A Single-Nucleotide Polymorphism of PARK2 Affects the Phenotype in Sporadic Parkinson Disease

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Objective: Sporadic Parkinson's disease (PD) is thought to be a complex multifactorial, age-related neurodegenerative disease caused by the interaction between genetic and environmental factors. Whether PARK2, a major responsible gene causing familial PD, affects to the disease susceptibility or the phenotypic variability in sporadic PD remains controversial. In this study, we perform the sequence analysis of PARK2 and assess the correlation between clinical features of sporadic PD patients and the detected variants. Materials and Methods: A total of 92 sporadic PD patients were sequenced and underwent the clinical examinations. MIBG scintigraphy was performed in 61 patients and the cardiac uptake was measured as the heart/mediastinum (H/M) ratio. Results: We only detected two novel variants (R51R, L272I) in 3 patients and three common polymorphisms, S167N, V380L, and R366W, which had the allele frequencies of 38.6%, 7% and 0.5%, respectively. There were no significant difference of the allele frequencies between patients and controls. On the evaluation of clinical features, the patients with S167N had the younger onsets of age and the tendency of preserved cardiac uptake of MIBG in the early Hoehn and Yahr (HY) stage compared to the patients without S167N. Conclusions: These results suggest the common polymorphisms of PARK2 might affect the phenotype of sporadic PD without altered susceptibility to PD.
長崎大学医学部の論文