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首页> 外文期刊>Gene expression >Septin 3 gene polymorphism in Alzheimer's disease.
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Septin 3 gene polymorphism in Alzheimer's disease.

机译：Septin 3基因多态性与阿尔茨海默氏病有关。

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摘要

Septin 3 is a novel member of the septin subfamily of GTPase domain proteins that was recently identified in human neuronal cells. These proteins are involved in vesicle trafficking, neurite outgrowth, and neurofibrillary tangle formation; however, the expression and functional role of septin 3 in normal neuronal tissues and as an etiological agent in neurological disorders is currently unclear. To further characterize these parameters, the present study analyzed the expression of three isoforms of septin 3 (A, B, and C) in fetal and adult human brains and polymorphism of the septin 3 exon 11 microsatellite in control, pure Alzheimer's disease (AD), Lewy body variant (LBV) of AD, and Parkinson's disease. Septin 3 mRNAs for isoforms A and B, but not C, were detected in the frontal cortex of fetus and adult human samples, as measured by reverse transcription-coupled polymerase chain reaction. Genotype analyses indicated that polymorphic septin 3 alleles were distributed in two peaks of frequency in both control and disease groups. Categorization of the alleles into short (S) and long (L) types revealed a significant difference between AD patients and controls (p = 0.034 by chi-square test). Furthermore, the S-allele homozygosity was significantly underrepresented in AD compared with control (p = 0.015 by chi-square test). These results suggest that polymorphism in exon 11 of septin 3 may have a determinative role in the pathogenesis of AD.
机译：Septin 3是最近在人类神经元细胞中发现的GTPase域蛋白septin亚家族的新成员。这些蛋白质与囊泡运输，神经突增生和神经原纤维缠结有关。然而，目前尚不清楚septin 3在正常神经元组织中的表达和功能作用以及在神经系统疾病中作为病因的作用。为了进一步表征这些参数，本研究分析了在人和成年人的大脑和成人中大脑中Septin 3的三种亚型（A，B和C）的表达以及septin 3外显子11微卫星的多态性。 ，AD的路易体变种（LBV）和帕金森氏病。通过逆转录偶联聚合酶链反应测定，在胎儿和成年人类样品的额叶皮层中检出了亚型A和B，但未检出C的Septin 3 mRNA。基因型分析表明，在对照组和疾病组中，多态性septin 3等位基因均以两个频率峰值分布。将等位基因分类为短（S）型和长（L）型揭示了AD患者和对照之间的显着差异（卡方检验p = 0.034）。此外，与对照组相比，AD中的S-等位基因纯合性明显不足（按卡方检验，p = 0.015）。这些结果表明，septin 3外显子11中的多态性可能在AD的发病机制中起决定性作用。

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