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. 2023 Nov:39 Hors série n° 1:32-36.
doi: 10.1051/medsci/2023134. Epub 2023 Nov 17.

[PI3KC2β: A promising therapeutic target in myotubular myopathy]

[Article in French]
Marie Goret  1 , Xènia Massana-Muñoz  1 , Vasugi Nattarayan  1 , David Reiss  1 , Jocelyn Laporte  1
Affiliations
Free article

[PI3KC2β: A promising therapeutic target in myotubular myopathy]

[Article in French]
Marie Goret et al. Med Sci (Paris). 2023 Nov.
Free article

Abstract
in English, French

Myotubular myopathy is a rare disease of genetic origin characterized by significant muscle weakness leading to respiratory disorders and for which no treatment exists today. In this paper, we show that inhibition of the activity of the enzyme PI3KC2β prevents the development of this myopathy in a mouse model of the disease, thus identifying a therapeutic target to treat myotubular myopathy in humans.

Title: Une cible thérapeutique prometteuse dans la myopathie myotubulaire.

Abstract: La myopathie myotubulaire est une maladie rare d’origine génétique caractérisée par une importante faiblesse musculaire entraînant des troubles respiratoires et pour laquelle aucun traitement n’existe aujourd’hui. Dans cet article, nous montrons que l’inhibition de l’activité de l’enzyme PI3KC2β prévient le développement de cette myopathie dans un modèle murin de la maladie, identifiant ainsi une cible thérapeutique pour traiter la myopathie myotubulaire chez l’homme.

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References

    1. Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 2008 ; 3 : 26.
    1. Hammond GR, Burke JE. Novel roles of phosphoinositides in signaling, lipid transport, and disease. Curr Opin Cell Biol 2020; 63 : 57–67.
    1. Dowling JJ, Vreede AP, Low SE, et al. Loss of myotubularin function results in t-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 2009 ; 5.
    1. Ribeiro I, Yuan L, Tanentzapf G, et al. Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. PLoS Genet 2011 ; 7.
    1. Sabha N, Volpatti JR, Gonorazky H, et al. PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. J Clin Invest 2016 ; 126 : 3613–3625.

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