Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts
| Autor: | Jörg T. Epplen, Jan Petter Larsen, Dirk Woitalla, Gabriele Dekomien, Thomas Müller, Martin Wilhelm Kurz, Anna Melissa Schlitter |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Adult
Heterozygote Ubiquitin-Protein Ligases Mutation Missense Single-nucleotide polymorphism medicine.disease_cause Polymorphism Single Nucleotide Parkin Cohort Studies Loss of heterozygosity Polymorphism (computer science) Germany Humans Medicine Missense mutation Genetic Predisposition to Disease Age of Onset Allele Aged Genetics Mutation Norway business.industry Genetic Variation Parkinson Disease General Medicine Middle Aged Introns Neurology Cohort Neurology (clinical) business |
| Zdroj: | Acta Neurologica Scandinavica. 113:9-13 |
| ISSN: | 1600-0404 0001-6314 |
| DOI: | 10.1111/j.1600-0404.2005.00532.x |
| Popis: | Objectives – Mutations in the Parkin gene can cause autosomal recessive early-onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late-onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late-onset form of PD. Mutation and polymorphism frequencies were compared via single-strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late-onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late-onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late-onset forms of PD in rare cases. |
| Databáze: | OpenAIRE |
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