Spinal muscular atrophy (SMA) is a genetic disorder that affects nerve cells in the spinal cord, which transmit electrical signals to the muscles.
A research study that has recently been published in Cell Reports sheds new light on this disease.
For the first time, researchers have established a clear connection between a basic cell process, protein synthesis, and the mechanism with which the disease appears and develops.
This discovery might lead to a better understanding of the only existing treatment for the disease, which has been recently approved by the FDA (the Food and Drug Administration, the US agency that, among other things, grants marketing authorizations of new medicinal products), and to the development of alternative or complementary treatments.
The study is the result of the collaboration between the Biophysics Institute of CNR (the Italian National Research Council, principal investigator Gabriella Viero) and UniTrento CIBIO (principal investigator Alessandro Quattrone) with a research team of the University of Edinburgh.
This work is so remarkable that the publisher decided to put it on the cover of the Cell Reports issue featuring the article, and it is also the first important result achieved by the Axonomix project, which has just ended.
Axonomix is one of a series of initiatives funded by the Autonomous Province of Trento to support research in Trentino and encourage young and talented researchers like Paola Bernabò and Toma Tebaldi, co-authors of the study.
For more information read the press release (in italian).