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首页> 外文期刊>eNeurologicalSci >Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?
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Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

机译：存活的运动神经元拷贝数变异在马里散发性肌萎缩性侧索硬化的发作和严重程度中是否起作用？

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Introduction Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron ( SMN ) 1 gene. High or low SMN1 copy number and the absence of SMN2 have been reported as risk factors for the development or severity of SALS. Objective To investigate the role of SMN gene copy number in the onset and severity of SALS in Malians. Material and Methods We determined the SMN1 and SMN2 copy number in genomic DNA samples from 391 Malian adult volunteers, 120 Yoruba from Nigeria, 120 Luyha from Kenya and 74 U.S. Caucasians using a Taqman quantitative PCR assay. We evaluated the SALS risk based on the estimated SMA protein level using the Veldink formula ( SMN1 copy number + 0.2? SMN2 copy number). We also characterized the disease natural history in 15 ALS patients at the teaching hospital of Point G, Bamako, Mali. Results We found that 131 of 391 (33.5%) had an estimated SMN protein expression of ≤2.2; 60 out of 391 (15.3%) had an estimated SMN protein expression <2 and would be at risk of ALS and the disease onset was as early as 16years old. All 15 patients were male and some were physically handicapped within 1–2years in the disease course. Conclusion Because of the short survival time of our patients, family histories and sample DNA for testing were not done. However, our results show that sporadic ALS is of earlier onset and shorter survival time as compared to patients elsewhere. We plan to establish a network of neurologists and researchers for early screening of ALS.
机译：简介脊髓性肌萎缩症（SMA）和偶发性肌萎缩性侧索硬化症（SALS）都是运动神经元疾病。 SMA是由生存运动神经元（SMN）1基因缺失引起的。据报道，SMN1拷贝数高或低以及SMN2缺失是SALS发生或严重程度的危险因素。目的探讨SMN基因拷贝数在马里人SALS发病和严重程度中的作用。材料和方法我们使用Taqman定量PCR测定法测定了391名马里成年志愿者，120名尼日利亚的约鲁巴人，120名肯尼亚的Luyha和74名美国白种人的基因组DNA样品中的SMN1和SMN2拷贝数。我们使用Veldink公式（SMN1拷贝数+ 0.2？SMN2拷贝数）根据估计的SMA蛋白水平评估了SALS风险。我们还在马里巴马科Point G教学医院对15名ALS患者的疾病自然病史进行了表征。结果我们发现391个样本中有131个（33.5％）的SMN蛋白表达估计≤2.2; 391名患者中有60名（15.3％）的SMN蛋白表达估计低于2，并且有发生ALS的风险，该病的发病时间早于16岁。在该病程中，所有15例患者均为男性，其中一些在1-2年内有身体残障。结论由于我们患者的生存时间短，因此未进行家族史和样本DNA检测。但是，我们的结果表明，与其他地区的患者相比，散发性ALS发病更早，生存时间更短。我们计划建立神经病学家和研究人员网络，以进行ALS的早期筛查。

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