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Glycogen storage

Haiqing Yi, Fengqin Gao, Stephanie Austin, Priya S Kishnani, Baodong Sun
Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.
December 2016: Molecular Genetics and Metabolism Reports
T Mahévas, D Gobert, M Gatfossé, A Mekinian, O Fain
INTRODUCTION: Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. CASE REPORT: An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes, and elevated transaminases and cholestasis. Hepatic ultrasonography and abdominal computed tomographic scan confirmed the hepatomegaly. The liver biopsy showed a massive glycogenosis and the diagnosis of hepatic glycogenosis was confirmed...
October 13, 2016: La Revue de Médecine Interne
Terry D Hinds, Katherine A Burns, Peter A Hosick, Lucien McBeth, Andrea Nestor-Kalinoski, Heather A Drummond, Adbulhadi A AlAmodi, Michael W Hankins, John P Vanden Heuvel, David E Stec
Non-alcoholic fatty liver disease (NAFLD) is the most rapidly growing form of liver disease, and if left untreated can result in non-alcoholic steatohepatitis (NASH) ultimately resulting in liver cirrhosis and failure. Biliverdin reductase-A (BVRA) is a multi-functioning protein primarily responsible for the reduction of biliverdin to bilirubin. Also, BVRA can function as a kinase and transcription factor, regulating several cellular functions. We report here that liver BVRA protects against hepatic steatosis by inhibiting glycogen synthase kinase-3β (GSK3β) by enhancing serine 9 phosphorylation, which inhibits its activity...
October 10, 2016: Journal of Biological Chemistry
Beatriz B Lustosa, Bertha Polegato, Marcos Minicucci, Bruna Rafacho, Priscila P Santos, Ana Angélica Fernandes, Katashi Okoshi, Diego Batista, Pamela Modesto, Andrea Gonçalves, Elenize J Pereira, Vanessa Pires, Sergio Paiva, Leonardo Zornoff, Paula S Azevedo
BACKGROUND: Considering the high morbidity and mortality after myocardial infarction (MI), the study of compounds with potential benefits for cardiac remodeling is reasonable. Green tea (GT) (Cammellia sinensis) is the most consumed beverage in the world. The potential action mechanisms of GT include anti-inflammatory, anti-apoptotic, antioxidant, and lipid-lowering properties. OBJECTIVE: This study analyzed the effects of GT on cardiac remodeling following coronary occlusion in rats...
October 2, 2016: International Journal of Cardiology
Carola Hedberg-Oldfors, Emma Glamuzina, Peter Ruygrok, Lisa J Anderson, Perry Elliott, Oliver Watkinson, Chris Occleshaw, Malcolm Abernathy, Clinton Turner, Nicola Kingston, Elaine Murphy, Anders Oldfors
We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. The mutated glycogenin-1 protein was expressed in cardiac tissue but had lost its ability to autoglucosylate as demonstrated by an in vitro assay and western blot analysis. It was therefore unable to form the primer for normal glycogen synthesis...
October 7, 2016: Journal of Inherited Metabolic Disease
Viktoriia Starokozhko, Suresh Vatakuti, Bauke H Schievink, Marjolijn T Merema, Annika Asplund, Jane Synnergren, Anders Aspegren, Geny M M Groothuis
Human precision-cut liver slices (hPCLS) are a valuable ex vivo model that can be used in acute toxicity studies. However, a rapid decline in metabolic enzyme activity limits their use in studies that require a prolonged xenobiotic exposure. The aim of the study was to extend the viability and function of hPCLS to 5 days of incubation. hPCLS were incubated in two media developed for long-term culture of hepatocytes, RegeneMed(®), and Cellartis(®), and in the standard medium WME. Maintenance of phase I and II metabolism was studied both on gene expression as well as functional level using a mixture of CYP isoform-specific substrates...
October 7, 2016: Archives of Toxicology
Mireia Díaz-Lobo, Alda Lisa Concia, Livia Gómez, Pere Clapés, Ignacio Fita, Joan J Guinovart, Joan C Ferrer
Glycogen synthase (GS) and glycogen phosphorylase (GP) are the key enzymes that control, respectively, the synthesis and degradation of glycogen, a multi-branched glucose polymer that serves as a form of energy storage in bacteria, fungi and animals. An abnormal glycogen metabolism is associated with several human diseases. Thus, GS and GP constitute adequate pharmacological targets to modulate cellular glycogen levels by means of their selective inhibition. The compound 1,4-dideoxy-1,4-imino-d-arabinitol (DAB) is a known potent inhibitor of GP...
September 26, 2016: Organic & Biomolecular Chemistry
R H Wang, R R Liang, H Lin, L X Zhu, Y M Zhang, Y W Mao, P C Dong, L B Niu, M H Zhang, X Luo
This study investigated the effects of acute heat stress and slaughter processing on poultry meat quality and carbohydrate metabolism. Broilers (200) were randomly divided into 2 groups receiving heat stress (HS; 36°C for one h), compared to a non-stressed control (C). At slaughter, each group was further divided into 2 groups for slaughter processing (L = laboratory; F = commercial factory). L group breasts were removed immediately after bleeding without carcass scalding or defeathering, and stored at 4°C...
October 4, 2016: Poultry Science
Rosalinda Knight, Vicki L Marlatt, Josh A Baker, Bonnie P Lo, Adrian M H deBruyn, James R Elphick, Christopher J Martyniuk
Dietary Se has been shown to adversely affect adult fish by altering growth rates and metabolism. To determine the underlying mechanisms associated with these observations, we measured biochemical and transcriptomic endpoints in rainbow trout following dietary Se exposures. Treatment groups of juvenile rainbow trout were fed either control Lumbriculus variegatus worms or worms cultured on selenized yeast. Selenized yeast was cultured at four nominal doses of 5, 10, 20 or 40mg/kg Se dry weight (measured dose in the worms of 7...
September 22, 2016: Aquatic Toxicology
Christopher T Turner, Maria Fuller, John J Hopwood, Peter J Meikle, Doug A Brooks
Pompe disease is caused by a deficiency in the lysosomal enzyme α-glucosidase, and this leads to glycogen accumulation in the autolysosomes of patient cells. Glycogen storage material is exocytosed at a basal rate in cultured Pompe cells, with one study showing up to 80% is released under specific culture conditions. Critically, exocytosis induction may reduce glycogen storage in Pompe patients, providing the basis for a therapeutic strategy whereby stored glycogen is redirected to an extracellular location and subsequently degraded by circulating amylases...
October 28, 2016: Biochemical and Biophysical Research Communications
Stephanie L Austin, Andrew Chiou, Baodong Sun, Laura E Case, Kenny Govendrageloo, Perrin Hansen, Priya S Kishnani
OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed with Pompe disease and treated with alglucosidase-alfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutation in the GAA gene...
September 28, 2016: Molecular Genetics and Metabolism
Farzaneh Khademi, Jafar Ai, Masoud Soleimani, Javad Verdi, Seyed Mohammad Tavangar, Esmaeil Sadroddiny, Mohammad Massumi, Seyed Mahmoud Hashemi
Liver tissue engineering (TE) is rapidly emerging as an effective technique which combines engineering and biological processes to compensate for the shortage of damaged or destroyed liver tissues. We examined the viability, differentiation, and integration of hepatocyte-like cells on an electrospun polyethersulfone (PES) scaffold, derived from human endometrial stem cells (hEnSCs). Natural polymers were separately grafted on plasma-treated PES nanofibers, that is, collagen, heparan sulfate (HS) and collagen-HS...
September 30, 2016: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
E C McKenzie, L V Eyrich, M E Payton, S J Valberg
A previous report suggests a substantial incidence of exertional rhabdomyolysis (ER) in Arabian horses performing endurance racing. This study compared formalin histopathology and clinical and metabolic responses to a standardised field exercise test (SET) between Arabians with and without ER. Arabian horses with (n = 10; age 15.4 ± 5.6 years) and without (n = 9; 12.9 ± 6.1 years) prior ER were stall-rested for 24-48 h, after which paired ER and control horses were fitted with a telemetric ECG and performed a 47 min submaximal SET...
October 2016: Veterinary Journal
Zhen Qin, Jing-Jing Wan, Yang Sun, Peng-Yuan Wang, Ding-Feng Su, Hong Lei, Xia Liu
We found previously that acute phase protein orosomucoid reacts to fatigue and activates C-C chemokine receptor type 5 to increase muscle glycogen storage and enhance muscle endurance (Lei et al., 2016). To explore the underlying molecular mechanisms, we investigated the role of AMP-activated protein kinase, a critical fuel sensor in skeletal muscle, in C-C chemokine receptor type 5-mediated orosomucoid action. It was found orosomucoid increased skeletal muscle AMP-activated protein kinase activation in a time- and dose- dependent manner, which was largely prevented by pharmacological blocking or knockout of C-C chemokine receptor type 5...
2016: Frontiers in Pharmacology
Eva-Maria Kuech, Graham Brogden, Hassan Y Naim
Lysosomal storage disorders are a heterogeneous group of more than 50 distinct inborn metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result from mutations followed by functional deficiencies of enzymes or transporters within the acidic environment of the lysosome, which mediate the degradation of a wide subset of substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen, oligosaccharides, peptides and glycoproteins, or the export of the respective degradation products from the lysosomes...
September 21, 2016: Biochimie
Laure Gallay, Philippe Petiot, Isabelle Durieu, Nathalie Streichenberger, Frederic Berard
Pompe disease is an inherited lysosomal disease in which there is a decrease or absence of acid alpha-glucosidase activity. This enzyme defect induces glycogen storage in different tissues, especially muscle and heart, resulting in muscle weakness, respiratory failure and heart disease. Substitutive enzyme replacement therapy (ERT) dispensed every two weeks is the only treatment that has shown benefits. However, this treatment induces hypersensitivity for half of the treated patients. Reactions range from mild to severe, sometimes requiring ERT suspension and anti-anaphylaxis drug administration...
July 19, 2016: Neuromuscular Disorders: NMD
Ching-Wen Chang, Kanishk Abhinav, Francesca Di Cara, Ioanna Panagakou, Sharron Vass, Margarete M S Heck
Invadolysin is a novel metalloprotease conserved amongst metazoans that is essential for life in Drosophila. We previously showed that invadolysin was essential for the cell cycle and cell migration, linking to metabolism through a role in lipid storage and interaction with mitochondrial proteins. In this study we demonstrate that invadolysin mutants exhibit increased autophagy and decreased glycogen storage - suggestive of a role for invadolysin in insulin signaling in Drosophila. Consistent with this, effectors of insulin signaling were decreased in invadolysin mutants...
September 13, 2016: Biological Chemistry
Shilpa Jain, Hemal Dholakia, Winston Kirtley, Peter Oelkers
Mechanisms that may regulate the storage of energy as triacylglycerol in Saccharomyces cerevisiae were examined. First, the kinetics of Dga1p, which mediates the majority of diacylglycerol esterification, the lone committed step in triacylglycerol synthesis, was measured in vitro. With an apparent K m of 17.0 μM, Dga1p has higher affinity for oleoyl-CoA than the only S. cerevisiae acyltransferase previously kinetically characterized, Lpt1p. Lpt1p is a 1-acylglycerol-3-phosphate O-acyltransferase that produces phosphatidate, a precursor to diacylglycerol...
December 2016: Current Microbiology
Giuseppe Pettinato, Rajesh Ramanathan, Robert A Fisher, Martin J Mangino, Ning Zhang, Xuejun Wen
Treatment of acute liver failure by cell transplantation is hindered by a shortage of human hepatocytes. Current protocols for hepatic differentiation of human induced pluripotent stem cells (hiPSCs) result in low yields, cellular heterogeneity, and limited scalability. In the present study, we have developed a novel multicellular spheroid-based hepatic differentiation protocol starting from embryoid bodies of hiPSCs (hiPSC-EBs) for robust mass production of human hepatocyte-like cells (HLCs) using two novel inhibitors of the Wnt pathway...
2016: Scientific Reports
Benjamin Koo, Bjorn Oskarsson
Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we report a novel disease-causing variant. A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis...
October 2016: Neuromuscular Disorders: NMD
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