Reference : Parkinson's disease: one biochemical pathway to fit all genes?
Scientific journals : Article
Life sciences : Genetics & genetic processes
Parkinson's disease: one biochemical pathway to fit all genes?
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Eberhardt, Olaf [> >]
Riess, Olaf [> >]
Schulz, Jorg B. [> >]
Trends in molecular medicine
Yes (verified by ORBilu)
[en] Animals ; Genotype ; Humans ; Ligases/genetics ; Models, Biological ; Mutation ; Nerve Tissue Proteins/genetics ; Parkinson Disease/genetics/metabolism ; Phenotype ; Synucleins ; Thiolester Hydrolases/genetics ; Ubiquitin Thiolesterase ; Ubiquitin-Protein Ligases ; alpha-Synuclein
[en] Although originally discounted, hereditary factors have emerged as the focus of research in Parkinson's disease (PD). Genetic studies have identified mutations in alpha-synuclein and ubiquitin C-terminal hydrolase as rare causes of autosomal dominant PD and mutations in parkin as a cause of autosomal recessive PD. Functional characterization of the identified disease genes implicates the ubiquitin-mediated protein degradation pathway in these hereditary forms of PD and also in the more common sporadic forms of PD. Subsequent identification of further loci in familial PD and diverse genetic factors modulating the risk for sporadic PD point to substantial genetic heterogeneity in the disease. Thus, new candidate genes are expected to encode proteins either involved in ubiquitin-mediated protein degradation or sequestrated in intracytoplasmic protein aggregations. Future identification of disease genes is required to confirm this hypothesis, thereby unifying the clinical and genetic heterogeneity of PD, including the common sporadic form of the disease, by one biochemical pathway.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

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