Genetics
Obesity (2008) 16, 363–368; doi:10.1038/oby.2007.40
Effect of a Polymorphism in the ND1 Mitochondrial Gene on Human Skeletal Muscle Mitochondrial Function
Matthew R. Jackman1, E. Ravussin2, M.J. Rowe3, R. Pratley4, M.R. Milner5 and W.T. Willis6
- 1Department of Medicine, Division of Endocrinology, Metabolism, and Diabetes, University of Colorado at Denver and Health Sciences Center, Denver, Colorado, USA
- 2Pennington Biomedical Research Center, Baton Rouge, Louisiana, USA
- 3Brigham Young University, Nutrition, Dietetics and Food Science, Provo, Utah, USA
- 4University of Vermont College of Medicine, Endocrinology, Diabetes and Metabolism Division, South Burlington, Vermont, USA
- 5Health and Human Services, Office of Public Health and Science, Boston, Massachusetts, USA
- 6Department of Kinesiology, Arizona State University, Tempe, Arizona, USA
Correspondence: Matthew R. Jackman, (Matthew.Jackman@uchsc.edu)
Received 1 March 2007; Accepted 4 June 2007.
Abstract
Objective:
A non-silent polymorphism in the mitochondrial coding region of the ND1 gene, a subunit of reduced nicotinamide adenine dinucleotide (NADH) dehydrogenase is associated with resting metabolic rate (RMR) in 245 non-diabetic Pima Indians. The purpose of this investigation was to determine the effect of the ND1 gene polymorphism on mitochondrial function in 14 male Pima Indians.
Methods and Procedures:
Seven subjects with an A at site 3547 of the ND1 gene (Ile at amino acid 81), and seven with a G at this site (Val) were studied. Mitochondria were isolated from 0.8 to 1.5 g of skeletal muscle obtained by needle biopsy of the lateral quadriceps muscle. In intact mitochondria, maximal (state-3) and resting (state-4) respiration rates were measured polarographically at 37 °C with a variety of single substrates or substrate combinations. Disrupted mitochondria were analyzed for maximal capacities through the entire electron transport chain (ETC) (NADH oxidase (NADHOX)), as well as through a segment of Complex I that is independent of the ND1 component (NADH-ferricyanide (NADH-FeCN) reductase).
Results:
Mitochondria were well coupled and exhibited higher respiratory control ratios (RCRs) than rodent muscle. There were no differences between the two groups for any of the measured parameters.
Discussion:
These results indicate that the cause of the observed association between RMR and the ND1 polymorphism is not related to in vitro mitochondrial function.
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