Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity

Myotonic dystrophy type 1 is a progressive hereditary disease mainly affecting muscles, eyes, brain, among other tissues, which impact patient´s daily lives. Although there is no cure for the disease, much progress is being done to find a treatment. For this, it is required to identify biomarkers, which are molecules or compounds that indicates something about the state of the disease and allow to evaluate the efficiency and efficacy of possible treatments. In this study, we identify new biomarkers in blood and muscle from patients that could be used to analyze the progression of the disease and evaluate possible treatments. (By Dr. Fernando Morales, https://jmg.bmj.com/content/early/2025/10/28/jmg-2025-110919 )

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