles, cardiac issues, and intellectual impairment.   2. DM2 (Myotonic Dystrophy Type 2): Similar to DM1, DM2 is an autosomal dominant …

more

  Personal take on this article: The article discusses the role of chronic inflammation in worsening Duchenne Muscular Dystrophy (DMD), a condition where muscle weakness occurs due to the lack of a protein called dystrophin. Despite treatments that try to restore dystrophin, inflammation continues, highlighting the need for research models that can help understand and treat this persistent inflammation. The study focuses on certain microRNAs (miRNAs), named inflamma-miRs, that contribute …

more

Personal take on this article: Becker muscular dystrophy (BMD) is a genetic disease that affects muscles, caused by mutations in the dystrophin gene. It's not as severe as Duchenne muscular dystrophy (DMD), but there aren't many treatments available for BMD. This is partly because there's no good mouse model for studying the disease and testing potential treatments before trying them on people. To address this, researchers created a mouse model …

more

Personal take on this article:   Researchers studied the turnover of dystrophin and dystroglycan complex (DGC) proteins in mice with Duchenne Muscular Dystrophy (DMD) after receiving exon skipping therapy. Exon skipping therapies, such as Eteplirsen, Golodirsen, Viltolarsen, and Casimersen, have received accelerated approvals from the FDA for DMD. However, these therapies have shown variable and often insufficient levels of restored dystrophin protein in patients, limiting their effectiveness. To understand the …

more

Personal take on this article: A potential therapy for a specific type of muscular dystrophy (LGMD2B), caused by mutations in the DYSF gene leading to reduced dysferlin protein levels, involves membrane stabilization. Dysferlin is crucial for repairing the membrane of healthy muscle fibers, and its deficit results in chronic muscle inflammation. In this study, the researchers compared the effects of two steroids, prednisolone and vamorolone (VBP15), on repairing dysferlin-deficient muscle …

more