| Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases. | |
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MedLine Citation:
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PMID: 20637281 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: In order to identify biomarkers useful for the diagnosis of genetic white matter disorders we compared the metabolic profile of patients with leukodystrophies with a hypomyelinating or a non-hypomyelinating MRI pattern. METHODS: We used a non-a priori method of in vitro ¹H-NMR spectroscopy on CSF samples of 74 patients with leukodystrophies. RESULTS: We found an elevation of CSF N-acetylaspartylglutamate (NAAG) in patients with Pelizaeus-Merzbacher disease (PMD)-PLP1 gene, Pelizaeus-Merzbacher-like disease-GJC2 gene and Canavan disease-ASPA gene. In the PMD group, NAAG was significantly elevated in the CSF of all patients with PLP1 duplication (19/19) but was strictly normal in 6 out of 7 patients with PLP1 point mutations. Additionally, we previously reported increased CSF NAAG in patients with SLC17A5 mutations. CONCLUSIONS: Elevated CSF NAAG is a biomarker that suggests specific molecular diagnostic abnormalities in patients with white matter diseases. Our findings also point to unique pathological functions of the overexpressed PLP in PMD patients with duplication of this gene. |
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Authors:
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Fanny Mochel; Nadège Boildieu; Julie Barritault; Catherine Sarret; Eleonore Eymard-Pierre; François Seguin; Raphael Schiffmann; Odile Boespflug-Tanguy |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-07-13 |
Journal Detail:
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Title: Biochimica et biophysica acta Volume: 1802 ISSN: 0006-3002 ISO Abbreviation: Biochim. Biophys. Acta Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-09-20 Completed Date: 2010-12-10 Revised Date: 2011-11-01 |
Medline Journal Info:
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Nlm Unique ID: 0217513 Medline TA: Biochim Biophys Acta Country: Netherlands |
Other Details:
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Languages: eng Pagination: 1112-7 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier B.V. All rights reserved. |
Affiliation:
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APHP, Department of Genetics, Hôpital de La Salpêtrière, Paris, France. fanny.mochel@upmc.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Biological Markers / cerebrospinal fluid* Canavan Disease / cerebrospinal fluid*, diagnosis, genetics Child Child, Preschool Dipeptides / cerebrospinal fluid*, chemistry Female Gene Duplication Humans Magnetic Resonance Spectroscopy / methods Male Molecular Structure Myelin Proteolipid Protein / genetics Organic Anion Transporters / genetics Pelizaeus-Merzbacher Disease / cerebrospinal fluid*, diagnosis, genetics Point Mutation Sensitivity and Specificity Symporters / genetics |
| Chemical | |
Reg. No./Substance:
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0/Biological Markers; 0/Dipeptides; 0/Myelin Proteolipid Protein; 0/Organic Anion Transporters; 0/PLP1 protein, human; 0/Symporters; 0/sialic acid transport proteins; 3106-85-2/N-acetyl-1-aspartylglutamic acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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