The role of mitochondria in autism: an analysis of mitochondrial dysfunction in ASD

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dc.contributor.advisorO'Ryan, Colleen
dc.contributor.authorVan Der Colff, Rachelle
dc.date.accessioned2026-05-12T09:52:24Z
dc.date.available2026-05-12T09:52:24Z
dc.date.issued2022
dc.date.updated2026-05-12T09:50:47Z
dc.description.abstractAutism is a neurodevelopmental disorder characterised by challenges in socio-communication, restricted and repetitive behaviours and interests. Despite the 1 in 59 prevalence of ASD (Autism Spectrum Disorder), it is severely understudied in minority populations, such as the Sub-Saharan population. This is mainly because of a lack of genetic biobanks, meaning African researchers cannot compete with the large-scale studies of the Northern Hemisphere. The researchers involved in this project have previously set up a unique cohort of age-matched South African children with and without ASD. As epigenetics is becoming increasingly more popular in studying neuro-disorders, this research team has investigated the differential methylation (DM) patterns associated with ASD using a 450K array, and found several DM genes associated with mitochondrial metabolism. Hence the investigation into (and the title of this thesis) the association of mitochondrial dysfunction to ASD. This thesis aims to validate the differential methylation of a subset of these genes, to investigate STOML2 expression levels in ASD as a gene critical to mitochondrial fusion. Using different qPCR techniques, the relative mitochondrial copy number between ASD and neurotypical children was also analysed, looking at both copy number variation, and copy number deletion. This research successfully validated the DM of selected genes using two methods of validation, and identified both PCCB and PCDHA12 as significantly hypomethylated in children with ASD. A clear increase in mitochondrial copy number was also observed between ASD and neurotypical children. While mitochondrial deletions were not observed, this was to be expected because none of the ASD children in the cohort has any diagnosis of a severe mitochondrial disease (which would be clear phenotype of mitochondrial deletions). In conclusion, this thesis reinforces the role of mitochondria and its dysfunction in ASD.
dc.identifier.apacitationVan Der Colff, R. (2022). <i>The role of mitochondria in autism: an analysis of mitochondrial dysfunction in ASD</i>. (). University of Cape Town ,Faculty of Science ,Department of Molecular and Cell Biology. Retrieved from http://hdl.handle.net/11427/43218en_ZA
dc.identifier.chicagocitationVan Der Colff, Rachelle. <i>"The role of mitochondria in autism: an analysis of mitochondrial dysfunction in ASD."</i> ., University of Cape Town ,Faculty of Science ,Department of Molecular and Cell Biology, 2022. http://hdl.handle.net/11427/43218en_ZA
dc.identifier.citationVan Der Colff, R. 2022. The role of mitochondria in autism: an analysis of mitochondrial dysfunction in ASD. . University of Cape Town ,Faculty of Science ,Department of Molecular and Cell Biology. http://hdl.handle.net/11427/43218en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Van Der Colff, Rachelle AB - Autism is a neurodevelopmental disorder characterised by challenges in socio-communication, restricted and repetitive behaviours and interests. Despite the 1 in 59 prevalence of ASD (Autism Spectrum Disorder), it is severely understudied in minority populations, such as the Sub-Saharan population. This is mainly because of a lack of genetic biobanks, meaning African researchers cannot compete with the large-scale studies of the Northern Hemisphere. The researchers involved in this project have previously set up a unique cohort of age-matched South African children with and without ASD. As epigenetics is becoming increasingly more popular in studying neuro-disorders, this research team has investigated the differential methylation (DM) patterns associated with ASD using a 450K array, and found several DM genes associated with mitochondrial metabolism. Hence the investigation into (and the title of this thesis) the association of mitochondrial dysfunction to ASD. This thesis aims to validate the differential methylation of a subset of these genes, to investigate STOML2 expression levels in ASD as a gene critical to mitochondrial fusion. Using different qPCR techniques, the relative mitochondrial copy number between ASD and neurotypical children was also analysed, looking at both copy number variation, and copy number deletion. This research successfully validated the DM of selected genes using two methods of validation, and identified both PCCB and PCDHA12 as significantly hypomethylated in children with ASD. A clear increase in mitochondrial copy number was also observed between ASD and neurotypical children. While mitochondrial deletions were not observed, this was to be expected because none of the ASD children in the cohort has any diagnosis of a severe mitochondrial disease (which would be clear phenotype of mitochondrial deletions). In conclusion, this thesis reinforces the role of mitochondria and its dysfunction in ASD. DA - 2022 DB - OpenUCT DP - University of Cape Town KW - Autism KW - Mitochondria KW - Mitochondrial dysfunction KW - Copy Number Variation KW - Epigenetics KW - DNA methylation KW - PCCB KW - PCDHA12 KW - STOML2 KW - Pyrosequencing KW - Targeted Next Generation Bisulfite Sequencing KW - qPCR KW - unders LK - https://open.uct.ac.za PB - University of Cape Town PY - 2022 T1 - The role of mitochondria in autism: an analysis of mitochondrial dysfunction in ASD TI - The role of mitochondria in autism: an analysis of mitochondrial dysfunction in ASD UR - http://hdl.handle.net/11427/43218 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/43218
dc.identifier.vancouvercitationVan Der Colff R. The role of mitochondria in autism: an analysis of mitochondrial dysfunction in ASD. []. University of Cape Town ,Faculty of Science ,Department of Molecular and Cell Biology, 2022 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/43218en_ZA
dc.language.isoen
dc.language.rfc3066eng
dc.publisher.departmentDepartment of Molecular and Cell Biology
dc.publisher.facultyFaculty of Science
dc.publisher.institutionUniversity of Cape Town
dc.subjectAutism
dc.subjectMitochondria
dc.subjectMitochondrial dysfunction
dc.subjectCopy Number Variation
dc.subjectEpigenetics
dc.subjectDNA methylation
dc.subjectPCCB
dc.subjectPCDHA12
dc.subjectSTOML2
dc.subjectPyrosequencing
dc.subjectTargeted Next Generation Bisulfite Sequencing
dc.subjectqPCR
dc.subjectunders
dc.titleThe role of mitochondria in autism: an analysis of mitochondrial dysfunction in ASD
dc.typeThesis / Dissertation
dc.type.qualificationlevelMasters
dc.type.qualificationlevelMasters
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