Myotonic Dystrophy: A Progeroid Disease?

The document explored the potential classification of myotonic dystrophy (DM) as a progeroid disease due to its similarities with progeroid syndromes, which mimic accelerated aging. It highlighted that DM, caused by mutations in the DMPK and CNBP genes, led to symptoms like muscle weakness, cataracts, and alopecia, resembling aging. The study found that DM1 and DM2 exhibited cellular aging features such as premature senescence, telomere shortening, and mitochondrial dysfunction. In particular, DM1 showed down-regulation of lamin A and B1 and increased nuclear envelope invaginations, suggesting molecular aging characteristics similar to other progeroid disorders. These findings supported the hypothesis that DM, especially DM1, could be classified as a progeroid disease, with alterations in nuclear envelope composition contributing to the disease phenotype and impaired muscle regeneration.