Myotonic Dystrophy—A Progeroid Disease?

    July 2018 in “ Frontiers in Neurology
    Peter Meinke, Stefan Hintze, Sarah Limmer, Benedikt Schoser
    TLDR Myotonic dystrophy may be classified as a segmental progeroid disorder.
    Myotonic dystrophies (DM) were considered as potential segmental progeroid diseases due to their multisystemic involvement and features resembling accelerated aging, such as cataracts, muscle weakness, and frontal baldness. The study compared clinical features of DM with typical segmental progeroid disorders, which are often caused by mutations in DNA repair or nuclear envelope proteins. By analyzing primary DM and control cell lines, researchers found many molecular similarities between DM and progeroid syndromes linked to the nuclear envelope. These findings supported the hypothesis that DM could be classified as a segmental progeroid disorder.
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