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首页> 外文期刊>Journal of neurology >SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.
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SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

机译：SMN2拷贝数可预测急性或慢性脊髓性肌萎缩，但不能解释兄弟姐妹的家族内变异性。

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摘要

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects motor neurons. It is caused by mutations in the survival motor neuron gene 1 (SMN1). The SMN2 gene, which is the highly homologous SMN1 copy that is present in all the patients, is unable to prevent the disease. An SMN2 dosage method was applied to 45 patients with the three SMA types (I-III) and to four pairs of siblings with chronic SMA (II-III) and different phenotypes. Our results confirm that the SMN2 copy number plays a key role in predicting acute or chronic SMA. However, siblings with different SMA phenotypes show an identical SMN2 copy number and identical markers, indicating that the genetic background around the SMA locus is insufficient to account for the intrafamilial variability. In our results, age of onset appears to be the most important predictor of disease severity in affected members of the same family.Given that SMN2 is regarded as a target for potential pharmacological therapies in SMA, the identification of genetic factors other than the SMN genes is necessary to better understand the pathogenesis of the disease in order to implement additional therapeutic approaches.
机译：脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传疾病，会影响运动神经元。它是由存活运动神经元基因1（SMN1）的突变引起的。 SMN2基因是存在于所有患者中的高度同源的SMN1拷贝，无法预防该疾病。 SMN2剂量方法应用于45种具有三种SMA类型（I-III）的患者以及四对具有慢性SMA（II-III）和不同表型的兄弟姐妹。我们的结果证实，SMN2拷贝数在预测急性或慢性SMA中起关键作用。但是，具有不同SMA表型的兄弟姐妹显示相同的SMN2拷贝数和相同的标记，表明SMA基因座周围的遗传背景不足以说明家族内的变异性。在我们的研究结果中，起病年龄似乎是同一家族中受影响患者疾病严重程度的最重要预测因素。鉴于SMN2被视为SMA潜在药理疗法的目标，可识别除SMN基因之外的遗传因素为了更好地了解该疾病的发病机制，以实施其他治疗方法必不可少。

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