Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

Rodolfo Tonin, Anna Caciotti, Elena Procopio, Rita Fischetto, Federica Deodato, Maria Margherita Mancardi, Maja Di Rocco, Anna Ardissone, Alessandro Salviati, Antonio Marangi, Pietro Strisciuglio, Giusi Mangone, Arianna Casini, Silvia Ricci, Agata Fiumara, Rossella Parini, Francesco Saverio Pavone, Renzo Guerrini, Martino Calamai, Amelia Morrone

Research output: Contribution to journalArticlepeer-review


GM1 ganglioside, a monosialic glycosphingolipid and a crucial component of plasma membranes, accumulates in lysosomal storage disorders, primarily in GM1 gangliosidosis. The development of biomarkers for simplifying diagnosis, monitoring disease progression and evaluating drug therapies is an important objective in research into neurodegenerative lysosomal disorders. With this in mind, we established fluorescent imaging and flow-cytometric methods to track changes in GM1 ganglioside levels in patients with GM1 gangliosidosis and in control cells. We also evaluated GM1 ganglioside content in patients' cells treated with the commercially available Miglustat, a substrate inhibitor potentially suitable for the treatment of late-onset GM1 gangliosidosis. The flow-cytometric method proved to be sensitive, unbiased, and rapid in determining variations in GM1 ganglioside content in human lymphocytes derived from small amounts of fresh blood. We detected a strong correlation between GM1 ganglioside content and the clinical severity of GM1 gangliosidosis. We confirm the ability of Miglustat to act as a substrate reduction agent in the patients' treated cells. As well as being suitable for diagnosing and managing patients with GM1 gangliosidosis this method could be useful in the diagnosis and management of other lysosomal diseases, such as galactosialidosis, Type C Niemann-Pick, and any other disease with pathologic variations of GM1 ganglioside.

Original languageEnglish
Pages (from-to)17684
JournalScientific Reports
Issue number1
Publication statusPublished - Nov 27 2019


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