Amino acid derivatives have been shown to be beneficial in a number of myopathies, including collagenopathies and congenital myopathies. Taiwanese researchers have explored the therapeutic relevance of these molecules, in particular L-carnitine and creatine, in two laminopathies: LMNA-related congenital muscular dystrophy (CMD) and Emery-Dreifuss muscular dystrophy (EDMD).
- They generated five lines of zebrafish models of these diseases showing disorders of muscle function and structure (slower swimming speed, reduced endurance, smaller fibre sizes, accelerated heart rate, etc.).
- In some specimens, administration of L-carnitine or creatine shows significant gains in muscle function, with faster swimming, improved endurance and/or activation of the AMPK and mTOR signalling pathways.
- These effects were mutation-dependent: some specimens obtained benefits with one substance and not the other, while others showed no significant positive effects following treatment, whatever the molecule.
These results confirm the therapeutic potential of these compounds in this group of diseases and underline the need for precision medicine in laminopathies.
