Barahona Torres, Natalia; (2025) Multi-Omics Study in Progressive Supranuclear Palsy. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD) are two rare neurodegenerative diseases characterised by the accummulation of 4R tau in different brain cells. Previous studies had sug- gested a link between these two diseases and MOBP, a gene suspected to play a role in stabilising the myelin sheath. Herein, I report the results of a bulk post-mortem RNA-Seq study that has identified a lower gene expresion profile of myelin-related genes, including MOBP and PMP22, in the Frontal cortex of pathologically diagnosed PSP and CBD cases. A computational deconvolution analysis identified that this effect was not linked with a lower proportion of oligodendrocytes in this brain region. While MOBP could not be detected at the protein level, other myelin-related proteins such as MAG and MBP had lower abundance levels in PSP. These results further suggest the implications of myelin-related genes in these two tauopathies. This study has also been able to replicate, using a brand new dataset, the involvement of the genes DDR2, STOM and KANK2 in PSP, further suggesting the key role that these genes may have in PSP.

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