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Deficiency of subunits in heart mitochondrial NADH-ubiquinone oxidoreductase of a patient with mitochondrial encephalomyopathy and cardiomyopathy
Authors:M Tanaka  M Nishikimi  H Suzuki  T Ozawa  M Nishizawa  K Tanaka  T Miyatake
Affiliation:1. Division of Preventive Medicine, Brigham and Women''s Hospital and Harvard Medical School, Boston, MA, USA;2. Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA;3. Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA;4. Epidemiology, Janssen Research & Development, LLC, Titusville, NJ, USA;5. Department of Global Public Health, Karolinska Institute, Stockholm, Sweden;6. Division of Endocrinology, Diabetes and Hypertension, Brigham and Women''s Hospital and Harvard Medical School, Boston, MA, USA;7. Mars Inc., 6885 Elm St, McLean, VA 22101, USA;1. Department of Neurology, Icahn School of Medicine at Mount Sinai, NY, New York, USA 10029;2. Precision Immunology Institute and Department of Genomic Sciences, Icahn School of Medicine at Mount Sinai, NY, New York, USA 10029;3. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA 10029;4. Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA 10029;5. Geriatric Research, Education and Clinical Center, James J. Peters Veterans Affairs Medical Center, Bronx, New York, USA 10468;6. New Use Agriculture and Natural Plant Products Program, Department of Plant Biology, Rutgers University, New Brunswick, NJ, USA 08901;7. Department of Medicinal Chemistry, Ernest Mario School of Pharmacy, Piscataway, NJ, USA 08854;8. Department of Neurology, Johns Hopkins School of Medicine, Baltimore, USA, MD 21205;9. Solomon H. Snyder Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, USA, MD 21205;10. Department of Internal Medicine, Division of Neurology, Showa University School of Medicine, Tokyo, Japan;11. Department of Pharmacology, Showa University School of Medicine, Tokyo, Japan
Abstract:The heart mitochondria isolated from a patient with hypertrophic cardiomyopathy associated with mitochondrial encephalomyopathy were analyzed by immunoblotting using specific antibody against each of the purified mitochondrial energy transducing complexes from beef heart. Subunits of NADH-ubiquinone oxidoreductase (Complex I) were markedly decreased and those of cytochrome c oxidase (Complex IV) were decreased to some extent, but the deficiency of any of these subunits was only partial. On the other hand, the contents of subunits of ubiquinol-cytochrome c oxidoreductase (Complex III) were normal. These results suggest that the decreased levels of some of the Complex I subunits might be the primary cause of disorder in this patient.
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