scholarly journals Hereditary Phosphofructokinase Deficiency in Wachtelhunds

2011 ◽  
Vol 47 (2) ◽  
pp. 145-150 ◽  
Author(s):  
Anna Hillström ◽  
Harold Tvedten ◽  
André Rowe ◽  
Urs Giger
Keyword(s):  
Missense Mutation ◽  
Hemolytic Anemia ◽  
Oxygen Affinity ◽  
Exercise Intolerance ◽  
Strenuous Exercise ◽  
Muscle Type ◽  
Mild Anemia ◽  
Mixed Breed ◽  
Hemoglobin Oxygen Affinity ◽  
Phosphofructokinase Deficiency

Hereditary phosphofructokinase (PFK) deficiency was diagnosed in two Wachtelhund dogs and suspected in three related Wachtelhund dogs with exercise intolerance, hemolytic anemia, and pigmenturia. Severe, persistent reticulocytosis in light of only mild anemia together with hemoglobinuria after strenuous exercise suggested PFK deficiency. Low erythrocyte PFK activity together with low 2,3-diphosphoglycerate concentrations and a high hemoglobin-oxygen affinity confirmed the diagnosis. The PFK deficiency is due to a single missense mutation in the muscle-type PFK M-PFK gene in English springer and American cocker spaniels, whippets, and mixed-breed dogs; however, these PFK-deficient Wachtelhunds do not have the same PFK mutation.

scholarly journals Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog

2012 ◽  
Vol 26 (6) ◽  
pp. 243-247 ◽  
Author(s):  
G. Inal Gultekin ◽  
K. Raj ◽  
S. Lehman ◽  
A. Hillström ◽  
U. Giger
Keyword(s):  
Missense Mutation ◽  
Muscle Type ◽  
Phosphofructokinase Deficiency

scholarly journals Molecular Pathways Involved in the Development of Congenital Erythrocytosis

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1150
Author(s):  
Jana Tomc ◽  
Nataša Debeljak
Keyword(s):  
Signal Transduction ◽  
Iron Homeostasis ◽  
Molecular Mechanisms ◽  
Oxygen Affinity ◽  
Molecular Pathways ◽  
Disease Development ◽  
Post Translational Modifications ◽  
Hemoglobin Oxygen Affinity ◽  
Insight Into ◽  
Idiopathic Erythrocytosis

Patients with idiopathic erythrocytosis are directed to targeted genetic testing including nine genes involved in oxygen sensing pathway in kidneys, erythropoietin signal transduction in pre-erythrocytes and hemoglobin-oxygen affinity regulation in mature erythrocytes. However, in more than 60% of cases the genetic cause remains undiagnosed, suggesting that other genes and mechanisms must be involved in the disease development. This review aims to explore additional molecular mechanisms in recognized erythrocytosis pathways and propose new pathways associated with this rare hematological disorder. For this purpose, a comprehensive review of the literature was performed and different in silico tools were used. We identified genes involved in several mechanisms and molecular pathways, including mRNA transcriptional regulation, post-translational modifications, membrane transport, regulation of signal transduction, glucose metabolism and iron homeostasis, which have the potential to influence the main erythrocytosis-associated pathways. We provide valuable theoretical information for deeper insight into possible mechanisms of disease development. This information can be also helpful to improve the current diagnostic solutions for patients with idiopathic erythrocytosis.

scholarly journals CD73 and AMPD3 deficiency enhance metabolic performance via erythrocyte ATP that decreases hemoglobin oxygen affinity

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
William G. O’Brien III ◽  
Vladimir Berka ◽  
Ah-Lim Tsai ◽  
Zhaoyang Zhao ◽  
Cheng Chi Lee
Keyword(s):  
Oxygen Affinity ◽  
Hemoglobin Oxygen Affinity ◽  
Metabolic Performance

Features of ozone effect on oxygen-dependent processes in the blood under hypoxic conditions

2021 ◽  
Vol 20 (3) ◽  
pp. 70-76
Author(s):  
V. V. Zinchuk ◽  
E. S. Biletskaya
Keyword(s):  
Malonic Dialdehyde ◽  
Oxygen Affinity ◽  
Diene Conjugates ◽  
Physiological Factor ◽  
Sodium Hydrosulfide ◽  
Hypoxic Conditions ◽  
Hemoglobin Oxygen Affinity ◽  
Gaseous Transmitters ◽  
Dependent Processes

Introduction. Ozone is a physiological factor that can change hemoglobin oxygen affinity and the formation of gaseous transmitters (NO, H2S). The aim is to study the effect of ozone with gaseous transmitters donors on oxygen-dependent processes in the blood under hypoxic conditions in vitro. Materials and methods. Blood samples were divided into 6 groups of 3 ml each. Groups 2, 4, 5, 6 were pretreated with a deoxygenating gas mixture (5.5 % CO2; 94.5 % N2). In groups 3, 4, 5, 6, ozonized isotonic sodium chloride solution (with an ozone concentration of 6 mg/l) was added, and in groups 5 and 6, the donors of gas transmitters nitroglycerin and sodium hydrosulfide, respectively, were additionally introduced. Results. Pre-deoxygenation reduces the effect of ozone on oxygen transport in the blood. Nitroglycerin prevents this effect. The action of ozone under hypoxic conditions leads to an increase of content of NO3-/NO2- and H2S, and combination with nitroglycerin and sodium hydrosulfide increase these parameters. Deoxygenation due to ozone reduces parameters of lipid peroxidation (malonic dialdehyde, diene conjugates), retinol and α-tocopherol, and the same result in the nitroglycerin group. Conclusion. Under hypoxic conditions, a decrease in the effect of ozone on oxygen-dependent processes is reported. Nitroglycerin reduces its manifestation, while sodium hydrosulfide does not have a similar effect.

scholarly journals Impact of voxelotor (GBT440) on unconjugated bilirubin and jaundice in sickle cell disease

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Paul Telfer ◽  
Irene Agodoa ◽  
Kathleen M. Fox ◽  
Laurie Burke ◽  
Timothy Mant ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Oxygen Affinity ◽  
Well Being ◽  
Unconjugated Bilirubin ◽  
Cell Disease ◽  
Case Patient ◽  
Disease Manifestation ◽  
Patient Reported ◽  
Hemoglobin Oxygen Affinity

For many patients with sickle cell disease (SCD), jaundice is a significant clinical disease manifestation that impacts on patient well-being. We report a case of a patient with SCD and chronic jaundice treated with voxelotor (GBT440), a novel small molecule hemoglobin oxygen affinity modulator and potential disease-modifying therapy for SCD. The case patient is a 27- year-old Black male with a long history of SCD with clinical jaundice and scleral icterus. After starting voxelotor, the patient reported that his jaundice cleared within one week, and that he felt much better with more energy, and was relieved after his eyes cleared. Voxelotor reduced bilirubin and unconjugated bilirubin (by up to 76%), and hemoglobin improved from 9.9 g/dL at baseline to 11.1 g/dL at 90 days. Jaundice impacts many adults with SCD, significantly impacting self-image. Voxelotor treatment reduced bilirubin levels and improved jaundice, resulting in an improved sense of well-being in our case patient.

scholarly journals Analysis of the relationship between hemoglobin-oxygen affinity and lipid peroxidation during fever.

1995 ◽  
Vol 42 (1) ◽  
pp. 69-74 ◽  
Author(s):  
M V Borisiuk ◽  
V V Zinchuk
Keyword(s):  
Lipid Peroxidation ◽  
Malonic Dialdehyde ◽  
Oxygen Affinity ◽  
Alpha Tocopherol ◽  
Diene Conjugates ◽  
Tocopherol Concentration ◽  
Hemoglobin Oxygen Affinity ◽  
The Relationship ◽  
Free Radical Lipid Oxidation ◽  
Oxyhemoglobin Dissociation

Endogenous hyperthermia was induced in rabbits by i.v. pyrogenal administration. Hemoglobin-oxygen affinity and parameters of free radical lipid oxidation in plasma and red blood cells were measured. The content of diene conjugates, malonic dialdehyde and Schiff bases were determined at a pyrogenal dose of 4 minimal pyrogenic doses/kg, and iron-initiated chemiluminescence, catalase activity and alpha-tocopherol concentration were determined at 6 minimal pyrogenic doses/kg. A rightward shift of the real oxyhemoglobin dissociation curve and activation of lipid peroxidation were observed. Relationships between the parameters measured were analyzed. Decreased hemoglobin-oxygen affinity is considered to be a possible mechanism of activation of free radicals during fever.

scholarly journals The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy

Blood ◽  
1980 ◽  
Vol 55 (4) ◽  
pp. 629-635
Author(s):  
S Vora ◽  
L Corash ◽  
WK Engel ◽  
S Durham ◽  
C Seaman ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Direct Evidence ◽  
The Other ◽  
Heterogeneous Mixture ◽  
Muscle Type ◽  
Crossover Point ◽  
Normal Human ◽  
Phosphofructokinase Deficiency ◽  
2,3 Dpg ◽  
Chromatographic Profiles

Normal human erythrocyte phosphofructokinase (ATP:c D-fructose-6, P-1- phosphotransferase, EC 2.7.1.11; PFK) has recently been shown to consist of a heterogeneous mixture of five tetrameric isozymes: M4, M3L, M2L2, ML3, and L4 (M, muscle type; L, liver type). In the light of these findings, we have investigated the molecular basis of the inherited erythrocyte PFK deficiency associated with myopathy and hemolysis (Tarui disease). The propositus, a 31-yr-old male, suffered from muscle weakness and myoglobinuria on exertion. He showed mild erythrocytosis despite laboratory evidence of hemolysis. In his erythrocytes a metabolic crossover point was found at the level of PFK; 2,3-diphosphoglycerate (2,3-DPG) was also significantly reduced. The PFK from the patient's erythrocytes consisted exclusively of the L4 isozyme, and there was a complete absence of the other four. The leukocyte and platelet PFKs from the patient showed normal activities, chromatographic profiles, and precipitation with anti-M4 antibody. These studies provide direct evidence that in Tarui disease the M-type subunits are absent; but the liver- and platelet-type subunits of PFK are unaffected. The paradox of mild erythrocytosis despite hemolysis reflects the decreased production of 2,3-DPG.

scholarly journals First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene

2013 ◽  
Vol 4 ◽  
Author(s):  
Joan-Lluis Vives-Corrons ◽  
Pavla Koralkova ◽  
Josep M. Grau ◽  
Maria del Mar Mañú Pereira ◽  
Richard Van Wijk
Keyword(s):  
Missense Mutation ◽  
Homozygous Missense Mutation ◽  
Phosphofructokinase Deficiency

Hemoglobin-Oxygen Equilibrium in Cystic Fibrosis

PEDIATRICS ◽  
1977 ◽  
Vol 59 (6) ◽  
pp. 919-926
Author(s):  
Amnon Rosenthal ◽  
Kon Taik Khaw ◽  
Harry Shwachman
Keyword(s):  
Cystic Fibrosis ◽  
Tissue Oxygenation ◽  
Oxygen Affinity ◽  
Arterial Oxygen Tension ◽  
Pulmonary Involvement ◽  
Arterial Oxygen ◽  
Blood Ph ◽  
Hemoglobin Oxygen Affinity ◽  
Systemic Oxygen ◽  
2,3 Dpg

A study of 35 patients with cystic fibrosis demonstrated that increasing severity of pulmonary involvement was associated with a mild but definite increase in erythrocyte 2,3-diphosphoglycerate (2,3-DPG) and a decrease in hemoglobin affinity for oxygen. The predominant regulators of 2,3-DPG were blood pH, cardiac output, and systemic oxygen transport. No significant relationship was observed between erythrocyte 2,3-DPG content and arterial oxygen tension. Hypophosphatemia may have prevented a greater increase in erythrocyte 2,3-DPG content. The inadequate increase in 2,3-DPG and consequent insufficient change in hemoglobin-oxygen affinity, coupled with an insufficient compensatory erythrocytic response, may adversely affect tissue oxygenation in patients with severe cystic fibrosis.

Sign in / Sign up

Export Citation Format

Share Document