Autism spectrum disorder (ASD) is a neuropsychiatric condition with a range of deficits in social reciprocity and communication, and patterns of rigid-compulsive behaviors. ASD prevalence is estimated at approximately 1 in 100 individuals, with substantial evidence for a largely genetic etiology of complex architecture. The work described here is based on the principle that genes involved in the etiology of ASD will converge onto shared biological systems, and those systems will inform investigation into the pathogenesis of ASD. The purpose of this work was to test the hypothesis that genes encoding monoamine regulation networks harbor genetic variants associated with ASD. In part this was driven by the phenomenon of hyperserotonemia in a third of ASD cases. Genes in monoamine networks were thus analyzed for presence of ASD associated variation, and downstream functional studies of two such proteins, the adenosine A3 receptor (a regulator of the serotonin transporter) as well as the dopamine transporter, were revealed novel abnormalities. In conclusion, the results are highly supportive that both a genetic and functional liability exists within the broad context of monoamine dysfunction and ASD.
| Identifer | oai:union.ndltd.org:VANDERBILT/oai:VANDERBILTETD:etd-04152014-143121 |
| Date | 30 April 2014 |
| Creators | Campbell, Nicholas George |
| Contributors | Randy Blakely, James Sutcliffe, Karoly Mirnics, Thomas Morgan |
| Publisher | VANDERBILT |
| Source Sets | Vanderbilt University Theses |
| Language | English |
| Detected Language | English |
| Type | text |
| Format | application/pdf |
| Source | http://etd.library.vanderbilt.edu/available/etd-04152014-143121/ |
| Rights | restricted, I hereby certify that, if appropriate, I have obtained and attached hereto a written permission statement from the owner(s) of each third party copyrighted matter to be included in my thesis, dissertation, or project report, allowing distribution as specified below. I certify that the version I submitted is the same as that approved by my advisory committee. I hereby grant to Vanderbilt University or its agents the non-exclusive license to archive and make accessible, under the conditions specified below, my thesis, dissertation, or project report in whole or in part in all forms of media, now or hereafter known. I retain all other ownership rights to the copyright of the thesis, dissertation or project report. I also retain the right to use in future works (such as articles or books) all or part of this thesis, dissertation, or project report. |
Page generated in 0.0016 seconds