Point Mutations at α-Synuclein Gene are not Found in Korean Familial Parkinson ’s Disease

J Korean Neurol Assoc > Volume 17(4); 1999 > Article

Journal of the Korean Neurological Association 1999;17(4): 534-540.

한국인 가족성 파킨슨병과 α-synuclein 유전자 돌연변이의 무관성

류철형, 김현숙 ·김용덕 ·김진호*·이명식

연세대학교 의과대학 영동세브란스병원 신경과,조선대학교 의과대학 신경과학교실*

Point Mutations at α-Synuclein Gene are not Found in Korean Familial Parkinson ’s Disease

Chul Hyoung Lyoo, M.D., Hyun Sook Kim, M.D., Yong Duk Kim, M.D., Jin Ho Kim, M.D.*, Myung Sik Lee, M.D.

Department of Neurology, College of Medicine Yonsei University, Yongdong Severance Hospital, Seoul, Korea Department of Neurology, College of Medicine Chosun University, Kwangju, Korea*

Abstract

Background : Recent developments of molecular biological techniques have enabled the identification of genetic abnormalities responsible for the development of familial Parkinson’s disease (PD). The α-synuclein, a major component of Lewy body in Parkinson’s disease and of non-β-amyloid components of amyloid plaques in Alzheimer’s disease, has been identified as one of the factors associated with neurodegenerative diseases. Ala53Thr (G209A) mutation in α-synuclein was found in one Italian-American (Contursi) and five unrelated Greek familial PD with autosomal dominant inheritance. Efforts to find the same mutation in many other familial and sporadic PD patients were negative. However, another mutation (Ala30Pro(G88C)) of α-synuclein was found in one German person kindred. Methods : We performed a genetic analysis to search for these two mutations in four unrelated Korean families with PD and 44 sporadic PD and 30 sporadic multisystem atrophy(MSA) patients. Results : We did not find any mutations in the index patients of four families or in sporadic PD and MSA patients. Conclusions : These findings suggest the possibility that the two identified point mutations do not cause Korean sporadic and familial PD or sporadic MSA. Further evaluation including whole exons associated with the α-synuclein gene is needed. J Kor Neurol Ass 17(4):534~540, 1999 Key Words :α-synuclein, Parkinson’s Disease, Mutation