C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

Abstract Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swolle...

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Autores principales:	Claudia Cozma, Marius-Ionuț Iurașcu, Sabrina Eichler, Marina Hovakimyan, Oliver Brandau, Susanne Zielke, Tobias Böttcher, Anne-Katrin Giese, Jan Lukas, Arndt Rolfs
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a267cbff6a5140b1bcde5f0b575397b9
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spelling	oai:doaj.org-article:a267cbff6a5140b1bcde5f0b575397b92021-12-02T15:04:53ZC26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease10.1038/s41598-017-06604-22045-2322https://doaj.org/article/a267cbff6a5140b1bcde5f0b575397b92017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06604-2https://doaj.org/toc/2045-2322Abstract Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the patients not surviving past their first year of life. The diagnostic aspects of FD are poorly developed due to the rarity of the disease. In the present study, the screening for ceramides and related molecules was performed in Farber affected patients (n = 10), carriers (n = 11) and control individuals (n = 192). This study has the highest number of enrolled Farber patients and carriers reported to present. Liquid chromatography multiple reaction mass spectrometry (LC/MRM-MS) studies revealed that the ceramide C26:0 and especially its isoform 1 is a highly sensitive and specific biomarker for FD (p < 0.0001). The new biomarker can be determined directly in the dried blood spot extracts with low sample consumption. This allows for easy sample preparation, high reproducibility and use in high throughput screenings.Claudia CozmaMarius-Ionuț IurașcuSabrina EichlerMarina HovakimyanOliver BrandauSusanne ZielkeTobias BöttcherAnne-Katrin GieseJan LukasArndt RolfsNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Claudia Cozma Marius-Ionuț Iurașcu Sabrina Eichler Marina Hovakimyan Oliver Brandau Susanne Zielke Tobias Böttcher Anne-Katrin Giese Jan Lukas Arndt Rolfs C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
description	Abstract Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the patients not surviving past their first year of life. The diagnostic aspects of FD are poorly developed due to the rarity of the disease. In the present study, the screening for ceramides and related molecules was performed in Farber affected patients (n = 10), carriers (n = 11) and control individuals (n = 192). This study has the highest number of enrolled Farber patients and carriers reported to present. Liquid chromatography multiple reaction mass spectrometry (LC/MRM-MS) studies revealed that the ceramide C26:0 and especially its isoform 1 is a highly sensitive and specific biomarker for FD (p < 0.0001). The new biomarker can be determined directly in the dried blood spot extracts with low sample consumption. This allows for easy sample preparation, high reproducibility and use in high throughput screenings.
format	article
author	Claudia Cozma Marius-Ionuț Iurașcu Sabrina Eichler Marina Hovakimyan Oliver Brandau Susanne Zielke Tobias Böttcher Anne-Katrin Giese Jan Lukas Arndt Rolfs
author_facet	Claudia Cozma Marius-Ionuț Iurașcu Sabrina Eichler Marina Hovakimyan Oliver Brandau Susanne Zielke Tobias Böttcher Anne-Katrin Giese Jan Lukas Arndt Rolfs
author_sort	Claudia Cozma
title	C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
title_short	C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
title_full	C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
title_fullStr	C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
title_full_unstemmed	C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
title_sort	c26-ceramide as highly sensitive biomarker for the diagnosis of farber disease
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/a267cbff6a5140b1bcde5f0b575397b9
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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

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