Abstract for presentation at 11th International Congress of Human Genetics

Only a few years ago Parkinson Disease was thought to be primarily environmental in origin. Yet today it is accepted that it has a highly significant genetic component, with both Mendelian and susceptibility genes contributing to the Parkinson phenotype. While five Mendelian genes have been firmly implicated to contribute to a small percentage of PD (at most 10% of patients), the genetic risk for the majority of PD is due to susceptibility genes, and is the primary focus of this presentation. These loci have been growing in number, as innovative approaches such as genomic convergence, iterative association mapping and others have been applied, and include genes such as mitochondrial haplogroups, GSTO1, NOS2A, FGF20, MAOB, EIF2B3, BDNF among others. Parkinson disease remains as one of the best examples of genetic and environmental interactions (smoking) leading to a common phenotype, involving both nuclear and mitochondrial genomes. How all these genetic discoveries have provided insight into the possible mechanisms leading to PD will be discussed, as well as the research approaches used to identify the complex genetics of this very genetically heterogeneous disorder.