A possible beneficial effect of gentamycin in plectin-related myopathy

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Plectin is one of the intermediate filaments essential for maintaining the architecture of the cell. Its deficiency can lead to various cutaneous or neuromuscular pathologies (myofibrillary myopathy, muscular dystrophy, congenital myasthenic syndrome). Spanish researchers report the observation of a 30 year old patient with both epidermolysis bullosa and muscular dystrophy, in whom :

  • on the basis of a homozygous stop mutation in the PLEC1 gene, gentamycin injections were administered for a fortnight on two occasions and at seven month intervals,
  • Iterative skin biopsies showed re-expression of plectin after treatment,
  • with a clinical effect on myalgia and quality of life, but not on the muscle deficit.

 

Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants. Martínez-Santamaría L, Maseda R, de Arriba MDC et al. JAMA Dermatol. 2022 Mar 2:e220112.

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