gene polymorphism of transporters as risk factors of Parkinson's disease

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As both the hereditary factor and the environmental factor had been thought to be related to development of symptoms of Parkinson's disease, heredity factors were clearly shown by large-scale genetic investigation of Iceland. MPTP and 6-hydroxydopamine, which are used when making a model or Parkinson's disease, are uptaken through a dopamine transformer porter (DAT) from a synapse gap. Therefore, the DAT gene was a strong candidate for suspectivity of Parkinson's disease. In the results of direct sequencing analysis of the DAT gene, we found two polymorphism in exons in the gene. One of them, 121 5 A/G variation, exists in an exon 9. The G is dominant in the Parkinson's disease group. However this nucleotide variation does not change the amino acid, it does not directly change the function of the DAT. And then, we searched the functional variation of the promoter region abbreviation 1000bp of the DAT gene using the direct sequencing method for identification. After giving sufficient explanation about the research, we collected blood from 24 sporadic Parkinson's disease patients and extracted DNA from the leukocyte in the blood. In the results, we found 10 polymorphism and the three existed in the inside of Sp-1 site. These polymorphism will be expected to change the amount of DAT and to effect the depletion of the dopaminergic neurons.