AMYOTROPHIC-LATERAL-SCLEROSIS ASSOCIATED WITH HOMOZYGOSITY FOR AN ASP90ALA MUTATION IN CUZN-SUPEROXIDE DISMUTASE
AMYOTROPHIC-LATERAL-SCLEROSIS ASSOCIATED WITH HOMOZYGOSITY FOR AN ASP90ALA MUTATION IN CUZN-SUPEROXIDE DISMUTASE
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DOI：
10.1038/ng0595-61
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发表时间：
1995-05-01
期刊：
影响因子：
30.8
通讯作者：
MARKLUND, SL
中科院分区：
文献类型：
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作者：
ANDERSEN, PM;NILSSON, P;MARKLUND, SL
最近的报告显示，家族性肌萎缩性侧索硬化症（FALS）患者中大约有20种不同的cuzn -超氧化物歧化酶（CuZn-SOD）基因突变存在杂合性，并且从患者中分析的样本显示酶活性下降。在这里，我们报告了来自瑞典和芬兰的4个不相关的ALS家族和4个明显散发性ALS患者的14例患者的外显子4突变Asp90Ala的纯合性。红细胞CuZn-SOD活性基本正常。我们的研究结果表明，这种CuZn-SOD突变通过功能的获得而不是丧失导致ALS，并且Asp90Ala突变比以前报道的突变危害更小。
Recent reports have shown heterozygosity for some twenty different mutations in the CuZn-superoxide dismutase (CuZn-SOD) gene in familial amyotrophic lateral sclerosis (FALS), and analysed samples from patients have shown decreased enzymic activity. Here we report homozygosity for an exon 4 mutation, Asp90Ala in fourteen patients among four unrelated ALS families and four apparently sporadic ALS patients from Sweden and Finland. The erythrocyte CuZn-SOD activity is essentially normal. Our findings suggest that this CuZn-SOD mutation causes ALS by a gain of function rather than by loss, and that the Asp90Ala mutation is less detrimental than previously reported mutations.