Mutation analysis of the neurofilament M gene in Parkinson's disease

Rejko Krüger; Christian Fischer; Thorsten Schulte; Karsten M. Strauss; Thomas Müller; Dirk Woitalla; Daniela Berg; Marcel Hungs; Rene Gobbele; Klaus Berger; Jörg T. Epplen; Olaf Riess; Ludger Schöls

doi:10.1016/S0304-3940(03)00903-0

Mutation analysis of the neurofilament M gene in Parkinson's disease

Rejko Krüger^*, Christian Fischer, Thorsten Schulte, Karsten M. Strauss, Thomas Müller, Dirk Woitalla, Daniela Berg, Marcel Hungs, Rene Gobbele, Klaus Berger, Jörg T. Epplen, Olaf Riess, Ludger Schöls

^*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

28 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	125-129
Number of pages	5
Journal	Neuroscience Letters
Volume	351
Issue number	2
DOIs	https://doi.org/10.1016/S0304-3940(03)00903-0
Publication status	Published - 13 Nov 2003
Externally published	Yes

Keywords

Genetics
Lewy bodies
Neurodegeneration
Neurofilament
Parkinson's disease
Protein degradation

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title = "Mutation analysis of the neurofilament M gene in Parkinson's disease",

abstract = "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.",

keywords = "Genetics, Lewy bodies, Neurodegeneration, Neurofilament, Parkinson's disease, Protein degradation",

author = "Rejko Kr{\"u}ger and Christian Fischer and Thorsten Schulte and Strauss, {Karsten M.} and Thomas M{\"u}ller and Dirk Woitalla and Daniela Berg and Marcel Hungs and Rene Gobbele and Klaus Berger and Epplen, {J{\"o}rg T.} and Olaf Riess and Ludger Sch{\"o}ls",

note = "Funding Information: This study has been supported by a grant of the German Research Society (DFG; Scho754/21) to L.S. and R.K. and by a grant from the Federal Ministry of Education and Research (F{\"o} 01KS9602) and the Interdisciplinary Center of Clinical Research T{\"u}bingen (IZKF) to R.K.",

year = "2003",

month = nov,

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doi = "10.1016/S0304-3940(03)00903-0",

language = "English",

volume = "351",

pages = "125--129",

journal = "Neuroscience Letters",

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T1 - Mutation analysis of the neurofilament M gene in Parkinson's disease

AU - Krüger, Rejko

AU - Fischer, Christian

AU - Schulte, Thorsten

AU - Strauss, Karsten M.

AU - Müller, Thomas

AU - Woitalla, Dirk

AU - Berg, Daniela

AU - Hungs, Marcel

AU - Gobbele, Rene

AU - Berger, Klaus

AU - Epplen, Jörg T.

AU - Riess, Olaf

AU - Schöls, Ludger

N1 - Funding Information: This study has been supported by a grant of the German Research Society (DFG; Scho754/21) to L.S. and R.K. and by a grant from the Federal Ministry of Education and Research (Fö 01KS9602) and the Interdisciplinary Center of Clinical Research Tübingen (IZKF) to R.K.

PY - 2003/11/13

Y1 - 2003/11/13

N2 - 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.

AB - 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.

KW - Genetics

KW - Lewy bodies

KW - Neurodegeneration

KW - Neurofilament

KW - Parkinson's disease

KW - Protein degradation

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VL - 351

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ER -

Mutation analysis of the neurofilament M gene in Parkinson's disease

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Keywords

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