Point Mutations at -Synuclein Gene are not Found in Korean Familial Parkinson s Disease
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1 Point Mutations at -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* 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 -synuclein, a major component of Lewy body in Parkinson s disease and of non- -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 -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 -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 -synuclein gene is needed. J Kor Neurol Ass 17(4):534~540, 1999 Key Words : -synuclein, Parkinson s Disease, Mutation Myung Sik Lee, M.D. 534 Copyright 1999 by the Korean Neurological Association
2 Table 1. Summary of characteristics of Korean patients with familial Parkinson s disease. family patient age age at response to symptoms and signs onset levodopa A II-1 56 d 50 - bradykinesia, dysarthria, microphonia III-1 44 d 42 good bradykinesia, gait disturbance *III-3 41 d 38 good bradykinesia, rigidity, festinating gait, eye movement abnormality, peak dose dyskinesia 1.5yrs after levodopa treatment I-2 94 d seventies - unilateral rest tremor, festinating gait at late eighties B II-1 89 d mid sixties - rest tremor, postural tremor, festinating gait at late eighties *III-7 53 d 52 moderate unilateral rest tremor, bradykinesia, rigidity, C *I-2 81 d late fifties good rest tremor, bradykinesia, rigidity, severe gait disturbance, festinating gait II-3 60 d 46 good rest tremor, severe gait disturbance, rapid progression I-1 80 d - - postural tremor III-1 80 d 60 - unilateral rest tremor D III-3 73 d 67 - unilateral rest tremor *III-5 67 d 60 moderate gait disturbance, memory impairment, acalculia, dystonia d age at death suspicious individual * genetic study performed - data not available J Kor Neurol Ass / Volume 17 / July,
3 Figure 1A. Pedigree of family A Figure 1B. Pedigree of family B 536 J Kor Neurol Ass / Volume 17 / July, 1999
4 Figure 1C. Pedigree of family C Figure 1D. Pedigree of family D J Kor Neurol Ass / Volume 17 / July,
5 Figure 2. Gene study of four patients with familial Parkinson s disease.(lane 1) 100bp DNA marker(gibco BRL),(Lane 2-5) 216bp sized exon 4 amplimer undigested by Tsp45I,(Lane 6) control 151 & 136bp sized RFLP marker band. Original 287bp sized amplimer contains one Tsp45I restriction site.(lane 7-10) 395bp sized exon 3 amplimer undi - gested by Bst2UI,(Lane 11) control 117 & 100bp sized RFLP marker band. Original 217bp sized amplimer contains one Bst2UI restriction site. The letters A, B, C and D denote the family names. 538 J Kor Neurol Ass / Volume 17 / July, 1999
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