Figlewicz D A, Garruto R M, Krizus A, Yanagihara R, Rouleau G A
Centre for Research in Neuroscience, McGill University, Montreal, P.Q., Canada.
Neuroreport. 1994 Jan 31;5(5):557-60. doi: 10.1097/00001756-199401000-00006.
Guam is one of three endemic foci whose indigenous (Chamorro) people have an unusually high incidence of fatal neurodegenerative disorders, amyotrophic lateral sclerosis (ALS) and Parkinsonism-dementia (PD). Recently, mutations in the Cu/Zn superoxide dismutase (SOD-1) gene have been identified in some familial cases of ALS. To investigate if mutations in the SOD-1 gene are also involved in the pathogenesis of ALS and PD of Guam, we analyzed the SOD-1 gene in Chamorros. No mutations were found in Chamorros with ALS or PD, indicating that mutations in the SOD-1 gene do not underlie the high-incidence neurodegenerative disorders of Guam.
关岛是三个地方性病灶之一，其本土（查莫罗）人群中致命性神经退行性疾病——肌萎缩侧索硬化症（ALS）和帕金森痴呆症（PD）的发病率异常高。最近，在一些家族性ALS病例中发现了铜/锌超氧化物歧化酶（SOD-1）基因突变。为了研究SOD-1基因突变是否也与关岛ALS和PD的发病机制有关，我们分析了查莫罗人的SOD-1基因。在患有ALS或PD的查莫罗人中未发现突变，这表明SOD-1基因突变并非关岛高发病率神经退行性疾病的病因。
