Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.
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.
Rahner
Nils
N
Department of Medical Genetics, Children's Hospital, University Rostock, Rembrandt Strasse 16/17, 18055, Rostock, Germany.
Holzmann
Carsten
C
Krüger
Rejko
R
Schöls
Ludger
L
Berger
Klaus
K
Riess
Olaf
O
D000368:Aged; D001921:Brain / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D016631:Lewy Bodies / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016900:Neurofilament Proteins / Q000235:genetics*; D009474:Neurons / Q000378:metabolism* / Q000473:pathology; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D012689:Sequence Homology, Nucleic Acid
D016900:Neurofilament Proteins; C044882:neurofilament protein L; D004247:DNA