BACKGROUND Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families. OBJECTIVE To describe a Spanish family with LS, complex I deficiency in muscle, and a novel mutation in the NDUFS1 gene. DESIGN Using molecular genetic approaches, we id...

INTRODUCTION Platelet mitochondrial respiratory chain enzymes (that produce energy) are variably inhibited during human sepsis. Whether these changes occur even during other acute critical illness or are associated with impaired platelet aggregation and secretion (that consume energy) is not known. The aims of this study were firstly to compare platelet mitochondrial respiratory chain enzymes a...

BACKGROUND/AIMS In the present study, we explored reactive axygen species (ROS) production in mitochondria, the mechanism of hexavalent chromium (Cr(VI)) hepatotoxicity, and the role of protection by GSH. METHODS Intact mitochondria were isolated from rat liver tissues and mitochondrial basal respiratory rates of NADH and FADH2 respiratory chains were determined. Mitochondria were treated wit...

Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant was born at 34 weeks of gestation. On day 6, HLH was revealed by bone marrow aspiration. She died o...

In many models of programmed cell death, the mitochondrial protein AIF translocates to the nucleus, where it induces the chromatin condensation and DNA degradation. However, today it is well established that this flavoprotein is bifunctional. In addition to its lethal function in the nucleus of dying cells, AIF plays a vital bioenergetic role in healthy ones by regulating mainly the activity of...

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...

We propose a physical mechanism of conformation-induced proton pumping in mitochondrial Complex I. The structural conformations this protein are modeled as the motion piston having positive charges on both sides. A negatively charged electron attracts piston, moving other end away from site, thereby reducing its energy and allowing to populate site. When escapes, elastic forces assist return in...

Interactions between the respiratory chain and protein import complexes have been previously reported in Saccharomyces cerevisiae, but the biological significance of such interactions remains unknown. Characterization of two mitochondrial preprotein and amino acid transport proteins from Arabidopsis thaliana, NADH dehydrogenase B14.7 like (B14.7 [encoded by At2g42210]) and Translocase of the in...

INTRODUCTION We have recently demonstrated that metformin intoxication causes mitochondrial dysfunction in several porcine tissues, including platelets. The aim of the present work was to clarify whether it also causes mitochondrial dysfunction (and secondary lactate overproduction) in human platelets, in vitro and ex vivo. METHODS Human platelets were incubated for 72 hours with saline or in...