Myotubular myopathy: the encouraging lead of PI3KC2β inactivation

In the November 2023 issue of Cahiers de myologie, the team from the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), repeat in French the results they obtained and published in English in May 2023 in the journal JCI Insight:

  • total selective inactivation of PI3KC2β kinase activity prevents muscle atrophy and weakness, as well as sarcomere and triad disorganization in a mouse model of myotubular myopathy ;
  • furthermore, this inactivation did not induce toxicity in control mice.

 

Une cible thérapeutique prometteuse dans la myopathie myotubulaire. Goret M, Massana-Muñoz X, Nattarayan V et al. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:32-36.

 

Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice. Massana-Muñoz X, Goret M, Nattarayan V et al. JCI Insight. 2023 May 8;8(9):e151933.