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Review
. 2024 Nov:40 Hors série n° 1:40-44.
doi: 10.1051/medsci/2024129. Epub 2024 Nov 18.

[Metabolic dysfunctions in type I myotonic dystrophy: A potential therapeutic target]

[Article in French]
Lola Lessard  1 , Laure Gallay  2 , Rémi Mounier  3
Affiliations
Free article
Review

[Metabolic dysfunctions in type I myotonic dystrophy: A potential therapeutic target]

[Article in French]
Lola Lessard et al. Med Sci (Paris). 2024 Nov.
Free article

Abstract
in English, French

Myotonic dystrophy type I (DM1) is a genetic disease characterized by a multisystemic RNA metabolism dysregulation and splicing toxicity. Numerous signaling pathways are deregulated, and especially AMPK, a key sensor and regulator of cellular metabolism. To restore AMPK signaling activity in DM1 muscle tissue and cells could improve mitochondrial biogenesis and dynamics, mitophagy and oxidative stress, energy production and, in fine, skeletal muscle tissue homeostasis.

Title: Altérations métaboliques dans la dystrophie myotonique de type I - Une piste thérapeutique potentielle.

Abstract: La dystrophie myotonique de type I (DM1) est une maladie génétique responsable d’une altération multi-systémique de l’épissage alternatif. En conséquence, de nombreuses voies de signalisation cellulaires sont dérégulées. Une répression de l’AMPK (adenosine monophosphate activated kinase), le principal régulateur du métabolisme cellulaire, est notamment observée. Restaurer la voie de signalisation de l’AMPK pourrait permettre d’améliorer la biogenèse et la dynamique mitochondriales, les processus mitophagiques et de régulation du stress oxydatif mitochondrial, la production énergétique et, in fine, l’homéostasie du tissu musculaire strié squelettique dans la DM1.

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References

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