动力蛋白激活蛋白（DCTN1）基因的p150亚基与多发性硬化症
The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis.
作者信息
Münch C, Meyer R, Linke P, Meyer T, Ludolph A C, Haas J, Hemmer B
机构信息
Department of Neurology, Jewish Hospital, Berlin, Germany.
出版信息
Acta Neurol Scand. 2007 Oct;116(4):231-4. doi: 10.1111/j.1600-0404.2007.00884.x.
OBJECTIVES
Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the common features of neurodegeneration in multiple sclerosis (MS), FTD and ALS, sequence variants of the DCTN1 gene may be a contributory factor to neurodegeneration in MS.
METHODS
We investigated a total of 200 MS patients and 200 controls. A total of 100 patients had a relapsing-remitting form of MS, 100 cases were primary progressive. Sequence alterations were screened for in the coding region of DCTN1 using heteroduplex and sequence analyses.
RESULTS
Two heterozygous missense mutations (T1249I, I196V) were found in two healthy control subjects. No mutations were identified in 200 MS patients. The frequency of a known single nucleotide polymorphism (R495Q) was not significantly different between patients and controls.
CONCLUSION
The results indicate that the DCTN1 gene is probably not influencing susceptibility to neurodegeneration in MS.
目的
已在肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）患者中报道了轴突运输蛋白动力蛋白激活蛋白（DCTN1）的p150亚基发生突变。鉴于多发性硬化症（MS）、FTD和ALS在神经退行性变方面具有共同特征，DCTN1基因的序列变异可能是MS神经退行性变的一个促成因素。
方法
我们共调查了200例MS患者和200名对照。其中100例患者为复发缓解型MS，100例为原发进展型。使用异源双链分析和序列分析在DCTN1的编码区筛查序列改变。
结果
在两名健康对照者中发现了两个杂合错义突变（T1249I、I196V）。在200例MS患者中未发现突变。已知单核苷酸多态性（R495Q）在患者和对照之间的频率无显著差异。
结论
结果表明DCTN1基因可能不影响MS神经退行性变的易感性。
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