Physically seeing mitochondria “survive” is a fundamental passage in the study published by Nature Medicine by a group of Telethon researchers including Prof. Nadir M. Maraldi, head of the Rizzoli Musculoskeletal Cell Biology Laboratory in Bologna.
The Laboratory, involved from the very beginning in the study started five years ago, in this last phase has pinpointed “ultrastructural” methods that allows us to see what happens inside the sick muscle cells: “The ‘clues’ on autophagy, the physiological process that clears damaged parts of cells, collected by colleagues in Padua, and identified in this study to intervene on Ullrich muscular dystrophy and on Bethlem myopathy were not sufficient – explains Maraldi. Thanks to the electronic microscopes in our Laboratory and to the expertise our researchers have in ultramicroscopy, we saw that mitochondria, the cell ‘power stations’ defective in these diseases, are cleared by this process with a consequent significant amelioration of the muscles. This occurs thanks to the pharmacological treatment object of the study or, as also observed during the study published in Nature, by a protein-poor diet. We saw that both these actions activated cell autophagy, by eliminating mitochondria that otherwise determines cell death.”
The study, also conducted on cells from patients, selected at the Rizzoli, identified mitochondria damage which was the aim of the study financed by Telethon: “Mitochondria alteration that determines these genetic muscular diseases – concludes Maraldi – was discovered in 2003 by Patrizia Sabatelli, a CNR researcher at our Laboratory.“
The paper published in Nature Medicine was achieved by a group of Telethon researchers coordinated by Paolo Bonaldo from the University of Padua, Marco Sandri from the Veneto Institute of Molecular Medicine, Nadir M. Maraldi from the Rizzoli Orthopaedic Institute in Bologna, and Luciano Merlini from the University of Ferrara.