A new project by Dr. Michele Sallese's group has recently been financed by the Telethon Foundation
Research on rare diseases. A new project by Dr. Michele Sallese's group has recently been financed by the Telethon Foundation. The aim of the study is to develop an effective therapy against the Marinesco-Sjögren Syndrome.
Cell-Penetrating SIL1 Protein Replacement Therapy for Marinesco-Sjogren Syndrome. It is the title of the Telethon project that will be carried out in the next two years in Dr. Sallese's laboratory. The Marinesco-Sjögren Syndrome (MSS), a rare childhood genetic disease linked to mutations of the gene SIL1. Individuals affected by this syndrome suffer from various disabilities, including loss of motor coordination due to cerebellar degeneration and muscle weakness. After a progressive phase, these symptoms get frequently stabilized and patients live to old age. Therefore, any treatment that may help in preventing, delaying or reducing cerebellar degeneration and muscle pathology, can significantly improve these patients' quality of life.
Previous studies have reported that reintroduction of the SIL1 gene prevents cerebellar degeneration and preserves motor function in mice carrying the same genetic defect found in people affected by MSS. Dr. Sallese's group has preliminarily demonstrated that a modified form of the SIL1 protein is able to improve the functionality of cells obtained from patients suffering from Marinesco-Sjögren syndrome. The Telethon-funded project could mark a further step forward against this rare disease, aiming at outlining an innovative strategy to replace the non-functional SIL1 protein thus restoring its function. The effect of this new potential treatment will be studied in vitro, both in cells obtained from MSS patients and in muscle cells lacking SIL1. Finally, the modified SIL1 protein will be administered to mouse models bearing the same genetic defect as the patients, to evaluate whether the treatment can be also effective in vivo and hopefully in humans.
The research unit of Dr. Sallese (Laboratory of Clinical Biochemistry and Molecular Biology coordinated by Prof. Vincenzo De Laurenzi) is engaged in the identification of molecular pathology mechanisms and biomarkers. Through a multidisciplinary approach that ranges from basic to translational research, the goal is to define new therapeutic strategies for the treatment of tumors and rare genetic diseases.
