Reference : Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.
Scientific journals : Article
Life sciences : Genetics & genetic processes
Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.
Rahner, Nils [> >]
Holzmann, Carsten [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Schols, Ludger [> >]
Berger, Klaus [> >]
Riess, Olaf [> >]
Brain research
Yes (verified by ORBilu)
[en] Aged ; Brain/metabolism/pathology/physiopathology ; DNA/genetics ; DNA Mutational Analysis ; Exons/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Humans ; Lewy Bodies/genetics/metabolism ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation/genetics ; Neurofilament Proteins/genetics ; Neurons/metabolism/pathology ; Parkinson Disease/genetics/physiopathology ; Sequence Homology, Nucleic Acid
[en] Mutations in two genes, alpha-synuclein and parkin, have been identified as some rare causes for familial Parkinson's disease (PD). alpha-Synuclein and parkin protein have subsequently been identified in Lewy bodies (LB). To gain further insight into the pathogenesis of PD we investigated the role of neurofilament light (NF-L), another component of LB aggregation. A detailed mutation search of the NF-L gene in 328 sporadic and familial PD patients of German ancestry revealed three silent DNA changes (G163A, C224T, C487T) in three unrelated patients. Analysis of the promoter region of the NF-L gene identified a total of three base pair substitutions defining five haplotypes. Association studies based on these haplotypes revealed no significant differences between PD patients and 344 control individuals. Therefore, NF-L is unlikely to play a major role in the pathogenesis of PD.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

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