BACKGROUND Mitochondrial diseases belong to the most severe inherited metabolic disorders affecting pediatric population. Despite detailed knowledge of mtDNA mutations and progress in identification of affected nuclear genes, diagnostics of a substantial part of mitochondrial diseases relies on clinical symptoms and biochemical data from muscle biopsies and cultured fibroblasts. METHODS To in...

PURPOSE Many solid tumors exhibit abnormal aerobic metabolism characterized by increased glycolytic capacity and decreased cellular respiration. Recently, mutations in the nuclear encoded mitochondrial enzymes fumarate hydratase and succinate dehydrogenase have been identified in certain tumor types, thus demonstrating a direct link between mitochondrial energy metabolism and tumorigenesis. Alt...

Mitochondrial complex I, the largest component of the mitochondrial respiratory chain, comprises 44 subunits of which 7 are encoded by the mitochondrial genome and the remainder by the nuclear genome. Isolated complex I deficiencies represent a major contribution within the group of respiratory chain defects. We report an atypical case carrying a homozygous NDUFS4 missense mutation, with late-o...

The mitochondrial NADH dehydrogenase complex (complex I) is of particular importance for the respiratory chain in mitochondria. It is the major electron entry site for the mitochondrial electron transport chain (mETC) and therefore of great significance for mitochondrial ATP generation. We recently described an Arabidopsis thaliana double-mutant lacking the genes encoding the carbonic anhydrase...

Mitochondrial complex I is the largest integral membrane enzyme of the respiratory chain and consists of 44 different subunits encoded in the mitochondrial and nuclear genome. Its biosynthesis is a highly complicated and multifaceted process involving at least 14 additional assembly factors. How these subunits assemble into a functional complex I and where the assembly factors come into play is...

OBJECTIVES Activity of mitochondrial respiratory chain complexes with and without mitochondrially encoded subunits was assessed in failing human myocardium together with parameters of mitochondrial gene expression. BACKGROUND Mutations and deletions in mitochondrial genome (mtDNA) sporadically accumulate in the aging myocardium. In experimental heart failure, they are discussed to be a genera...

The first and major entry point of electrons into the mitochondrial respiratory chain (MRC) 1 occurs through NADH-coenzyme Q reduc-tase (complex I). Decreased complex I activity is associated with a wide range of conditions, including inherited mitochondrial diseases and neu-rodegenerative conditions such as Parkinson disease (1–2). More than 60 natural and commercial compounds are reported to ...

Atherosclerotic cardiovascular disease is the leading cause of mortality in the Western world. Dysfunction of the mitochondrial respiratory chain and overproduction of reactive oxygen species (ROS) are associated with atherosclerosis and cardiovascular disease. Oxidation increases the atherogenecity of LDL. Oxidized LDL may be apoptotic or nonapoptotic for vascular endothelial cells (EC), depen...

Introduction: One of the main mechanisms by which diabetic complications occur is an alteration of the structure and function of proteins due to hyperglycemia. Aspirin (ASA) affects cellular pathways through different mechanisms, including glycation inhibition and antioxidant activity. The aim of the present study, as a follow up to our previous one, is to investigate the effect of long-term, h...