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Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population
Thesis (MSc)--Stellenbosch University, 2026.
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| Format: | Thesis |
| Language: | English |
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Stellenbosch : Stellenbosch University
2026
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| _version_ | 1867614131048153088 |
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| access_status_str | Open Access |
| author | Gray, Cassidy |
| author2 | Pearce, Brendon |
| author_browse | Gray, Cassidy Pearce, Brendon |
| author_facet | Pearce, Brendon Gray, Cassidy |
| author_sort | Gray, Cassidy |
| collection | Thesis |
| dc_rights_str_mv | Stellenbosch University |
| description | Thesis (MSc)--Stellenbosch University, 2026. |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/136037 |
| institution | Stellenbosch University (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:47:09.638Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2026 |
| publishDateRange | 2026 |
| publishDateSort | 2026 |
| publisher | Stellenbosch : Stellenbosch University |
| publisherStr | Stellenbosch : Stellenbosch University |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/136037 Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population Gray, Cassidy Pearce, Brendon McGregor, Nathaniel Stellenbosch University. Faculty of Science. Dept. of Genetics. Thesis (MSc)--Stellenbosch University, 2026. Gray, C. 2026. Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population. Unpublished masters thesis. Stellenbosch: Stellenbosch University [online]. Available: https://scholar.sun.ac.za/items/f625707c-f4a4-4451-a676-311b8e0b5432 Schizophrenia (SCZ) is increasingly recognized as a disorder of compromised brain bioenergetics. Therefore, this study investigated the contribution of mitochondrial genomic variation and mitonuclear crosstalk to clinical symptom severity in a South African First Episode Schizophrenia (FES) cohort (N=103). Utilizing genome-wide association data, the study employed General Linear Models to assess mitochondrial single nucleotide variants (SNVs), cumulative mitochondrial gene burdens, and epistatic interactions between mitochondrial SNVs and nuclear-encoded mitochondrial genes (NEMtGs) against Positive and Negative Syndrome Scale (PANSS) scores. Although no associations survived multiple testing corrections, exploratory analyses revealed biologically coherent patterns distinguishing symptom domains. Negative symptom severity was nominally associated with variants in electron transport chain (ETC) and mitoribosomal genes, alongside epistatic interactions involving the SLC25A solute carrier family. These findings support a pathogenic model wherein substrate starvation and respiratory chain collapse drive the bioenergetic failure and oxidative toxicity underlying hypofrontality. Positive symptom severity was predominantly linked to variants in mitoribosomal and mitochondrial maintenance genes, implicating compromised mitochondrial protein synthesis fidelity. Collectively, these results suggest that clinical heterogeneity in SCZ is modulated by mitonuclear incompatibility rather than isolated genetic variance. The data indicates that symptom severity arises from specific failures in ATP production and calcium homeostasis, where the nuclear background determines the pathogenicity of mitochondrial variants. Masters 2026-04-21T08:02:37Z 2026-04-21T08:02:37Z 2026-03 Thesis https://scholar.sun.ac.za/handle/10019.1/136037 en Stellenbosch University 262 pages : ill. application/pdf Stellenbosch : Stellenbosch University |
| spellingShingle | Gray, Cassidy Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population |
| title | Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population |
| title_full | Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population |
| title_fullStr | Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population |
| title_full_unstemmed | Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population |
| title_short | Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population |
| title_sort | mitochondrial contributions to schizophrenia symptom severity a gwas approach in a south african population |
| url | https://scholar.sun.ac.za/handle/10019.1/136037 |
| work_keys_str_mv | AT graycassidy mitochondrialcontributionstoschizophreniasymptomseverityagwasapproachinasouthafricanpopulation |