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Towards the identification of environmental exposures and epigenetic marks related to the etiology of Autism
Linköping University, Department of Physics, Chemistry and Biology, Biology.
2017 (English)Independent thesis Advanced level (degree of Master (Two Years)), 40 credits / 60 HE creditsStudent thesis
Abstract [en]

Autism is a complex disorder with possible genetic, epigenetic and environmental components. As the etiology remains uncertain and an increase in incidence is suspected, the involvement of possible environmental risk factors has gained increasing attention. With this thesis, I aim to provide tools for assessing such risk factors. Firstly, I aim to construct a questionnaire for the analysis of an environmental component in the etiology of autism. Secondly, I aim to assess the importance of prenatal exposure to metals in certain diseases and thirdly I aim to construct a methodology enabling the analysis of the mitochondrial epigenome, which is especially interesting in relation to autism as mitochondrial diseases occur more frequently in an autistic population than in the general population. For the creation of the questionnaire the scientific literature was reviewed. The resulting questionnaire contains general, prenatal, neonatal and paternal risk factors. The metal analysis was conducted on the cord blood of patients who later developed autism, antinuclear antibodies positive rheumatoid arthritis or diabetes, which were then compared to healthy control subjects. My findings propose a link between elevated levels of cord blood cadmium or aluminum and rheumatic arthritis. In addition, elevated aluminum levels might be associated with autism. In regards to the analysis of the mitochondrial epigenome, to my knowledge, no standard protocol exists with frozen human whole blood as a source. In this thesis, I succeeded in creating the basis for such a protocol, however still needing several small modifications for an increased overall yield.

Place, publisher, year, edition, pages
2017. , p. 55
Keywords [en]
autism spectrum disorders, cord blood, environmental factors, metals, method optimization, mitochondrial DNA, rheumatoid arthritis
National Category
Behavioral Sciences Biology
Identifiers
URN: urn:nbn:se:liu:diva-138946ISRN: LITH-IFM-A-EX--17/3356--SEOAI: oai:DiVA.org:liu-138946DiVA, id: diva2:1115434
Subject / course
Biology
Presentation
2017-05-24, Nobel, Linköping, 15:00 (English)
Supervisors
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Available from: 2017-06-27 Created: 2017-06-26 Last updated: 2017-06-27Bibliographically approved

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CiteExportLink to record
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