Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis
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DOI：
10.1086/377158
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发表时间：
2003-08-01
影响因子：
9.8
通讯作者：
Brown, RH
中科院分区：
文献类型：
--
作者：
Sapp, PC;Hosler, BA;Brown, RH
肌萎缩侧索硬化症（ALS）是一种进展迅速的成人发病的运动神经元疾病，大约10%的ALS病例具有显性遗传特征。一个基因的突变，细胞溶质铜/锌超氧化物歧化酶（SOD 1），占25%的家族性ALS（FALS）病例。我们在16个没有证据表明SOD 1基因突变的FALS家系中进行了遗传连锁筛选，并在16号和20号染色体上鉴定了新的ALS基因座。对这些基因的分析将描绘出与运动神经元活力决定因素有关的通路，并为ALS的可能治疗提供见解。
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in similar to10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for similar to25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.