Shaw P J
Nat Genet. 2001 Oct;29(2):103-4. doi: 10.1038/ng1001-103.
Amyotrophic lateral sclerosis (ALS) is a common neurodegenerative disease causing cell death of motor neurons and progressive muscle weakness. The disease is familial in ten percent of cases, of which one-fifth are due to mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1). Two papers in this issue of Nature Genetics describe homozygous mutations in a new gene on chromosome 2q33 in 4 families of Arabian origin with a rare form of juvenile onset ALS (ALS2). The predicted protein structure has domains homologous to GTPase regulatory proteins, and both the types of mutation and the pattern of inheritance suggest that motor neuron degeneration is the result of a loss of function. Further work will determine the relevance of this breakthrough to other, more common forms of ALS.
肌萎缩侧索硬化症（ALS）是一种常见的神经退行性疾病，可导致运动神经元细胞死亡和进行性肌肉无力。该疾病在10%的病例中呈家族性，其中五分之一是由于编码铜/锌超氧化物歧化酶（SOD1）的基因突变所致。本期《自然遗传学》上的两篇论文描述了4个阿拉伯裔家族中2q33染色体上一个新基因的纯合突变，这些家族患有罕见的青少年型ALS（ALS2）。预测的蛋白质结构具有与GTPase调节蛋白同源的结构域，突变类型和遗传模式均表明运动神经元变性是功能丧失的结果。进一步的研究将确定这一突破与其他更常见形式的ALS的相关性。
