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Published on: June 27, 2017
Circulating microRNAs in Fabry Disease
Ke Xiao1, Dongchao Lu1, Jeannine Hoepfner1
1Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, Hannover, Germany.
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.
Insights
This study identified circulating microRNAs (miRNAs) in Fabry disease patients. Enzyme replacement therapy (ERT) altered levels of specific miRNAs, suggesting their potential as biomarkers for ERT efficacy.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Fabry disease (FD) is an X-linked genetic disorder caused by alpha-galactosidase A deficiency.
- Accumulation of globotriaosylceramide leads to multi-organ complications and reduced quality of life.
- Enzyme replacement therapy (ERT) is a treatment option for FD.
Purpose of the Study:
- To quantify circulating microRNAs (miRNAs) in Fabry disease patients.
- To investigate the impact of enzyme replacement therapy (ERT) on circulating miRNA levels.
- To identify potential miRNA biomarkers for ERT efficacy and patient stratification.
Main Methods:
- miRNA sequencing using the HTG EdgeSeq System to identify circulating miRNAs.
- Quantitative real-time PCR (qPCR) to validate differential expression of selected miRNAs.
- Analysis of serum samples from Fabry disease patients with and without ERT.
Main Results:
- A total of 296 circulating miRNAs were identified in Fabry disease patients.
- Six out of nine evaluated miRNAs showed significant differential expression.
- A distinct miRNA pattern was observed in patients undergoing ERT.
Conclusions:
- Circulating miRNAs may play a role in the pathophysiology of Fabry disease.
- Specific miRNA profiles could serve as biomarkers to assess ERT effectiveness.
- These miRNA markers may aid in identifying Fabry patients who would benefit most from ERT.
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