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Single cell RNA-seq meta-analysis on neurodegenerative disorders (Master thesis)

Καραμήτσου, Κωνσταντίνα/ Karamitsou, Konstantina/ Εφαρμοσμένη Βιοπληροφορική-Ανάλυση Βιολογικών Δεδομένων

Neurodegenerative disorders are diseases characterized by neuronal death and progressive degeneration in the brain. Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, affecting up to 3% of the elderly population and is marked by dopaminergic neuronal degeneration in the substantia nigra. PD can be attributed to many etiological factors, including genetic predisposition and environmental influences. Yet, its exact molecular pathogenesis remains unknown, with multiple systems and molecular processes appearing implicated. A meta-analysis was conducted on single-cell and single-nucleus RNA-seq data derived from different mouse midbrain models of Parkinson’s disease, in order to investigate potentially disease-related transcriptomic changes. Multiple cell types were identified in the normal and diseased mouse midbrain, with most of them exhibiting transcriptional alterations in response to Parkinson’s disease. The results of the analysis highlighted the involvement of mitochondrial respiratory processes, lipid metabolism and altered lysosomal activity in glial and barrier-associated cell populations, while the neuronal findings were less pronounced. Overall, the analysis provides insights into the convergent transcriptomic findings of multiple midbrain cell types across different mouse models of Parkinson’s disease.