新疆维吾尔族脊髓小脑性共济失调12亚型（SCA12）患者血浆α-synuclein表达水平的研究

发布时间：2018-04-17 20:41

本文选题：遗传性脊髓小脑型共济失调 + α-突触核蛋白　；参考：《新疆医科大学》2014年硕士论文

【摘要】：目的：探讨新疆维吾尔族带有帕金森症状的遗传性脊髓小脑型共济失调12型的血浆中是否伴有α-突触核蛋白的异常聚集,其发病是否与帕金森病的发病机制相似,是否为其异常聚集所致。方法：依据Harding标准,收集一个维吾尔族家系,临床诊断为脊髓小脑共济失调患者16人,家系症状前患者5人,正常28人进行ELISA法提取血浆a-突触核蛋白。该家系在本课题之前已经证实为SCA12,其应用聚合酶链反应、琼脂糖凝胶电泳、T载体克隆重组DNA技术并结合直接测序等技术确诊,此次又对其致病基因CAG三核苷酸病理重复次数突变加以分析,以SARA评分量表反映共济失调患者的病情严重程度。结果：(1)患者组与症状前患者组、正常对照组三组α-突触核蛋白表达水平不完全相同(P0.05),SCA12患者组浓度的总体平均值最高。但是SCA12患者发病年龄、病程与α-突触核蛋白浓度无相关关系。(2)三组CAG序列重复次数不完全相同(P0.05),其中SCA12患者组和症状前患者组,患者组和正常对照组CAG序列重复次数的差异具有统计学意义,正常对照组CAG序列重复次数总体平均值最少。SCA12患者发病年龄、病程与CAG序列重复次数无相关关系。(3) SCA12患者病程与SARA评分两变量呈正相关关系。SCA12患者病程越长,SARA评分越高,共济失调患者的病情越严重。结论：SCA12患者体内有a-突触核蛋白异常聚集,可能参与SCA12的发病。SCA12患者CAG序列重复次数高;SCA12病程越长,SARA评分越高。
[Abstract]:Objective: to investigate whether abnormal aggregation of 伪 -synaptophysin is present in the plasma of hereditary cerebellar ataxia type 12 with Parkinson's syndrome in Xinjiang Uygur, and whether the pathogenesis is similar to that of Parkinson's disease.Whether it is caused by its abnormal aggregation.Methods: according to Harding standard, a Uygur family was collected. 16 patients were diagnosed as spinocerebellar ataxia, 5 patients were diagnosed as presymptomatic patients, and 28 normal subjects were extracted plasma a- synaptic nucleoprotein by ELISA method.SCA12 was confirmed by PCR, agarose gel electrophoresis T vector clone and recombinant DNA technique, and combined with direct sequencing.This time, the mutation of CAG trinucleotide repeat was analyzed, and the severity of ataxia was reflected by SARA scale.Results the average level of 伪 -synaptophysin expression was not the same as that of P0.05 and SCA12 in the patients group and the pre-symptom group, and the average level of 伪 -synaptophysin in the normal control group was the highest.However, there was no correlation between onset age, course of disease and 伪 -synaptophysin concentration in patients with SCA12.There was significant difference in the repeat number of CAG sequence between the patient group and the normal control group. The average number of repeat times of the CAG sequence in the normal control group was the lowest. The onset age of the patients with SCA12 was the lowest.There was no correlation between the course of disease and the repeat number of CAG sequence. 3) there was a positive correlation between the course of disease and the SARA score in patients with SCA12. The longer the course of disease was, the higher the score of SARA was, and the more serious the condition of ataxia was.Conclusion there is abnormal aggregation of a-synaptic nucleoprotein in patients with SCA12, which may be involved in the pathogenesis of SCA12. The longer the course of SCA12 is, the higher the score of SARA may be.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R744.7

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