Mutation analysis of the neurofilament M gene in Parkinson's disease
| Autor: | Jörg T. Epplen, Dirk Woitalla, Olaf Riess, Rejko Krüger, Marcel Hungs, René Gobbelé, Ludger Schöls, Christian Fischer, Thomas Müller, Thorsten Schulte, Karsten M. Strauss, Daniela Berg, Klaus Berger |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Adult
Male Parkinson's disease DNA Mutational Analysis Molecular Sequence Data Biology Protein degradation medicine.disease_cause Gene Frequency Neurofilament Proteins medicine Humans Point Mutation Genetic Predisposition to Disease Genetic Testing Allele frequency Genetics Neurons Mutation Polymorphism Genetic Lewy body Base Sequence Sequence Homology Amino Acid General Neuroscience Point mutation Neurodegeneration Brain Parkinson Disease Middle Aged medicine.disease Pedigree Amino Acid Substitution Mutation testing Female Lewy Bodies |
| Zdroj: | Neuroscience letters. 351(2) |
| ISSN: | 0304-3940 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect