Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease

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• 作者：Sheng Deng ; Xiong Deng ; Lamei Yuan ; Zhi Song ; Zhijian Yang…
• 关键词：Parkinson disease ; The SNCA gene ; Coding region ; Mutation
• 刊名：Acta Neurologica Belgica
• 出版年：2015
• 出版时间：September 2015
• 年：2015
• 卷：115
• 期：3
• 页码：267-271
• 全文大小：355 KB
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• 作者单位：Sheng Deng (1) (2)
  Xiong Deng (2)
  Lamei Yuan (2)
  Zhi Song (3)
  Zhijian Yang (2)
  Wei Xiong (4)
  Hao Deng (2) (3)
  
  1. Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, Hunan, People鈥檚 Republic of China
  2. Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, People鈥檚 Republic of China
  3. Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, People鈥檚 Republic of China
  4. Hunan Key Laboratory of Nonresolving Inflammation and Cancer, The Third Xiangya Hospital, Central South University, Changsha, Hunan, People鈥檚 Republic of China
  
• 刊物主题：Neurosciences; Neurology; Neuroradiology; Medicine/Public Health, general;
• 出版者：Springer Milan
• ISSN：2240-2993

文摘

Parkinson disease (PD) is the second most common progressive neurodegenerative disorder. It is characterized by selective loss of dopamine-producing neurons and aggregation of alpha-synuclein (SNCA) in neurons of particular brain regions. At least 20 loci and 15 disease-causing genes have been identified. Rare missense or multiplication mutations in the SNCA gene have been reported to be involved in some familial and sporadic cases of PD. More recently, two novel pathogenic missense mutations (p.H50Q and p.G51D) were identified in the SNCA gene. To evaluate whether mutation(s) in the coding region of SNCA gene is related to PD in Chinese population, we investigated the SNCA gene in 502 PD patients of Chinese Han ethnicity from Mainland China. No pathogenic mutation was identified in the coding region of the gene. A known G to A transition (c.306 + 66G>A, rs10005233) in the intron 4, which does not potentially change splicing, was identified. Our data indicate that mutations in the coding region of the SNCA gene are not likely to be a common cause of PD in Chinese population. Keywords Parkinson disease The SNCA gene Coding region Mutation