Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system

• Published in: Annals of neurology Vol. 63; no. 4; pp. 473 - 481
• Main Authors: Janssen, Antoon J. M., Schuelke, Markus, Smeitink, Jan A. M., Trijbels, Frans J. M., Sengers, Rob C. A., Lucke, Barbara, Wintjes, Liesbeth T. M., Morava, Eva, van Engelen, Baziel G. M., Smits, Bart W., Hol, Frans A., Siers, Marloes H., Ter Laak, Henk, van der Knaap, Marjo S., Van Spronsen, Francjan J., Rodenburg, Richard J. T., van den Heuvel, Lambert P.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2008; Willey-Liss
• Subjects: Adenosine - genetics; Adolescent; Adult; Biological and medical sciences; Child; Child, Preschool; Diseases of striated muscles. Neuromuscular diseases; DNA, Mitochondrial - genetics; DNA, Mitochondrial - metabolism; Electron Transport - genetics; Energy Metabolism - genetics; Female; Guanine - physiology; Humans; Infant; Male; Medical sciences; MELAS Syndrome - diagnosis; MELAS Syndrome - genetics; MELAS Syndrome - metabolism; Middle Aged; Mitochondria, Muscle - genetics; Mitochondria, Muscle - metabolism; Muscle, Skeletal - pathology; Muscle, Skeletal - physiology; Mutation - genetics; Neurology; Mitochondria; Nervous system diseases; Mutation

Objective The mitochondrial energy‐generating system (MEGS) encompasses the mitochondrial enzymatic reactions from oxidation of pyruvate to the export of adenosine triphosphate. It is investigated in intact muscle mitochondria by measuring the pyruvate oxidation and adenosine triphosphate production...