Subvention : $100 000<\/p>\n
Dur\u00e9e : un an<\/p>\n
Contact :<\/p>\n
![\"\"](\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/02\/DrFrancescaMaltecca-150x150-2.jpg\")
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Dre Francesca Maltecca<\/p>\n
Ospedale San Raffaele<\/p>\n
Via Olgettina 60,20132, Milan, Italy\u00a0\u00a0<\/p>\n
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This project aims to evaluate the contribution of the different cerebellar cell types\u00a0to neurodegeneration in ARSACS. In our recent publication (Del Bondio\u00a0et al., 2023<\/em>) we showed\u00a0that in the ARSACS mouse cerebellum\u00a0there is increased expression of astrocytic and\u00a0microglial genes, supporting\u00a0an inflammatory response taking place\u00a0alongside the death\u00a0of Purkinje cells (PCs),\u00a0the most vulnerable and affected neurons in ARSACS patients and mouse models. In this project, we will employ single nuclei RNA sequencing (snRNAseq) in cerebellum, that can determine\u00a0the expression level of genes within\u00a0every isolated\u00a0cell\u00a0of the\u00a0cerebellar tissue, providing\u00a0the gene expression patterns\u00a0specific to the different cell types in ARSACS.\u00a0The analysis will be performed in the mouse model\u00a0and in post-mortem ARSACS human cerebellum,\u00a0and datasets compared. \u00a0\u00a0Moreover, we will focus on the microglial profile of the human and mouse samples, to better investigate its role in disease progression. This\u00a0human-mouse approach represents\u00a0a promising opportunity to have a comprehensive view of\u00a0ARSACS pathogenesis\u00a0and\u00a0to\u00a0identify\u00a0biomarkers of disease progression and novel potential targets for therapy.<\/p>\n<\/p>\n Subvention : $100 000<\/p>\n Dur\u00e9e : un an<\/p>\n Contact :<\/p>\n Dre Francesca Maltecca<\/p>\n Ospedale San Raffaele<\/p>\n Via Olgettina 60,20132, Milan, Italy\u00a0\u00a0<\/p>\n<\/p>\n