Jarvis, Seth;
(2023)
Analysis of degeneration and dysregulation in neurodegenerative diseases.
Doctoral thesis (Ph.D), UCL (University College London).
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Abstract
Neurodegenerative diseases are a group of diseases characterised by progressive loss of structure and function of neurons. Conditions under this umbrella tend to have two main effects on patients, degeneration of motor function, and degeneration of cognitive ability. Two diseases which are closely linked are Amyotrophic Lateral Sclerosis (ALS) which has primarily motor effects, and frontotemporal dementia (FTD) which has primarily cognitive effects. Despite their different presentations, both have been linked to dysregulation in RNA binding proteins (RBPs). All of my work has sought to add to the existing body of knowledge around how neurodegenerative diseases act and progress. The main body of my work has sought to use RNA sequencing data to analyse data relating to neurodegenerative diseases. 3 of the studies are relating to the effects on RNA expression and splicing of mutations in C9orf72, TAU, FUS, and TARDBP. These chapters aim to further elucidate how these genes function, either through analysing RNA expression in novel mouse models, or by comparing RNA expression data from samples in the human brain biobank to relevant controls. In them I find several promising candidates for further investigation with regards to the changes which result from mutations in my genes of interest. One other chapter uses RNA-sequencing data, and aims to compare data from a total RNAseq kit, and a kit produced by Lexogen which aims to be able to provide similar information at a lower read depth as total RNA-seq data. While this was more a technical chapter, the samples used were from FUS mutant mice and some of the results of analysis has been published elsewhere. The final chapter involved creating a tool to analyse degeneration of neuromuscular junctions using data from a tool created by a colleague. Overall, my PhD thesis aims to move the field of research into neurodegenerative diseases forward through a combination of improving our knowledge of diseases, improving our knowledge of the tools we are using, and creating tools for use by future researchers.
| Type: | Thesis (Doctoral) |
|---|---|
| Qualification: | Ph.D |
| Title: | Analysis of degeneration and dysregulation in neurodegenerative diseases |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| Additional information: | Copyright © The Author 2023. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10178137 |
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