Analysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogaster
<p>Neurological diseases are devastating illnesses that affect over one billion people worldwide. Drosophila melanogaster provides a genetically tractable system in which to study gene function and the mechanisms of pathogenesis of neurological diseases. In this study I have investigated the f...
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| Format: | Thesis |
| Language: | English |
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2013
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| _version_ | 1826280625479352320 |
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| author | Davies, S Sian E Davies |
| author2 | Liu, J |
| author_facet | Liu, J Davies, S Sian E Davies |
| author_sort | Davies, S |
| collection | OXFORD |
| description | <p>Neurological diseases are devastating illnesses that affect over one billion people worldwide. Drosophila melanogaster provides a genetically tractable system in which to study gene function and the mechanisms of pathogenesis of neurological diseases. In this study I have investigated the function of survival motor neuron (SMN), the causative gene in the neuromuscular disease spinal muscular atrophy (SMA), in growth and differentiation in Drosophila. In addition, I have used the fruit fly to investigate a putative modifier of a previously characterised Drosophila model of Parkinson's disease.</p> <p>Spinal muscular atrophy is an autosomal recessive neurological disease that is characterised by motor neuron loss resulting in muscle weakness. The disease is caused by the deletion or mutation of the survival motor neuron (SMN) gene. In Drosophila, SMN was found to be highly expressed in dividing tissues and a reduction in SMN levels resulted in growth defects, stem cell defects and developmental delay. SMN was also shown to regulate chromosome morphology of the endocycling nurse cells of the female germline. Therefore it appears that SMN has a role in growth control and development in Drosophila.</p> <p>Parkinson's disease is a common disorder that results in widespread neurodegeneration with a predilection for dopaminergic neuron loss resulting in movement defects. A defining neuropathological feature of the disease is the presence of alpha-synuclein containing inclusions. Using a Drosophila model of PD, I have shown that specific alpha-synuclein-induced phenotypes in the fly can be suppressed by the overexpression of the E3 ubiquitin ligase, Nedd4.</p> |
| first_indexed | 2024-03-07T00:16:30Z |
| format | Thesis |
| id | oxford-uuid:7b02d101-aaa4-4658-834d-06a2bcd56136 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:16:30Z |
| publishDate | 2013 |
| record_format | dspace |
| spelling | oxford-uuid:7b02d101-aaa4-4658-834d-06a2bcd561362022-03-26T20:47:52ZAnalysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogasterThesishttp://purl.org/coar/resource_type/c_db06uuid:7b02d101-aaa4-4658-834d-06a2bcd56136BiologyNeuroscienceGenetics (medical sciences)EnglishOxford University Research Archive - Valet2013Davies, SSian E DaviesLiu, J<p>Neurological diseases are devastating illnesses that affect over one billion people worldwide. Drosophila melanogaster provides a genetically tractable system in which to study gene function and the mechanisms of pathogenesis of neurological diseases. In this study I have investigated the function of survival motor neuron (SMN), the causative gene in the neuromuscular disease spinal muscular atrophy (SMA), in growth and differentiation in Drosophila. In addition, I have used the fruit fly to investigate a putative modifier of a previously characterised Drosophila model of Parkinson's disease.</p> <p>Spinal muscular atrophy is an autosomal recessive neurological disease that is characterised by motor neuron loss resulting in muscle weakness. The disease is caused by the deletion or mutation of the survival motor neuron (SMN) gene. In Drosophila, SMN was found to be highly expressed in dividing tissues and a reduction in SMN levels resulted in growth defects, stem cell defects and developmental delay. SMN was also shown to regulate chromosome morphology of the endocycling nurse cells of the female germline. Therefore it appears that SMN has a role in growth control and development in Drosophila.</p> <p>Parkinson's disease is a common disorder that results in widespread neurodegeneration with a predilection for dopaminergic neuron loss resulting in movement defects. A defining neuropathological feature of the disease is the presence of alpha-synuclein containing inclusions. Using a Drosophila model of PD, I have shown that specific alpha-synuclein-induced phenotypes in the fly can be suppressed by the overexpression of the E3 ubiquitin ligase, Nedd4.</p> |
| spellingShingle | Biology Neuroscience Genetics (medical sciences) Davies, S Sian E Davies Analysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogaster |
| title | Analysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogaster |
| title_full | Analysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogaster |
| title_fullStr | Analysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogaster |
| title_full_unstemmed | Analysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogaster |
| title_short | Analysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogaster |
| title_sort | analysis of smn function in development and nedd4 a putative modifier of parkinson s disease in drosophila melanogaster |
| topic | Biology Neuroscience Genetics (medical sciences) |
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