Circulating microRNAs in Fabry Disease

Abstract Fabry disease is an X-linked deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal). This results in an accumulation of globotriaosylceramide (GL-3/Gb3) in a variety of cells with subsequent functional impairment. The continuous progress of FD often leads to decreased quali...

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Autores principales:	Ke Xiao, Dongchao Lu, Jeannine Hoepfner, Laura Santer, Shashi Gupta, Angelika Pfanne, Sabrina Thum, Malte Lenders, Eva Brand, Peter Nordbeck, Thomas Thum
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/875154d0910d4335b4c8cf600b0c2de4
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spelling	oai:doaj.org-article:875154d0910d4335b4c8cf600b0c2de42021-12-02T15:09:15ZCirculating microRNAs in Fabry Disease10.1038/s41598-019-51805-62045-2322https://doaj.org/article/875154d0910d4335b4c8cf600b0c2de42019-10-01T00:00:00Zhttps://doi.org/10.1038/s41598-019-51805-6https://doaj.org/toc/2045-2322Abstract Fabry disease is an X-linked deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal). This results in an accumulation of globotriaosylceramide (GL-3/Gb3) in a variety of cells with subsequent functional impairment. The continuous progress of FD often leads to decreased quality of life and premature death caused by multi-organic complications. The overall aim of our study was to determine the amount of circulating miRNAs in Fabry patients and to test whether ERT would alter the level of individual circulating miRNAs. We used miRNA sequencing by the HTG EdgeSeq System to identify the circulating miRNA pool from Fabry patients with and without enzyme replacement therapy (n = 6). In total, 296 miRNAs in serum of patients were identified. Among them 9 miRNAs were further evaluated in extra serum samples (n = 31) using real-time qPCR and 6 of them showed significant differential expression. The resulting miRNA pattern may help to better understand mechanisms involved in the beneficial effects of ERT and these new miRNA markers could help to estimate the efficacy of ERT or to identify Fabry patients with specific need for ERT.Ke XiaoDongchao LuJeannine HoepfnerLaura SanterShashi GuptaAngelika PfanneSabrina ThumMalte LendersEva BrandPeter NordbeckThomas ThumNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Ke Xiao Dongchao Lu Jeannine Hoepfner Laura Santer Shashi Gupta Angelika Pfanne Sabrina Thum Malte Lenders Eva Brand Peter Nordbeck Thomas Thum Circulating microRNAs in Fabry Disease
description	Abstract Fabry disease is an X-linked deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal). This results in an accumulation of globotriaosylceramide (GL-3/Gb3) in a variety of cells with subsequent functional impairment. The continuous progress of FD often leads to decreased quality of life and premature death caused by multi-organic complications. The overall aim of our study was to determine the amount of circulating miRNAs in Fabry patients and to test whether ERT would alter the level of individual circulating miRNAs. We used miRNA sequencing by the HTG EdgeSeq System to identify the circulating miRNA pool from Fabry patients with and without enzyme replacement therapy (n = 6). In total, 296 miRNAs in serum of patients were identified. Among them 9 miRNAs were further evaluated in extra serum samples (n = 31) using real-time qPCR and 6 of them showed significant differential expression. The resulting miRNA pattern may help to better understand mechanisms involved in the beneficial effects of ERT and these new miRNA markers could help to estimate the efficacy of ERT or to identify Fabry patients with specific need for ERT.
format	article
author	Ke Xiao Dongchao Lu Jeannine Hoepfner Laura Santer Shashi Gupta Angelika Pfanne Sabrina Thum Malte Lenders Eva Brand Peter Nordbeck Thomas Thum
author_facet	Ke Xiao Dongchao Lu Jeannine Hoepfner Laura Santer Shashi Gupta Angelika Pfanne Sabrina Thum Malte Lenders Eva Brand Peter Nordbeck Thomas Thum
author_sort	Ke Xiao
title	Circulating microRNAs in Fabry Disease
title_short	Circulating microRNAs in Fabry Disease
title_full	Circulating microRNAs in Fabry Disease
title_fullStr	Circulating microRNAs in Fabry Disease
title_full_unstemmed	Circulating microRNAs in Fabry Disease
title_sort	circulating micrornas in fabry disease
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/875154d0910d4335b4c8cf600b0c2de4
work_keys_str_mv	AT kexiao circulatingmicrornasinfabrydisease AT dongchaolu circulatingmicrornasinfabrydisease AT jeanninehoepfner circulatingmicrornasinfabrydisease AT laurasanter circulatingmicrornasinfabrydisease AT shashigupta circulatingmicrornasinfabrydisease AT angelikapfanne circulatingmicrornasinfabrydisease AT sabrinathum circulatingmicrornasinfabrydisease AT maltelenders circulatingmicrornasinfabrydisease AT evabrand circulatingmicrornasinfabrydisease AT peternordbeck circulatingmicrornasinfabrydisease AT thomasthum circulatingmicrornasinfabrydisease
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Circulating microRNAs in Fabry Disease

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