胱硫醚β合酶基因突变在脑梗死患者轻度血管性认知功能障碍中的相关性研究

发布时间：2018-02-27 17:37

本文关键词： 脑梗死胱硫醚β合酶同型半胱氨酸认知功能障碍　出处：《中风与神经疾病杂志》2017年06期 　论文类型：期刊论文

【摘要】：目的研究同型半胱氨酸(homocystine,Hcy)代谢基因胱硫醚β合酶(cystathionineβsynthase,CBS)基因T833C突变在急性脑梗死后轻度血管性认知功能障碍(vascular cognitve impairment,VCI)中的价值研究。方法采用扩增阻滞突变体系法检测CBS T833C基因型,对急性脑梗死分别行入院时、14 d、30 d和90 d时蒙特利尔认知评估量表(Montreal Cognitive Assessment,Mo CA)和简易精神状态量表(Mini-Mental State Examination,MMSE)评分。结果 Logistic回归分析显示Hcy可能是轻度VCI的独立危险因素(OR为1.274;95%CI 1.027~1.264,P=0.018);空腹高同型半胱氨酸血症(Hhcy)组14 d、30 d和90 d MMSE和Mo CA评分分别低于Hcy水平正常组(P0.01或0.05);各基因型入院时MMSE和Mo CA评分无差别(P0.05),而入院14 d时,C/C型MMSE和Mo CA评分低于T/T型(P0.05),随访30 d和90 d时,C/C型MMSE和Mo CA评分趋势是低于C/T和T/T型(P0.01或0.05),C/T型低于T/T型(P0.01或0.05)。结论 CBS T833C基因突变可能是引起Hhcy,间接促进了脑梗死患者VCI事件的出现,可能是VCI的遗传易感因素。
[Abstract]:Objective to study the value of cystathionine 尾 synthase (T833C) mutation in homocystine homocystine homocystin (HCH) metabolism gene in patients with mild vascular cognitive impairment (cognitve) after acute cerebral infarction. Methods the genotype of CBS T833C was detected by amplified block mutation system. The acute cerebral infarction was evaluated with the Montreal Cognitive Assessment scale (Hcy) and the Mini-Mental State examination scale (MMSE) on the 14th day and the 90th day after admission respectively. Results the Logistic regression analysis showed that Hcy might be an independent risk of mild VCI. The OR was 1.274 / 95 / CI 1.027 / 1.264g / h 0.018; the scores of MMSE and Mo CA in fasting hyperhomocysteinemia group were lower than those in normal Hcy group (P0.01 or 0.05) on day 14, respectively, and there was no difference in MMSE and Mo CA scores between different genotypes on admission, but on the 14th day after admission, the scores of C / C MMSE were significantly lower than those of normal Hcy group (P < 0.01 or 0.05), but on the 14th day after admission, the scores of C / C MMSE were not significantly different from those of control group (P < 0.05). The tendency of C / C MMSE and Mo CA score was lower than that of C / T and T / T / T / T / P / T / P / T / P / T / P / T / P / T respectively. Conclusion the mutation of CBS T833C gene may be the cause of HHcy1 or 0.05% of T / T / T / T / T group. Conclusion the mutation of CBS T833C gene may be a cause of HHcy. it may indirectly promote the development of cerebral infarction. The emergence of the VCI event, It may be the genetic predisposing factor of VCI.
【作者单位】：天津医科大学第二医院神经内科;天津医科大学第二医院检验科;
【基金】：天津市卫计委科技基金(2015KZ095)
【分类号】：R743.33

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