Abstract
Glycolysis is one of the principle pathways of ATP generation in cells and is present in all cell tissues; in erythrocytes, glycolysis is the only pathway for ATP synthesis since mature red cells lack the internal structures necessary to produce the energy vital for life. Red cell deficiencies have been detected in all erythrocyte glycolytic pathways, although their frequencies differ owing to diverse causes, such as the affected enzyme and severity of clinical manifestations. The number of enzyme deficiencies known is endless. The most frequent glycolysis abnormality is pyruvate kinase deficiency, since around 500 cases are known, the first of which was reported in 1961. However, only approximately 200 cases were due to mutations. In contrast, only one case of phosphoglycerate mutase BB type mutation, described in 2003, has been detected. Most mutations are located in the coding sequences of genes, while others, missense, deletions, insertions, splice defects, premature stop codons and promoter mutations, are also frequent. Understanding of the crystal structure of enzymes permits molecular modelling studies which, in turn, reveal how mutations can affect enzyme structure and function.
Keywords: Glycolytic enzymes, mutations, red cells, structure
Cardiovascular & Hematological Disorders-Drug Targets
Title: Red Cell Glycolytic Enzyme Disorders Caused by Mutations: An Update
Volume: 9 Issue: 2
Author(s): Fernando Climent, Feliu Roset, Ada Repiso and Pablo Perez de la Ossa
Affiliation:
Keywords: Glycolytic enzymes, mutations, red cells, structure
Abstract: Glycolysis is one of the principle pathways of ATP generation in cells and is present in all cell tissues; in erythrocytes, glycolysis is the only pathway for ATP synthesis since mature red cells lack the internal structures necessary to produce the energy vital for life. Red cell deficiencies have been detected in all erythrocyte glycolytic pathways, although their frequencies differ owing to diverse causes, such as the affected enzyme and severity of clinical manifestations. The number of enzyme deficiencies known is endless. The most frequent glycolysis abnormality is pyruvate kinase deficiency, since around 500 cases are known, the first of which was reported in 1961. However, only approximately 200 cases were due to mutations. In contrast, only one case of phosphoglycerate mutase BB type mutation, described in 2003, has been detected. Most mutations are located in the coding sequences of genes, while others, missense, deletions, insertions, splice defects, premature stop codons and promoter mutations, are also frequent. Understanding of the crystal structure of enzymes permits molecular modelling studies which, in turn, reveal how mutations can affect enzyme structure and function.
Export Options
About this article
Cite this article as:
Climent Fernando, Roset Feliu, Repiso Ada and de la Ossa Perez Pablo, Red Cell Glycolytic Enzyme Disorders Caused by Mutations: An Update, Cardiovascular & Hematological Disorders-Drug Targets 2009; 9 (2) . https://dx.doi.org/10.2174/187152909788488636
DOI https://dx.doi.org/10.2174/187152909788488636 |
Print ISSN 1871-529X |
Publisher Name Bentham Science Publisher |
Online ISSN 2212-4063 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Oxidative and Inflammatory Events in Prion Diseases: Can They Be Therapeutic Targets?
Current Aging Science Changes in Market Share of Biologic and Targeted Synthetic Disease-Modifying Anti-Rheumatic Drugs for Treatment of Rheumatoid Arthritis: Results from the Ontario Best-Practice Research Initiative Database
Current Rheumatology Reviews Editorial (Heart Failure: The Need for Global Health Perspective)
Current Cardiology Reviews Melatonin Causes Gene Expression in Aged Animals to Respond to Inflammatory Stimuli in a Manner Differing from that of Young Animals
Current Aging Science Myocardial Structure and Matrix Metalloproteinases
Current Topics in Medicinal Chemistry Mitochondrial Complex I Deficiency in Humans
Current Genomics Outline of Proteins and Signaling Pathways Involved in Heart Failure
Current Protein & Peptide Science Matricellular Proteins in Myocardial Infarction
Current Cardiology Reviews Does More MnSOD Mean More Hydrogen Peroxide?
Anti-Cancer Agents in Medicinal Chemistry Cardiovascular Proteomics
Current Proteomics Meet Our Associate Editor
Current Cardiology Reviews Protective Effect of Dietary Potassium against Cardiovascular Damage in Salt-Sensitive Hypertension: Possible Role of its Antioxidant Action
Current Vascular Pharmacology Traditional and Alternative Therapies for Refractory Angina
Current Pharmaceutical Design Refining the Indications of Implantable Cardioverter Defibrillator in Patients with Left Ventricular Dysfunction
Reviews on Recent Clinical Trials Cardioprotection by Targeting the Pool of Resident and Extracardiac Progenitors
Current Drug Targets Cardiovascular Molecular Imaging: New Methodological Strategies
Current Pharmaceutical Design The Critical Role of Insulin-Like Growth Factor-1 Isoforms in the Physiopathology of Skeletal Muscle
Current Genomics Melatonin-mitochondria Interplay in Health and Disease
Current Topics in Medicinal Chemistry Potential Relevance of Melatonin Against Some Infectious Agents: A Review and Assessment of Recent Research
Current Medicinal Chemistry Therapeutic Potential of Neuregulin in Cardiovascular System: Can we Ignore the Effects of Neuregulin on Electrophysiology?
Mini-Reviews in Medicinal Chemistry