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)

Thematic area

Physical sciences and technologies of matter

Project area

Structure responsible for the research project

National Institute of Optics (INO)

Project manager

MARTINO CALAMAI
Phone number: 0554572479
Email: martino.calamai@ino.cnr.it

Abstract

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

17/07/2020

Keywords

Diagnosis, neurodegeneration, fluorescence

Last update: 14/01/2025