NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

Abstract Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge. In view of these difficulties, the search for a novel, NPC1-specific biomarker (or set...

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Autores principales:	Fay Probert, Victor Ruiz-Rodado, Danielle te Vruchte, Elena-Raluca Nicoli, Tim D. W. Claridge, Christopher A. Wassif, Nicole Farhat, Forbes D. Porter, Frances M. Platt, Martin Grootveld
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/486e2509b932488d83bb2463ee51ff9c
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spelling	oai:doaj.org-article:486e2509b932488d83bb2463ee51ff9c2021-12-02T11:40:44ZNMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls10.1038/s41598-017-06264-22045-2322https://doaj.org/article/486e2509b932488d83bb2463ee51ff9c2017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06264-2https://doaj.org/toc/2045-2322Abstract Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge. In view of these difficulties, the search for a novel, NPC1-specific biomarker (or set of biomarkers) is a topic of much interest. Here we employed high-resolution 1H nuclear magnetic resonance spectroscopy coupled with advanced multivariate analysis techniques in order to explore and seek differences between blood plasma samples acquired from NPC1 (untreated and miglustat treated), heterozygote, and healthy control subjects. Using this approach, we were able to identify NPC1 disease with 91% accuracy confirming that there are significant differences in the NMR plasma metabolic profiles of NPC1 patients when compared to healthy controls. The discrimination between NPC1 (both miglustat treated and untreated) and healthy controls was dominated by lipoprotein triacylglycerol 1H NMR resonances and isoleucine. Heterozygote plasma samples displayed also increases in the intensities of selected lipoprotein triacylglycerol 1H NMR signals over those of healthy controls. The metabolites identified could represent useful biomarkers in the future and provide valuable insight in to the underlying pathology of NPC1 disease.Fay ProbertVictor Ruiz-RodadoDanielle te VruchteElena-Raluca NicoliTim D. W. ClaridgeChristopher A. WassifNicole FarhatForbes D. PorterFrances M. PlattMartin GrootveldNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Fay Probert Victor Ruiz-Rodado Danielle te Vruchte Elena-Raluca Nicoli Tim D. W. Claridge Christopher A. Wassif Nicole Farhat Forbes D. Porter Frances M. Platt Martin Grootveld NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
description	Abstract Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge. In view of these difficulties, the search for a novel, NPC1-specific biomarker (or set of biomarkers) is a topic of much interest. Here we employed high-resolution 1H nuclear magnetic resonance spectroscopy coupled with advanced multivariate analysis techniques in order to explore and seek differences between blood plasma samples acquired from NPC1 (untreated and miglustat treated), heterozygote, and healthy control subjects. Using this approach, we were able to identify NPC1 disease with 91% accuracy confirming that there are significant differences in the NMR plasma metabolic profiles of NPC1 patients when compared to healthy controls. The discrimination between NPC1 (both miglustat treated and untreated) and healthy controls was dominated by lipoprotein triacylglycerol 1H NMR resonances and isoleucine. Heterozygote plasma samples displayed also increases in the intensities of selected lipoprotein triacylglycerol 1H NMR signals over those of healthy controls. The metabolites identified could represent useful biomarkers in the future and provide valuable insight in to the underlying pathology of NPC1 disease.
format	article
author	Fay Probert Victor Ruiz-Rodado Danielle te Vruchte Elena-Raluca Nicoli Tim D. W. Claridge Christopher A. Wassif Nicole Farhat Forbes D. Porter Frances M. Platt Martin Grootveld
author_facet	Fay Probert Victor Ruiz-Rodado Danielle te Vruchte Elena-Raluca Nicoli Tim D. W. Claridge Christopher A. Wassif Nicole Farhat Forbes D. Porter Frances M. Platt Martin Grootveld
author_sort	Fay Probert
title	NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
title_short	NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
title_full	NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
title_fullStr	NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
title_full_unstemmed	NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
title_sort	nmr analysis reveals significant differences in the plasma metabolic profiles of niemann pick c1 patients, heterozygous carriers, and healthy controls
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/486e2509b932488d83bb2463ee51ff9c
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NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

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