Professor Cenacchi publishes an important discovery useful to understand the mechanism that causes Limb-Girdle Muscular Dystrophy 1F / D2

Professor Giovanna Cenacchi, one of the researchers with whom we collaborate and who has a long experience recognized worldwide, has recently published, together with her collaborators, the results of her latest study in the journal Molecular and Cellular Biochemistry.
This is a very important discovery given that to date the exact mechanism that causes our disease is unknown and therefore it is not possible to find an adequate therapy. With this study, Prof. Cenacchi has shed light on what our mutated protein, due to the genetic defect, causes in the early stages of muscle tissue formation. A first step to understand how to fight our Muscular Dystrophy at the origin.
Prof. Cenacchi explains that it is “a study aimed at understanding the role of Transportin 3 in cell differentiation through morphological research methods such as high-resolution confocal microscopy, electron microscopy and immunoelectromicroscopy. The relationship between transportin 3 and alternative splicing factors, such as SRF1, which are very important in controlling muscle protein diversity and differentiation, was investigated. The results obtained show that transportin 3 and the splicing factor that it transports between the cytoplasm and the nucleus modify their interaction during the different phases of myogenesis and that, therefore, the mutated transportin could influence this mechanism, giving rise to the condition pathological of the disease. ”
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