LYSOLATE "Late onset Lysosomal Storage Disorders (LSDs) in the differential diagnosis of neurodegenerative diseases: development of new diagnostic procedures and focus on potential pharmacological chaperones (PCs)" (DFM.AD004.270)
Project areaSistemi e materiali complessi, materia soffice, biofisica e reti (DFM.AD004)
Structure responsible for the research project
Lysosomal storage diseases (LSDs) are rare or ultra-rare monogenic disorders. Their incidence is probably underestimated and the diagnosis is often delayed or may be missed because many symptoms are of a general, non-specific. In adults, several common neurodegenerative disorders (Parkinson's disease, Alzheimer's disease) can present symptoms similar to LSDs.
The main goal of this project is to characterize the symptoms of neurodegenerative diseases which overlap with late- onset LSDs, so that available treatments can be introduced before neurological deterioration progresses.
The aim of the CNR unit is to develop new methods for the diagnosis of some LSDs. It has been demonstrated that a misregulation of GM1 content is directly involved in Hungtinton's and Parkinson's diseases. A diagnostic test to measure GM1 ganglioside levels in peripheral blood represents a potential diagnostic tool for a number of common neurodegenerative diseases. The reprogramming and differentiation of induced pluripotent stem cells in neurons obtained from fibroblasts of LSD patients will lead to the development of a tool for evaluating any therapy for neurodegenerative diseases.
Start date of activity
Diagnosis, neurodegeneration, fluorescence
Last update: 01/12/2023