Myotonic Dystrophy-A Progeroid Disease?

Frontiers in Neurology
Peter MeinkeBenedikt Schoser

Abstract

Myotonic dystrophies (DM) are slowly progressing multisystemic disorders caused by repeat expansions in the DMPK or CNBP genes. The multisystemic involvement in DM patients often reflects the appearance of accelerated aging. This is partly due to visible features such as cataracts, muscle weakness, and frontal baldness, but there are also less obvious features like cardiac arrhythmia, diabetes or hypogammaglobulinemia. These aging features suggest the hypothesis that DM could be a segmental progeroid disease. To identify the molecular cause of this characteristic appearance of accelerated aging we compare clinical features of DM to "typical" segmental progeroid disorders caused by mutations in DNA repair or nuclear envelope proteins. Furthermore, we characterize if this premature aging effect is also reflected on the cellular level in DM and investigate overlaps with "classical" progeroid disorders. To investigate the molecular similarities at the cellular level we use primary DM and control cell lines. This analysis reveals many similarities to progeroid syndromes linked to the nuclear envelope. Our comparison on both clinical and molecular levels argues for qualification of DM as a segmental progeroid disorder.

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Citations

Dec 7, 2019·Annals of Clinical and Translational Neurology·Youjin WangShahinaz M Gadalla
Dec 19, 2019·Frontiers in Neurology·Sylvia NieuwenhuisJeffrey C Glennon
Nov 15, 2018·Frontiers in Physiology·Stefan HintzePeter Meinke
Feb 19, 2021·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Ralf WeijsAnne-Marie van Cappellen van Walsum
May 22, 2021·Mechanisms of Ageing and Development·Elizaveta M SolovyevaAngelika S Meyer
Jul 16, 2021·Frontiers in Neuroscience·Stefan HintzePeter Meinke
Aug 28, 2021·International Journal of Molecular Sciences·Vanessa TodorowPeter Meinke
May 15, 2021·Current Opinion in Neurology·Federica Montagnese, Benedikt Schoser

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Methods Mentioned

BETA
biopsy
electrophoresis

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