Lynch Daniel, Wanglund Christian, Spathis Rita, Chan Chim W, Reiff Dana M, Lum J Koji, Garruto Ralph M
Laboratory of Biomedical Anthropology and Neurosciences, State University of New York, PO Box 6000, Binghamton, NY 13902-6000, USA.
Mitochondrion. 2008 Mar;8(2):109-16. doi: 10.1016/j.mito.2007.09.002. Epub 2007 Oct 9.
Scientific investigations of amyotrophic lateral sclerosis (ALS) and parkinsonism-dementia (PD) of Guam have implicated genetic and environmental risk factors in their etiology. Using brain tissue, we investigated mitochondrial dysfunction and report a higher frequency of somatic mutations in the light strand promoter (LSP) of the mitochondrial control region in Guam ALS and PD patients than in Guam controls, along with the presence of inherited mutations that may contribute to a novel gene-environment interaction risk model. Along with other risk factors, they demonstrate both the importance and significance of genetic and environmental contributions to Guam ALS and PD etiology.
对关岛肌萎缩侧索硬化症（ALS）和帕金森病痴呆症（PD）的科学调查表明，其病因涉及遗传和环境风险因素。我们利用脑组织研究了线粒体功能障碍，并报告称，与关岛对照组相比，关岛ALS和PD患者线粒体控制区轻链启动子（LSP）的体细胞突变频率更高，同时还存在可能导致新的基因-环境相互作用风险模型的遗传突变。与其他风险因素一起，它们证明了遗传和环境因素对关岛ALS和PD病因的重要性和意义。
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