Λεπτομέρειες βιβλιογραφικής εγγραφής
| Τίτλος: |
Investigating mitochondrial DNA mutations driving dysfunction and intervertebral disc degeneration |
| Συγγραφείς: |
Collins, Megan |
| Συνεισφορές: |
Pearce, Brendon Clive, Stellenbosch University. Faculty of Agrisciences. Dept. of Genetics. |
| Στοιχεία εκδότη: |
Stellenbosch University |
| Έτος έκδοσης: |
2025 |
| Συλλογή: |
Stellenbosch University: SUNScholar Research Repository |
| Θεματικοί όροι: |
Mitochondrial DNA, Mitochondrial pathology -- Genetic aspects, Proteins -- Structure -- Computer simulation, Mutation (Biology) -- Data processing, Transfer RNA, UCTD |
| Περιγραφή: |
Thesis (MSc)--Stellenbosch University, 2025. ; Collins, M. 2025. Investigating Mitochondrial DNA Mutations Driving Dysfunction and Intervertebral Disc Degeneration. Unpublished masters thesis. Stellenbosch: Stellenbosch University [online]. Available: https://scholar.sun.ac.za/items/bc34b646-b505-4dac-9aba-cf8ec00bede4 ; ENGLISH ABSTRACT: Lower back pain is a chronic disorder responsible for debilitation and reducing quality of life for millions of individuals worldwide. Studies have shown that LBP due to disc degeneration is one of the leading causes of disability. Mitochondrial dysfunction has been associated with disc degeneration and, furthermore, disc degeneration has been associated with LBP, however, the association between these mtDNA mutations and disc degeneration has not yet been assessed. The aim of this study was to investigate mitochondrial DNA mutations (mtDNA) associated with general mitochondrial dysfunction and their subsequent association with lower back pain (LBP) due to intervertebral disc degeneration (IVDD) in a South African cohort. This study sought to establish a neutral list of mtDNA mutations associated with general mitochondrial dysfunction so as to further assess their association with disc degeneration. A total of 56 mutations were identified for downstream analysis. From the generated list, the relevant protein subunits and tRNA secondary structures containing these mutations were modelled, in silico, to assess if and how the mutations altered the structure of these molecules. Mutations in protein coding genes were assessed by modelling the individual protein subunit as well as modelling the relevant mitochondrial respiratory chain complex that the subunit forms part of. From this data, hypotheses could be made about how these mutations cause dysfunction, and a subsequent genotyping assay could be chosen. After modelling, a total of 16 mutations were selected as part of the genotyping assay. The 16 mutations chosen for downstream analysis was then assessed in a South African ... |
| Τύπος εγγράφου: |
thesis |
| Περιγραφή αρχείου: |
xii, 156 pages : illustrations; application/pdf |
| Γλώσσα: |
unknown |
| Relation: |
https://scholar.sun.ac.za/handle/10019.1/132107 |
| Διαθεσιμότητα: |
https://scholar.sun.ac.za/handle/10019.1/132107 |
| Rights: |
Stellenbosch University |
| Αριθμός Καταχώρησης: |
edsbas.595775B2 |
| Βάση Δεδομένων: |
BASE |