The contribution of mitochondrial dysfunction to a gene–environment model of Guamanian ALS and PD

• DOI: 10.1016/j.mito.2007.09.002
• Publication Date: 2007-10-11T16:54:46Z
• Authors: Daniel Lynch; Christian Wanglund; Rita Spathis; Chim W. Chan; Dana M. Reiff; J. Koji Lum; Ralph M. Garruto
• Keywords: Male; 0301 basic medicine; 0303 health sciences; Mitochondrial Diseases; Amyotrophic Lateral Sclerosis; Age Factors; Environmental Exposure; Environment; DNA, Mitochondrial; 3. Good health; 03 medical and health sciences; Sex Factors; Parkinsonian Disorders; Risk Factors; Guam; Humans; Female; Genetic Predisposition to Disease; Promoter Regions, Genetic

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.