Reference : 14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis...
Scientific journals : Article
Life sciences : Genetics & genetic processes
14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis and association studies of 14-3-3 eta.
Ubl, Andreas [> >]
Berg, Daniela [> >]
Holzmann, Carsten [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Berger, Klaus [> >]
Arzberger, Thomas [> >]
Bornemann, Antje [> >]
Riess, Olaf [> >]
Molecular Brain Research
[en] 14-3-3 Proteins ; Aged ; Alleles ; Base Sequence ; Chromosomes, Human, Pair 22 ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Immunohistochemistry ; Lewy Bodies/chemistry/metabolism ; Male ; Middle Aged ; Parkinson Disease/metabolism ; Tyrosine 3-Monooxygenase/genetics/metabolism
[en] Mutations in alpha-synuclein have been identified in some rare families with autosomal dominant Parkinson's disease (PD). The synuclein gene family shares physical and functional homology with 14-3-3 proteins and binds to 14-3-3 proteins and to its ligands. We therefore investigated whether 14-3-3 proteins are also involved in the pathogenesis of PD. Here we demonstrate that 14-3-3 proteins are colocalized with Lewy bodies in PD. We investigated the 14-3-3 eta (YWHAH) gene by mutation analysis and association studies as it maps to human chromosome 22q12.1-q13.1, a region which has been recently implicated in PD and carried out immunohistochemical studies of Lewy bodies with two different 14-3-3 eta antibodies. In 358 sporadic and familial PD patients, disease causing mutations were not identified. Furthermore, association studies with intragenic polymorphisms do not provide evidence for an involvement of 14-3-3 eta in the pathogenesis of PD. In accordance with these findings, there was no staining of substantia nigra Lewy bodies with antibodies specific for the 14-3-3 eta subunit.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

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