1 in every 1000 people suffer from the neurodevelopmental disease known as Autism, and yet to this day its true cause has never been discovered. While autism has long been known to be a genetically inherited disease, the actual complex of mutations required to trigger the disorder have never been identified. However, recent investigations have indicated a link between autism and the genes regulating the human dopaminergenic system.
The current model for the inheritance of autism indicates the interaction of multiple polymorphic loci in the human genome, and it is believed that these loci reside in regions involved in the metabolism of the neurotransmitter dopamine. A recent investigation genotyped numerous regulating factors of the dopaminergenic system in 403 children suffering from autism. Several genes were examined, including SLC6A3, 6-pyruvoyltetrahydropterin synthase and ALDH3A1, and links between interactions of several specific mutations and alleles, and the resultant phenotypic symptoms exhibited were investigated.
While significant association was detected for one mutation in particular, rs2239535, the primary finding was that no one genetic characteristic was capable of causing autism. Indeed, no combination of mutated dopaminergenic regulatory factors were seen to induce autism either. While this indicates that the primary risk locus for autism is not located in the genes regulating the metabolism of dopamine, there is nonetheless significant evidence to indicate that certain variations of these genes can contribute to causing autism.
Created by: Daniel Lancini
Student Number: 42037837
Reference List:
"Examination of Association to Autism of Common Genetic Variation in Genes Related to Dopamine",
B.M. Anderson, N. Schnetz-Boutaud, J. Bartlett, H.H. Wright, R.K. Abramson, M.L. Cuccaro, J.R. Gilbert, M.A. Pericak-Vance, and J.L. Haines, Date accessed: 13 April 2009, Available from URL: http://www3.interscience.wiley.com.ezproxy.library.uq.edu.au/cgi-bin/fulltext/121590816/PDFSTART?CRETRY=1&SRETRY=0"The Neurobiology of Autism", Margaret Bauman and Thomas Kemper, Date accessed: 15 April 2009, Available from URL: http://books.google.com.au/books?id=NQCbFrB3S9EC&pg=PA276&lpg=PA276&dq=autism+genetics+dopamine&source=bl&ots=Gz2ZDjWvDm&sig=OhI_65L9Qd-oCZEFV42AuuSBep0&hl=en&ei=7w_oScekIISZkQX08ImBBw&sa=X&oi=book_result&ct=result&resnum=5#PPP1,M1
