The contribution of mitochondrial dysfunction to a gene-environment model of Guamanian ALS and PD.
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.
Laboratory of Biomedical Anthropology and Neurosciences, State University of New York, PO Box 6000, Binghamton, NY 13902-6000, USA.
Daniel
D
Lynch
Christian
C
Wanglund
Rita
R
Spathis
Chim W
CW
Chan
Dana M
DM
Reiff
J Koji
JK
Lum
Ralph M
RM
Garruto
D000367:Age Factors; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D004777:Environment; D004781:Environmental Exposure / Q000009:adverse effects; D005260:Female; D020022:Genetic Predisposition to Disease; D006141:Guam / Q000453:epidemiology; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000209:etiology* / Q000235:genetics; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors; D012737:Sex Factors
D004272:DNA, Mitochondrial