![]() Consistently, compound loss of muscleblind-like function reproduces cardinal features of DM such as reduced lifespan, heart conduction block, severe myotonia, and progressive muscle weakness Unfortunately, no treatment has yet been specifically developed for DM 1 despite intensive efforts. Indeed, overexpression of MBNLbnl could rescue disease-associated RNA missplicing and muscle myotonia in a DM mouse model that expresses 250 CTG repeat units from a human skeletal actin promoter (HSALR) (Kanadia et al. ![]() Therefore, boosting their expression is a potential therapeutic avenue. There is ample evidence that MBNL functions are the limiting factors in DM1. Loss of function of MBNL proteins triggers gene misregulation events at the level of transcription, translation, gene silencing, alternative splicing, and polyadenylation of subsets of transcripts. Toxic RNA retains RNA-binding proteins MBNL, that are thus depleted from their regular cellular targets. DM1 is a monogenic, autosomal dominant disease caused by an abnormal expansion in a region of the DMPK gene. CUG repeats aggregate forming ribonuclear foci, the disease hallmark. DM1 is a rare, progressive genetic disease that is estimated to affect more than 40,000 people in the United States and over 74,000 people in Europe. HER2 status was centrally assessed on available paired pre-neoadjuvant and surgical samples. The genetic cause of DM1 is well known, namely the accumulation of mutant transcripts containing expanded CUG repeats in the 3 'UTR of the DYSTROPHIA MYOTONICA PROTEIN KINASE ( DMPK) gene. The primary endpoint was invasive disease-free survival (IDFS). Neuropsychological dysfunction is also a common symptom of DM. ![]() It is highly disabling as it typically causes severe neuromuscular symptoms, including cardiac conduction defects, myotonia, and progressive muscle weakness and wasting (atrophy). It is the most common muscle dystrophy in adults and it is a highly disabling. DM1 is an autosomal dominant rare genetic disease with variable presentation. ![]()
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