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首页> 外文期刊>Journal of neurology >Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.
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Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.

机译：在患有肌萎缩性侧索硬化症的德国患者中鉴定新型血管生成素（ANG）基因错义变体。

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Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease characterized by the selective death of motor neurons in the motor cortex, brain stem and spinal cord. Recently, missense variants in the angiogenin gene (ANG), an angiogenic factor expressed in ventral horn motor neurons that is up-regulated by hypoxia, have been found in ALS patients of Irish/Scottish, North American, Italian, French and Dutch descent. To investigate the role of ANG in the German population, we screened for mutations by sequencing the entire coding region of the ANG gene in a large sample of 581 German ALS cases and 616 sex- and age-matched healthy controls. We identified two heterozygous missense variants, F(-13)L and K54E, in two German sporadic ALS cases but not in controls. Both missense variants are novel and have not been previously found in ALS cases. Our results suggest that missense variants in the ANG gene play a role in ALS in the German population and provide further evidence to support the hypothesis that angiogenic factors up-regulated by hypoxia are involved in the pathophysiology of ALS.
机译：肌萎缩性侧索硬化症（ALS）是一种致命的进行性神经退行性疾病，其特征在于运动皮层，脑干和脊髓中运动神经元的选择性死亡。最近，在爱尔兰/苏格兰，北美，意大利，法国和荷兰裔后裔的ALS患者中发现了血管生成素基因（ANG）的错义变体，该基因是由缺氧上调的在腹角运动神经元中表达的血管生成因子。为了调查ANG在德国人群中的作用，我们通过对581个德国ALS病例和616个性别和年龄匹配的健康对照样本中的ANG基因的整个编码区进行测序，筛选了突变。我们在两个德国散发性ALS病例中发现了两个杂合的错义变体F（-13）L和K54E，但在对照中却没有。这两种错义变体都是新颖的，以前在ALS病例中尚未发现。我们的结果表明，ANG基因的错义变异体在德国人群的ALS中起着作用，并提供了进一步的证据来支持由缺氧上调的血管生成因子参与ALS病理生理的假说。

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