Read by QxMD icon Read


Michel van Schaardenburgh, Martin Wohlwend, Øivind Rognmo, Erney J R Mattsson
PURPOSE: Mitochondria are essential for energy production in the muscle cell and for this they are dependent upon a sufficient supply of oxygen by the circulation. Exercise training has shown to be a potent stimulus for physiological adaptations and mitochondria play a central role. Whether changes in mitochondrial respiration are seen after exercise in patients with a reduced circulation is unknown. The aim of the study was to evaluate the time course and whether one session of calf raise exercise stimulates mitochondrial respiration in the calf muscle of patients with peripheral vascular disease...
2016: PloS One
Kristi Bentler, Shaohui Zhai, Sara A Elsbecker, Georgianne L Arnold, Barbara K Burton, Jerry Vockley, Cynthia A Cameron, Sally J Hiner, Mathew J Edick, Susan A Berry
INTRODUCTION: There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening. METHODS: Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism - Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed...
September 2016: Molecular Genetics and Metabolism
Alexandre Umpierrez Amaral, Cristiane Cecatto, Janaína Camacho da Silva, Alessandro Wajner, Kálita Dos Santos Godoy, Rafael Teixeira Ribeiro, Moacir Wajner
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is biochemically characterized by tissue accumulation of octanoic (OA), decanoic (DA) and cis-4-decenoic (cDA) acids, as well as by their carnitine by-products. Untreated patients present episodic encephalopathic crises and biochemical liver alterations, whose pathophysiology is poorly known. We investigated the effects of OA, DA, cDA, octanoylcarnitine (OC) and decanoylcarnitine (DC) on critical mitochondrial functions in rat brain and liver. DA and cDA increased resting respiration and diminished ADP- and CCCP-stimulated respiration and complexes II-III and IV activities in both tissues...
September 2016: Biochimica et Biophysica Acta
Peter Schönfeld, Georg Reiser
According to recent reports, systemic treatment of rats with methylpalmoxirate (carnitine palmitoyltransferase-1 inhibitor) decreased peroxidation of polyunsaturated fatty acids in brain tissue. This was taken as evidence of mitochondrial β-oxidation in brain, thereby contradicting long-standing paradigms of cerebral metabolism, which claim that β-oxidation of activated fatty acids has minor importance for brain energy homeostasis. We addressed this controversy. Our experiments are the first direct experimental analysis of this question...
April 7, 2016: Journal of Cerebral Blood Flow and Metabolism
Edward Ojuka, Brittany Andrew, Nicole Bezuidenhout, Siddiqah George, Gerald Maarman, Hlengiwe P Madlala, Amy Mendham, Prisca Ofure Osiki
Oxidation of fatty acids is a major source of energy in the heart, liver, and skeletal muscle. It can be measured accurately using respirometry in isolated mitochondria, intact cells, and permeabilized cells or tissues. This technique directly measures the rate of oxygen consumption or flux at various respiratory states when appropriate substrates, uncouplers, and inhibitors are used. Acylcarnitines such as palmitoylcarnitine or octanoylcarnitine are the commonly used substrates. The β-oxidation pathway is prone to feedforward inhibition resulting from accumulation of short-chain acyl-CoA and depletion of CoA, but inclusion of malate or carnitine prevents accumulation of these intermediaries and CoA depletion...
May 1, 2016: American Journal of Physiology. Endocrinology and Metabolism
Roanna S George, Stuart J Moat
BACKGROUND: The analysis of dried blood spots has been used routinely for newborn screening since the early 1970s, and the number of disorders screened has expanded substantially in recent years. However, there is a lack of evidence regarding minimum blood spot quality acceptance criteria for sample analysis. METHODS: Blood pools were spiked with phenylalanine, tyrosine, leucine, methionine, octanoylcarnitine, decanoylcarnitine, isovalerylcarnitine, glutarylcarnitine, thyroid-stimulating hormone, and immunoreactive trypsinogen to concentrations at the analytical cutoffs used in UK screening protocols...
March 2016: Clinical Chemistry
Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Georg F Hoffmann, Claus R Bartram, Katrin Hinderhofer, Peter Burgard, Martin Lindner
BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is included in many newborn screening programmes worldwide. In addition to the prevalent mutation c.985A>G in the ACADM gene, potentially mild mutations like c.199T>C are frequently found in screening cohorts. There is ongoing discussion whether this mutation is associated with a clinical phenotype. METHODS: In 37 MCADD patients detected by newborn screening, biochemical phenotype (octanoylcarnitine (C8), ratios of C8 to acetylcarnitine (C2), decanoylcarnitine (C10) and dodecanoylcarnitine (C12) at screening and confirmation) and clinical phenotype (inpatient emergency treatment, metabolic decompensations, clinical assessments, psychometric tests) were assessed in relation to genotype...
2015: JIMD Reports
Minjoo Kim, Saem Jung, Sang-Hyun Lee, Jong Ho Lee
Existing data on the association between being overweight and cardiovascular morbidity and mortality risk in adults are inconsistent. We prospectively and longitudinally investigated the effects of weight on arterial stiffness and plasma metabolites in middle-aged subjects (aged 40-55 years). A group of 59 individuals who remained within the range of overweight during repeated measurements over a 3-year period was compared with a control group of 59 normal weight subjects who were matched for age and gender...
2015: PloS One
Patricia L Hall, Angela Wittenauer, Arthur Hagar
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a fatty acid oxidation disorder included on newborn screening (NBS) panels in many regions that have expanded to using tandem mass spectrometry for acylcarnitine screening. False positive (FP) screening results for MCAD deficiency have previously been linked to very low birth weight (VLBW) infants and those who are heterozygous for the common mutation, p.K324E. Previous studies have identified these causes of FP screens by sequencing residual dried blood spots...
December 2014: Molecular Genetics and Metabolism
Amelia Guadalupe-Grau, Ulla Plenge, Signe Helbo, Marianne Kristensen, Peter Riis Andersen, Angela Fago, Bo Belhage, Flemming Dela, Jørn Wulff Helge
The present investigation was performed to elucidate if the non-erythropoietic ergogenic effect of a recombinant erythropoietin treatment results in an impact on skeletal muscle mitochondrial and whole body fatty acid oxidation capacity during exercise, myoglobin concentration and angiogenesis. Recombinant erythropoietin was administered by subcutaneous injections (5000 IU) in six healthy male volunteers (aged 21 ± 2 years; fat mass 18.5 ± 2.3%) over 8 weeks. The participants performed two graded cycle ergometer exercise tests before and after the intervention where VO2max and maximal fat oxidation were measured...
2015: Journal of Sports Sciences
Valerie Walker, Graham A Mills
Production of 2-pentanone, a methylketone, is increased in fasting ketotic humans. Its origin is unknown. We hypothesised that it is formed via β -oxidation of hexanoic acid by the peroxisomal pathway proposed for methylketone-producing fungi and yeasts. We used Penicillium roqueforti cultured on fat (margarine) to investigate 2-pentanone production. Headspace gas of incubates of the mould with a range of substrates was analysed using solid-phase microextraction with gas chromatography-mass spectrometry. Consistent with the proposed pathway, 2-pentanone was formed from hexanoic acid, hexanoyl-CoA, hexanoylcarnitine, and ethyl-3-oxohexanoic acid but not from ethylhexanoic, 2-ethylhexanoic, octanoic, or myristic acids, octanoylcarnitine, or pentane...
2014: TheScientificWorldJournal
I Kancirova, M Jasova, M Murarikova, S Carnicka, Z Sumbalova, O Ulicna, O Vancova, I Waczulikova, A Ziegelhoffer, M Ferko
INTRODUCTION: Myocardium heavily depends on the oxidative generation of energy that requires involvement of functional mitochondria. These organelles were recently shown to participate also in the mechanisms of cardioprotection induced by ischemic preconditioning. Based on the previous findings of increased myocardial resistance to ischemia, it could be assumed that mitochondria and functional alterations in the respiratory chain might also be involved in the mechanisms of remote ischemic preconditioning (RIP)...
July 15, 2014: Cardiovascular Research
Evagelia C Laiakis, Tytus D Mak, Sebastien Anizan, Sally A Amundson, Christopher A Barker, Suzanne L Wolden, David J Brenner, Albert J Fornace
The emergence of the threat of radiological terrorism and other radiological incidents has led to the need for development of fast, accurate and noninvasive methods for detection of radiation exposure. The purpose of this study was to extend radiation metabolomic biomarker discovery to humans, as previous studies have focused on mice. Urine was collected from patients undergoing total body irradiation at Memorial Sloan-Kettering Cancer Center prior to hematopoietic stem cell transplantation at 4-6 h postirradiation (a single dose of 1...
April 2014: Radiation Research
Manuel Mai, Anke Tönjes, Peter Kovacs, Michael Stumvoll, Georg Martin Fiedler, Alexander Benedikt Leichtle
OBJECTIVE: The role of mitochondrial function in the complex pathogenesis of type 2 diabetes is not yet completely understood. Therefore, the aim of this study was to investigate serum concentrations of short-, medium- and long-chain acylcarnitines as markers of mitochondrial function in volunteers with normal, impaired or diabetic glucose control. METHODS: Based on a 75 g oral glucose tolerance test, 1019 studied subjects were divided into a group with normal glucose tolerance (NGT; n = 636), isolated impaired fasting glycaemia (IFG; n = 184), impaired glucose tolerance (IGT; n = 87) or type 2 diabetes (T2D; n = 112)...
2013: PloS One
Réjane Morand, Massimiliano Donzelli, Manuel Haschke, Stephan Krähenbühl
Carnitine is an amino acid derivative that plays a key role in energy metabolism. Endogenous carnitine is found in its free form or esterified with acyl groups of several chain lengths. Quantification of carnitine and acylcarnitines is of particular interest for screening for research and metabolic disorders. We developed a method with online solid-phase extraction coupled to high-performance liquid chromatography and tandem mass spectrometry to quantify carnitine and three acylcarnitines with different polarity (acetylcarnitine, octanoylcarnitine, and palmitoylcarnitine)...
November 2013: Analytical and Bioanalytical Chemistry
Attilio Naccarato, Sacha Moretti, Giovanni Sindona, Antonio Tagarelli
A new analytical approach, using paper spray tandem mass spectrometry, has been developed for assay of carnitine and acylcarnitines in urine. Paper spray (PS) is a very promising technique, especially in clinical investigations, because of its simplicity, low cost, and rapid sample preparation. A home-made paper spray device was used for assay of urinary acylcarnitines (C2-C18). The performance of solvents with different elution efficiency and paper substrates with different porosity grade and structure were tested by use of spiked synthetic urine...
October 2013: Analytical and Bioanalytical Chemistry
Bodil Bjørndal, Trond Brattelid, Elin Strand, Natalya Filipchuk Vigerust, Gard Frodahl Tveitevåg Svingen, Asbjørn Svardal, Ottar Nygård, Rolf Kristian Berge
Peroxisome proliferator-activated receptors (PPARs) are important in the regulation of lipid and glucose metabolism. Recent studies have shown that PPARα-activation by WY 14,643 regulates the metabolism of amino acids. We investigated the effect of PPAR activation on plasma amino acid levels using two PPARα activators with different ligand binding properties, tetradecylthioacetic acid (TTA) and fish oil, where the pan-PPAR agonist TTA is a more potent ligand than omega-3 polyunsaturated fatty acids. In addition, plasma L-carnitine esters were investigated to reflect cellular fatty acid catabolism...
2013: PloS One
Jamie A Meadows, Matthew J Wargo
To survive in various environments, from host tissue to soil, opportunistic bacterial pathogens must be metabolically flexible and able to use a variety of nutrient sources. We are interested in Pseudomonas aeruginosa's catabolism of quaternary amine compounds that are prevalent in association with eukaryotes. Carnitine and acylcarnitines are abundant in animal tissues, particularly skeletal muscle, and are used to shuttle fatty acids in and out of the mitochondria, where they undergo β-oxidation. We previously identified the genes required for carnitine catabolism as the first four genes in the carnitine operon (caiX-cdhCAB; PA5388 to PA5385)...
June 2013: Applied and Environmental Microbiology
M L Couce, D E Castiñeiras, J D Moure, J A Cocho, P Sánchez-Pintos, J García-Villoria, D Quelhas, N Gregersen, B S Andresen, A Ribes, J M Fraga
Neonatal screening of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is of major importance due to the significant morbidity and mortality in undiagnosed patients. MCADD screening has been performed routinely in Galicia since July 2000, and until now 199,943 newborns have been screened. We identified 11 cases of MCADD, which gives an incidence of 1/18,134. During this period, no false negative screens have been detected. At diagnosis, all identified newborns were asymptomatic. Our data showed that octanoylcarnitine (C8) and C8/C10 ratio are the best markers for screening of MCADD...
2011: JIMD Reports
Jing Xu, Yanhua Chen, Ruiping Zhang, Yongmei Song, Jianzhong Cao, Nan Bi, Jingbo Wang, Jiuming He, Jinfa Bai, Lijia Dong, Luhua Wang, Qimin Zhan, Zeper Abliz
Diagnostic and therapeutic biomarkers useful for esophageal squamous cell carcinoma (ESCC) have the ability to increase the long term survival of cancer patients. A metabolomics study, using plasma from four groups including ESCC patients before, during, and after chemoradiotherapy (CRT) and healthy controls, was originally carried out by LC-MS to determine global alterations in the metabolic profiles and find biomarkers potentially applicable to diagnosis and monitoring treatment effects. It is worth pointing out that a clear clustering and separation of metabolic data from the four groups was observed, which indicated that disease status and treatment intervention resulted in specific metabolic perturbations in the patients...
May 2013: Molecular & Cellular Proteomics: MCP
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"