Abstract
Nuclear magnetic resonance spectroscopy has been exploited to study the metabolic characteristics (phenotype) of genetic disorders by taking advantage of some unique characteristics of the technique. The first application, metabolic profiling for diagnosis and therapeutic monitoring in vitro, demonstrates the exceptional diversity of metabolites detected by NMR, and has resulted in new interest in significant metabolites largely ignored previously because other techniques do not detect them, e.g. betaine and creatine. Moreover, previously ‘unknown’ genetic disorders have been detected and characterised The same NMR technique can be effectively exploited for metabolic profiling of mutation models in yeast and mice, leading to a prominent role in the development of large scale metabolomic profiling to link genomic information with phenotype. The second application, magnetic resonance spectroscopy (MRS), exploits the unique possibility of studying human metabolism in vivo, which permits intracellular rather than extracellular metabolic profiling. When it is possible to detect the precise diagnostic metabolites in vivo, investigators have been able to link clinical status with cellular biochemistry, sometimes questioning the clinical value of extracellular (plasma) metabolite measurements. Thus, claims have been made that brain phenylalanine concentrations match more closely the clinical status of patients with phenylketonuria. These studies in vivo have also led to new diagnoses e.g. the disorders of creatine synthesis and transport, highlighting a new category of brain syndromes. Future applications of NMR are cautiously considered as they are critically dependent on continued improvement in resolution and sensitivity in turn generated by developments in magnet design and higher fields.
Keywords: Magnetic resonance spectroscopy, inherited disorders of metabolism, genetic disorders, metabolomics, mitochondrial myopathy, organic aciduria, choline, phenylketonuria
Current Medicinal Chemistry
Title: Nuclear Magnetic Resonance Spectroscopy and Genetic Disorders
Volume: 15 Issue: 1
Author(s): R. A. Iles
Affiliation:
Keywords: Magnetic resonance spectroscopy, inherited disorders of metabolism, genetic disorders, metabolomics, mitochondrial myopathy, organic aciduria, choline, phenylketonuria
Abstract: Nuclear magnetic resonance spectroscopy has been exploited to study the metabolic characteristics (phenotype) of genetic disorders by taking advantage of some unique characteristics of the technique. The first application, metabolic profiling for diagnosis and therapeutic monitoring in vitro, demonstrates the exceptional diversity of metabolites detected by NMR, and has resulted in new interest in significant metabolites largely ignored previously because other techniques do not detect them, e.g. betaine and creatine. Moreover, previously ‘unknown’ genetic disorders have been detected and characterised The same NMR technique can be effectively exploited for metabolic profiling of mutation models in yeast and mice, leading to a prominent role in the development of large scale metabolomic profiling to link genomic information with phenotype. The second application, magnetic resonance spectroscopy (MRS), exploits the unique possibility of studying human metabolism in vivo, which permits intracellular rather than extracellular metabolic profiling. When it is possible to detect the precise diagnostic metabolites in vivo, investigators have been able to link clinical status with cellular biochemistry, sometimes questioning the clinical value of extracellular (plasma) metabolite measurements. Thus, claims have been made that brain phenylalanine concentrations match more closely the clinical status of patients with phenylketonuria. These studies in vivo have also led to new diagnoses e.g. the disorders of creatine synthesis and transport, highlighting a new category of brain syndromes. Future applications of NMR are cautiously considered as they are critically dependent on continued improvement in resolution and sensitivity in turn generated by developments in magnet design and higher fields.
Export Options
About this article
Cite this article as:
Iles A. R., Nuclear Magnetic Resonance Spectroscopy and Genetic Disorders, Current Medicinal Chemistry 2008; 15 (1) . https://dx.doi.org/10.2174/092986708783330719
DOI https://dx.doi.org/10.2174/092986708783330719 |
Print ISSN 0929-8673 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-533X |
Call for Papers in Thematic Issues
Advances in Medicinal Chemistry: From Cancer to Chronic Diseases.
The broad spectrum of the issue will provide a comprehensive overview of emerging trends, novel therapeutic interventions, and translational insights that impact modern medicine. The primary focus will be diseases of global concern, including cancer, chronic pain, metabolic disorders, and autoimmune conditions, providing a broad overview of the advancements in ...read more
Approaches to the treatment of chronic inflammation
Chronic inflammation is a hallmark of numerous diseases, significantly impacting global health. Although chronic inflammation is a hot topic, not much has been written about approaches to its treatment. This thematic issue aims to showcase the latest advancements in chronic inflammation treatment and foster discussion on future directions in this ...read more
Cellular and Molecular Mechanisms of Non-Infectious Inflammatory Diseases: Focus on Clinical Implications
The Special Issue covers the results of the studies on cellular and molecular mechanisms of non-infectious inflammatory diseases, in particular, autoimmune rheumatic diseases, atherosclerotic cardiovascular disease and other age-related disorders such as type II diabetes, cancer, neurodegenerative disorders, etc. Review and research articles as well as methodology papers that summarize ...read more
Chalcogen-modified nucleic acid analogues
Chalcogen-modified nucleosides, nucleotides and oligonucleotides have been of great interest to scientific research for many years. The replacement of oxygen in the nucleobase, sugar or phosphate backbone by chalcogen atoms (sulfur, selenium, tellurium) gives these biomolecules unique properties resulting from their altered physical and chemical properties. The continuing interest in ...read more
- 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
-
Methadone and the Heart: What the Clinician Needs to Know
Current Drug Abuse Reviews A Hybrid Binary Cuckoo Search and Genetic Algorithm for Feature Selection in Type-2 Diabetes
Current Bioinformatics Neuroimmunomodulation and Aging: A Role for Transferrin and the Hypothalamus/Thymus Axis
Current Aging Science Oxidative Stress Correlates (OSC) in Diabetes Mellitus Patients
Current Diabetes Reviews Relationship Between Hypertension and Atherosclerosis: From a Viewpoint of the Most Potent Vasoconstrictor Human Urotensin II
Current Hypertension Reviews Appropriate Antibiotic Prescribing Pattern in Hospitalized Children
Current Drug Safety Barker and Brenner: A Basis for Hypertension?
Current Hypertension Reviews Cardiac Repair: The Intricate Crosstalk between the Epicardium and the Myocardium
Current Stem Cell Research & Therapy Physiology of Folic Acid in Health and Disease
Current Drug Metabolism Mediterranean Diet and Risk of Dementia
Current Alzheimer Research Postprandial Hypertriglyceridaemia Revisited in the Era of Non-Fasting Lipid Profile Testing: A 2019 Expert Panel Statement, Narrative Review
Current Vascular Pharmacology Gene Delivery Strategies Targeting Stable Atheromatous Plaque
Current Pharmaceutical Design Diabetic Heart and the Cardiovascular Surgeon
Cardiovascular & Hematological Disorders-Drug Targets Fatty Acids - Induced Lipotoxicity and Inflammation
Current Drug Metabolism Cigarette Smoking in Methadone Maintained Patients: An Up-to-Date Review
Current Drug Abuse Reviews Preoperative and Follow up Multi-Detector Row CT Angiography (MDCTA) in the Evaluation of Interrupted Aortic Arch (IAA)
Current Medical Imaging New Concept of Vascular Calcification and Metabolism
Current Vascular Pharmacology Ivabradine: The Hope for a Good Treatment of Ischemic Heart Disease
Current Medicinal Chemistry Biomarkers of Oxidative Stress and the Relationship to Cigarette Smoking
Mini-Reviews in Organic Chemistry Clinical Science of Calcium Channel Blocker to Inhibit Hypertensive Vascular Injury
Current Hypertension Reviews