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The role of genetic factors in Parkinson’s disease has been demonstrated by the discovery of chromosomal loci associated with the disease and genes responsible for Mendelian forms.
Besides these monogenic forms, genome-wide association studies have identified susceptibility factors to develop Parkinson’s disease. Heterozygous mutations of the glucocerebrosidase gene are also risk factors for Parkinson’s disease or may be causal mutations with reduced penetrance. The study of the pathogenesis of these genes has led to propose mechanisms associated with neurodegeneration such as mitochondrial dysfunction, oxidative stress, altered proteins and cellular organelles degradation pathways and disruption of ckurs transport.
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The current development of powerful next-generation sequencing technologies will identify new variants associated with Parkinson’s disease and will help better understand the mechanisms associated with neuronal death in order to develop treatments effective on disease progression.
Parkinson’s disease, Monogenic forms, Genetic susceptibility, Genetic diagnosis. Previous Article Publish and Perish sont sur un bateau: Journal page Archives Contents list. Access to the text HTML.
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