Nutraceuticals, or the use of therapeutic substances derived from food products, is being studied in several myopathies, such as collagenopathies or congenital myopathies. Taiwanese researchers have explored the relevance of these molecules, notably L-carnitine and creatine, as treatment for laminopathies. The latter, due to mutations in the gene LMNAbring together severe forms, such as congenital muscular dystrophy (CMD) linked to LMNAor to more attenuated presentations such as Emery-Dreifuss muscular dystrophy (DMED), and have no curative treatment at present.
The fish as a model
From genetic material extracted from two patients with CMD linked to LMNA and three from DMED, the study authors generated five new lines of zebrafish each carrying a different disease-causing genetic mutation.
As in patients, the muscular capacities and structures of these model fish show signs of muscular dysfunction and structure (lower swimming speed, reduced endurance, reduction in fiber size, disturbed heart rate, etc.). These similarities between humans and animals confirm the pathogenicity of genetic mutations and the relevance of these new models for inferring the effectiveness of possible therapies.
Improved motor skills
The administration of L-carnitine or creatine to model fish through swimming water shows significant benefits on their muscle function, with a possible reversal of motor impairment (faster swimming, improved endurance). However, these effects are dependent on the mutation: some specimens obtained benefits with one substance and not the other, while others revealed no notable positive effects following the treatment, whatever the molecule.
These results confirm the therapeutic potential of L-carnitine and creatine in laminopathies, and suggest a conditional effectiveness of these molecules depending on the mutation in question. This variability in the therapeutic response underlines the importance of taking into account the genetic anomaly in the search for treatment.
Source
Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.
Pan, S. W., Wang, H. D., Hsiao, H. Y. et al.
Sci Rep 2024 14(1): 12826.
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