| Abstract No.: | 107 |
| Country: | Canada |
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| Title: | CELL BIOLOGY OF PARKINSON'S DISEASE GENES |
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| Authors/Affiliations: | 1 Suneil K. Kalia*;
1 Toronto Western Hospital, ON, Canada
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| Content: | Parkinson’s disease is a neurodegenerative disorder that is characterized by the progressive loss of dopaminergic neurons in the substantia nigra pars compacta. Lewy bodies are intracellular proteinaceous inclusions typically found in this brain region and are pathological hallmarks of this disorder. Sporadic forms of Parkinson’s disease are thought to arise due to a complex interplay between environmental triggers and genetics. Although the precise molecular pathways leading to neurodegeneration in Parkinson’s disease remain elusive, significant progress has been made towards understanding the pathogenesis of sporadic forms of Parkinson’s disease. This has been accomplished through the elucidation of aberrations in molecular pathways in familial forms of Parkinson’s disease. A number of gene mutations have been linked to familial Parkinson’s disease over the last decade. These include mutations in alpha-synuclein, parkin, ubiquitin C-terminal hydrolase L1 (UCH-L1), PTEN-induced putative kinase 1 (PINK1), DJ-1, leucine-rich repeat kinase 2 (LRRK2), ATP13A2 and HtrA2/Omi. Research into the cell biology of these genes has identified ubiquitin-proteasome dysfunction and protein aggregation as contributors to Lewy body formation and possibly to dopaminergic neurodegeneration. Other mechanisms identified include oxidative stress and mitochondrial dysfunction. Investigation into the molecular modulators of these processes may yield potential therapeutic targets which could mitigate the loss of dopaminergic neurons in Parkinson’s disease. |
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