PADOVA – Aging, immobilisation, malnutrition, infections, tumors, diabetes and obesity, liver, heart, kidney and lung diseases are conditions that frequently lead to the loss of muscle mass – a process known as muscular atrophy – and the onset of a state of weakness and fatigue which also causes a lower response to therapies.
The molecular mechanisms that induce muscle atrophy are not yet fully defined, and to date there are no therapies capable of preventing or contrasting it. However, knowing and studying the genes that have a role in the regulation of muscle mass, with the aim of identifying new targets for future drug therapies, is essential. An important obstacle to this type of research arises from the high number of unknown genes among those that encode proteins: of the 20,000 known genes, more than 5,000 are in fact unexplored (the so-called dark genes).
In this perspective, the results of the study “MYTHO is a novel regulator of skeletal muscle autophagy and integrity” published in the journal “Nature Communications” by the research group directed by Marco Sandri, Principal Investigator of the Veneto Institute of Molecular Medicine (VIMM) and professor of Clinical Pathology and director of the Department of Biomedical Sciences of the University of Padua and coordinated by Anais Franco Romero and Jean Philipe Leduc-Gaudet (first co-authors of the study), led to the identification of a new gene – called MYTHO (Macroautophagy and YouTH Optimizer) – important for the integrity of skeletal muscle and in particular for the degradation process of proteins and organelles.
“The discovery of new genes that control the quality of our muscles opens up new horizons not only therapeutic – with the possibility of developing new drugs that preserve strength – but also diagnostic” he stressed Marco Sandri. “Thanks to the knowledge of these genes and how they work, we will be able to identify new treatments for all patients who have hereditary diseases, for which the mutated gene is not known.”
