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首页> 外文期刊>Amyotrophic lateral sclerosis and other motor neuron disorders: Official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases >Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
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Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

机译：肌萎缩性侧索硬化症中铜/锌超氧化物歧化酶基因的十六个新突变：十年的发现，缺陷和争议

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OBJECTIVE: Since the discovery of mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) ten years ago, testing for SOD1 gene mutations has become a part of the investigation of patients with suspected motor neuron disease. We searched for novel SOD1 mutations and for clinical characteristics of patients with these mutations. METHODS: Analysis was made of patient files at the Neurogenetic DNA Diagnostic Laboratory at Massachusetts General Hospital. We also scrutinized available medical records and examined patients with the different SOD1 mutations. RESULTS: One hundred and forty eight (148) of 2045 amyotrophic lateral sclerosis (ALS) patients carried a disease-associated mutation in the SOD1 gene. The most prevalent was the A4V missense mutation, found in 41% of those patients. Sixteen novel exonic mutations (L8V, F20C, Q22L, H48R, T54R, S59I, V87A, T88ΔTAD, A89T, V97M, S105ΔSL, V118L, D124G, G141X, G147R, I151S) were found, bringing the total number of SOD1 gene mutations in ALS to 105. CONCLUSIONS: Mutations in the SOD1 gene are found both in sporadic and familial ALS cases without any definite predilection for any part of the gene. A common structural denominator for the 16 novel mutations or previously reported mutations is not obvious. Similarly, the nature of the putative acquired toxic function of mutant SOD1 remains unresolved. We conclude that patients with SOD1 mutations may infrequently show symptoms and signs unrelated to the motor systems, sometimes obscuring the diagnosis of ALS.
机译：目的：自十年前在发现编码铜/锌超氧化物歧化酶（SOD1）的基因中出现突变以来，对SOD1基因突变的测试已成为对怀疑患有运动神经元疾病的患者进行调查的一部分。我们搜索了新的SOD1突变和这些突变的患者的临床特征。方法：在马萨诸塞州总医院神经遗传学DNA诊断实验室对患者档案进行分析。我们还仔细检查了可用的医疗记录，并检查了具有不同SOD1突变的患者。结果：2045例肌萎缩性侧索硬化症（ALS）患者中有148例（148）携带了与疾病相关的SOD1基因突变。最普遍的是A4V错义突变，在41％的患者中发现。发现了16个新的外显子突变（L8V，F20C，Q22L，H48R，T54R，S59I，V87A，T88ΔTAD，A89T，V97M，S105ΔSL，V118L，D124G，G141X，G147R，I151S），从而使ALS中的SOD1基因突变总数达到了至105。结论：在散发性和家族性ALS病例中均发现SOD1基因突变，而该基因的任何部分均无明确偏爱。 16个新突变或先前报道的突变的共同结构分母并不明显。同样，突变的SOD1的假定获得的毒性功能的性质仍未解决。我们得出结论，具有SOD1突变的患者可能很少出现与运动系统无关的症状和体征，有时会掩盖ALS的诊断。

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