A European study coordinated by the Institute of Biophysics, CNR Unit in Trento, with the universities of Trento, Edinburgh and Utrecht, the National Institute of Chemistry of Slovenia, and Immagina Biotechnology, found a mechanism that "blocks" the protein synthesis process in individuals with SMA. The results achieved, published in Nature Cell Biology, are a turning point in the development of a new generation of treatments.
Research sheds new light on spinal muscular atrophy (SMA), a genetic disease that affects one in 6,000-10,000 newborns, and which is a leading genetic cause of death in infants associated to a genetic disease. SMA is caused by the mutation or loss of the Smn1 gene, which reduces the levels of a protein known as survival motor neuron (SMN) and causes motor neuron deterioration and muscle weakness since the first months of life.
A European study coordinated by the Institute of Biophysics of the National Research Council in Trento – in collaboration with researchers from the universities of Edinburgh, Utrecht and Trento, the National Institute of Chemistry of Slovenia, and Immagina Biotechnology – identified a new mechanism that "blocks" the protein synthesis process in individuals with SMA.
The study, published in Nature Cell Biology, underlines the crucial role of the Survival Motor Neuron (SMN) protein in controlling the activity of ribosomes, the "molecular machines" that synthesize proteins by translating the message coded in RNA from genes, in a process known as "translation".
“Earlier studies conducted by our team had already demonstrated the involvement of this protein in the translation phase and the impact of its absence in the initial stages of the disease", explained Gabriella Viero (Cnr-Ibf), coordinator of the study and co-author of the work. "Now we have discovered how the absence of this protein "blocks" the protein synthesis process, which is essential for growth and development.
The link between the SMN protein and the activity of ribosomes sheds new light on the molecular mechanism behind this disease, and paves the way for tailored treatments".
The study received funding from AFM Telethon (Francia), Telethon (Italia), the Autonomous Province of Trento and Fondazione Caritro.
(e.b.)
SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy', DOI number: 10.1038/s41556-020-00577-7. URL: https://www.nature.com/articles/s41556-020-00577-7