Point Mutations at alpha-Synuclein Gene are not Found in Korean Familial Parkinson's Disease.
- Author:
Chul Hyoung LYOO
1
;
Hyon Sook KIM
;
Yong Duk KIM
;
Jin Ho KIM
;
Myung Sik LEE
Author Information
1. Department of Neurology, College of Medicine Yonsei University, Yongdong Severance Hospital, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
alpha-synuclein;
Parkinson's Disease;
Mutation
- MeSH:
alpha-Synuclein*;
Alzheimer Disease;
Exons;
Humans;
Lewy Bodies;
Neurodegenerative Diseases;
Parkinson Disease*;
Plaque, Amyloid;
Point Mutation*;
Wills
- From:Journal of the Korean Neurological Association
1999;17(4):534-540
- CountryRepublic of Korea
- Language:Korean
-
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 alpha-synuclein, a major component of Lewy body in Parkinson's disease and of non-beta-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 alpha-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 alpha-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 alpha-synuclein gene is needed.
