Fig. 1 (IMAGE)
Caption
Mechanisms of molecular pathology and erythromycin treatment in myotonic dystrophy type 1
In myotonic dystrophy type 1, aberrant RNA transcribed from the mutant DMPK gene leads to the aggregation of splicing regulators. The resulting depletion in intracellular splicing regulators disrupts splicing control mechanisms, and splicing abnormalities occur in various genes. These splicing abnormalities are believed to cause diverse symptoms throughout the body, including myotonia, progressive muscle weakness, arrhythmias, and impaired glucose tolerance.
In myotonic dystrophy type 1, erythromycin prevents the aggregation of splicing regulators by binding to the abnormal RNAs, thereby restoring splicing regulatory function and improving symptoms.
Credit
2023 Nakamori et al., Erythromycin for myotonic dystrophy type 1: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial., eClinicalMedicine
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