Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients
| Autor: | Csaba Bognar, Marian Baldovic, Jan Benetin, Ludovit Kadasi, Andrea Zatkova |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Adult
Aged 80 and over Male Heterozygote Slovakia Polymorphism Genetic Physiology Ubiquitin-Protein Ligases Biophysics Parkinson Disease General Medicine Exons Middle Aged Protein Serine-Threonine Kinases Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Cohort Studies Mutation Humans Point Mutation Female Alleles Chromatography High Pressure Liquid Aged |
| Zdroj: | General physiology and biophysics. 32(1) |
| ISSN: | 0231-5882 |
| Popis: | Parkinson disease (PD) is a chronic neurodegenerative movement disorder characterized by selective loss of nigrostriatal dopaminergic neurons and formation of Lewy bodies. Clinical manifestations include motor impairments involving tremor, bradykinesia, postural instability and rigidity. Using dHPLC method we screened exons 31, 35, 41, 48 of the Leucine-rich repeat kinase 2 (LRRK2) gene and exons 2, 6 and 7 of Parkinson protein 2 (parkin, PARK2) genes in a cohort of 216 consecutive, unrelated Slovak patients with familial or sporadic PD, including early and late onset. By this means we aimed to detect the most common pathogenic mutations within LRRK2 (Arg1441Cys, Arg1441Gly, Arg1628Pro, Tyr1699Cys, Gly2019Ser, Ile2020Thr, Gly2385Arg) and parkin genes responsible for late and early onset forms of disease, respectively. However, none of these mutations was identified in our cohort. Heterozygous point mutation p.Arg275Trp in exon 7 of parkin gene was identified in one patient with age at onset 61 years. Furthermore, we observed the presence of one exonic (LRRK2 ex 48: 7155AG) and eight intronic polymorphisms (in LRRK2: IVS35+23TA, IVS47-91insGCCAT, IVS47-91insGCAT, IVS47-41AG, IVS47-9delT, IVS47-20CT, IVS47-90AG, in parkin: IVS2+25TC), three of which were novel. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|