| Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy. | |
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MedLine Citation:
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PMID: 20620060 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Debranching enzyme deficiency (Glycogen storage disease (GSD) type III) causes progressive muscle wasting myopathy. A comprehensive nuclear magnetic resonance study involving spectroscopy (NMRS) and imaging (NMRI) evaluated status and function of calf muscles in 18 GSDIII patients. At rest, (31)P NMRS showed elevated pH and accumulation of anomalous phosphomonoesters, (13)C NMRS quantified excess glycogen accumulation and NMRI demonstrated progressive fat replacement that paralleled muscle weakness. Multi-parametric functional NMR, performed at recovery from a single bout of aerobic exercise, simultaneously assessed oxidative phosphorylation from (31)P NMRS, muscle perfusion and BOLD, a marker of blood oxygenation, from arterial spin labeled NMRI, and oxygen uptake from deoxymyoglobin proton NMRS. While blocked glycogenolysis caused inadequate substrate supply to the mitochondria, combined measurements suggested that altered perfusion was also responsible for impaired post-exercise phosphocreatine recovery and could contribute to exercise intolerance in GSDIII. These non-invasive investigations provide new indices to quantify the progression of GSDIII. |
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Authors:
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Claire Wary; Aleksandra Nadaj-Pakleza; Pascal Laforêt; Kristl G Claeys; Robert Carlier; Aurélien Monnet; Servanne Fleury; Céline Baligand; Bruno Eymard; Philippe Labrune; Pierre G Carlier |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 20 ISSN: 1873-2364 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-03 Completed Date: 2010-11-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 548-58 Citation Subset: IM |
Copyright Information:
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2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Institute of Myology, Paris, France. c.wary@institut-myologie.org |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Child Electron Spin Resonance Spectroscopy Energy Metabolism / physiology Exercise / physiology Female Glycogen / metabolism Glycogen Storage Disease Type III / metabolism, pathology* Humans Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Male Middle Aged Mitochondria, Muscle / metabolism Muscle, Skeletal / blood supply, metabolism, pathology Myoglobin / metabolism Oxygen Consumption / physiology Phosphorus / metabolism Regional Blood Flow Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Myoglobin; 0/deoxymyoglobin; 7723-14-0/Phosphorus; 9005-79-2/Glycogen |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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