PubMed · 15654984
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Maurice A M van Steensel, Michel van Geel. 2005. Does recessive EKV exist?. https://doi.org/10.1111/j.0022-202x.2004.23517.x
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Our genetic knowledge of Parkinson's disease (PD) is moving forward at an impressive speed. In less then 10 years family-based linkage analysis and positional cloning have led to the identification of several genes for familial forms of PD, which has been of critical importance to the scientific advance of PD research as the causal genes have offered new tools to model and understand pathways leading to neurodegeneration in PD.
Several genes have been identified for monogenic disorders that variably resemble Parkinson's disease. Dominant mutations in the gene encoding alpha-synuclein enhance the propensity of this protein to aggregate. As a consequence, these patients have a widespread disease with protein inclusion bodies in several brain areas. In contrast, mutations in several recessive genes (parkin, DJ-1, and PINK1) produce neuronal cell loss but generally without protein aggregation pathology. Progress has been made in understanding some of the mechanisms of toxicity: Parkin is an E3 ubiquitin ligase and DJ-1 and PINK1 appear to protect against mitochondrial damage. However, we have not yet fully resolved how the recessive genes relate to alpha-synuclein, or whether they represent different ways to induce a similar phenotype.