Reference : Mutation analysis of the neurofilament M gene in Parkinson's disease.
Scientific journals : Article
Life sciences : Genetics & genetic processes
Mutation analysis of the neurofilament M gene in Parkinson's disease.
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Fischer, Christian [> >]
Schulte, Thorsten [> >]
Strauss, Karsten M. [> >]
Muller, Thomas [> >]
Woitalla, Dirk [> >]
Berg, Daniela [> >]
Hungs, Marcel [> >]
Gobbele, Rene [> >]
Berger, Klaus [> >]
Epplen, Jorg T. [> >]
Riess, Olaf [> >]
Schols, Ludger [> >]
Neuroscience Letters
Yes (verified by ORBilu)
[en] Adult ; Amino Acid Substitution/genetics ; Base Sequence/genetics ; Brain/metabolism/pathology/physiopathology ; DNA Mutational Analysis ; Female ; Gene Frequency/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Humans ; Lewy Bodies/genetics/metabolism ; Male ; Middle Aged ; Molecular Sequence Data ; Neurofilament Proteins/deficiency/genetics ; Neurons/metabolism/pathology ; Parkinson Disease/genetics/metabolism ; Pedigree ; Point Mutation/genetics ; Polymorphism, Genetic/genetics ; Sequence Homology, Amino Acid
[en] Neurofilament M, a major component of Lewy bodies, represents an interesting candidate in the pathogenesis of Parkinson's disease (PD). We performed detailed mutation analyses of the NF-M gene in 322 familial and sporadic PD patients. Two polymorphisms (Ala475Thr and Gly697Arg) occurred at similar frequencies in PD patients and controls. A Pro725Gln substitution and a deletion of valine in position 829 were identified in two PD patients. These substitutions affect residues of the NF-M protein that are highly conserved among different species. None of our patients carried the Gly336Ser substitution, which has been described in familial PD. Our results argue against a major role of NF-M in PD. However, rare variants of the NF-M gene may act as susceptibility factors for PD and functional analyses of the identified variations are warranted to decipher possible mechanisms in neurodegeneration.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

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