Muscle weakness, early cataract, myotonia. These are some of the symptoms of myotonic dystrophy, a genetic disease characterized by a progressive loss of strength caused by a degeneration of muscle cells (dystrophy) associated with muscle stiffness with difficulty in muscle relaxation (myotonia). It is a rare disease and for which there is no cure. But recently a group of international researchers published in the journal “e-Life” a work that contributes to the understanding of the pathogenetic basis of type 2 myotonic dystrophy, also opening new possible diagnostic and therapeutic frontiers.
What is myotonic dystrophy
The disease is called multisystem due to the involvement of different organs (heart, digestive system, endocrine system, etc.). There are two forms: myotonic dystrophy type 1 or Dm1, due to the mutation of the Dmpk gene, and the Dm2 in which the mutation concerns the Cnbp / Znf9 gene. Even if the genetic anomalies responsible for this highly disabling pathology are known, it is not yet clear what are the mechanisms underlying the clinical manifestations and an effective therapy that can alleviate the symptoms is not yet available.
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International research
A group of international researchers, led by the departments of Molecular Medicine and of Biology and Biotechnology Charles Darwin of the Sapienza University of Rome, together with the Pasteur Italia Institute – Cenci Bolognetti Foundation and other international research centers, carried out research, funded by Afm-Telethon Foundation and the Pasteur Italia Institute-Cenci Bolognetti Foundation, in which the specific role of the Cnbp protein in muscle was addressed for the first time.
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The role of the Cnbp protein
By carrying out gene inactivation and reactivation studies in the common fruit fly, the researchers realized that it is the lack of this protein, produced from the Cnbp gene in the muscles, that causes locomotor deficits similar to those observed in human pathology, as well as a reduced ability to fly in the insect. The researchers thus understood that this deficit causes the reduction of an enzyme, ornithine decarboxylase, which regulates the production of polyamines, small positively charged molecules essential for many vital functions of the cell.
The anti-aging supplement
Polyamine spermidine, in particular, is a food supplement that has recently become the subject of numerous studies for its alleged ability to prevent aging and some degenerative diseases, both cardiac and neurological. “In our work – he explains Laura Ciapponi of the Department of Biology and Biotechnology Charles Darwin Sapienza, one of the coordinators of the study – we have shown that the depletion of Cnbp in Drosophila muscles causes aging-dependent locomotor defects, which are related to an altered metabolism of polyamines ”.
Spermidin and locomotor deficits
The research group observed, in fact, a significant reduction in Cnbp, ornithine decarboxylase and polyamines both in the fruit fly lacking the Cnbp gene, and in the muscles of patients with type 2 myotonic dystrophy. “Surprisingly – he concludes Gianluca Canettieri of the Department of Molecular Medicine – when we administered polyamines, including the spermidine supplement, to our study models, we observed a significant improvement in locomotor deficits ”. According to the authors, since the reduction of polyamines is also present in the muscles of patients suffering from myotonic dystrophy type 2, these results open up new perspectives in the diagnostic and therapeutic field for patients suffering from this disabling disease.
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