Thorac Cardiovasc Surg 2017; 65(S 02): S111-S142
DOI: 10.1055/s-0037-1599038
DGPK Poster Presentations
Monday, February 13th, 2017
DGPK: e-Poster: Basic Science and Clinical Studies
Georg Thieme Verlag KG Stuttgart · New York

Characterization of microRNA Profile in the Blood of Patients with Marfan Syndrome

L. Motsch
1   Kinderkardiologie, Universitätsklinikum des Saarlandes, Homburg Saar, Germany
,
M. Abu-Halima
1   Kinderkardiologie, Universitätsklinikum des Saarlandes, Homburg Saar, Germany
,
E. Meese
2   Institute of Human Genetics, Universitätsklinikum des Saarlandes, Homburg Saar, Germany
,
A. Keller
3   Clinical Bioinformatics, Universität des Saarlandes, Saarbrücken, Germany
,
T. Rädle-Hurst
1   Kinderkardiologie, Universitätsklinikum des Saarlandes, Homburg Saar, Germany
,
H. Abdul-Khaliq
1   Kinderkardiologie, Universitätsklinikum des Saarlandes, Homburg Saar, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
02 February 2017 (online)

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Background: Marfan syndrome (MFS) is an autosomal dominant inheritance disorder with a 1/5,000 live-birth prevalence. It is characterized by a wide range of clinical manifestations with more than 3000 mutations identified in the FBN1 gene. In this study we aimed to determine whether specific patterns of circulating microRNAs (miRNAs) are associated with MFS, and whether the abundance of miRNA levels in individuals with MFS versus healthy volunteers (HVs) controls could be used as a biomarker for accurate diagnosis of MFS.

Methods and Results: Altered miRNA abundance level was found between MFS (n = 39) and HVs (n = 39). Using miRNA microarray, 198 miRNAs were significantly altered in patients with MFS compared to HVs, including 16 miRNAs with a more than 1.5-fold change. Out of these 16 miRNAs, 10 showed a decreased abundance and 6 an increased abundance. Using RT-qPCR as an independent method, we confirmed the significantly lower abundance levels of miR-340-5 p and miR-339-3 p and the significantly higher abundance levels of miR-150-5 p and miR-126-3 p in MFS patients as compared to the HVs controls. Using an independent set of MFS and HVs individuals, RT-qPCR confirmed the direction of abundance changes and the significance of different abundances between MFS patients and HVs controls for four miRNAs namely miR-362-5 p, miR-339-3 p, miR-340-5 p and miR-210-3 p. Compared with HVs controls, the area under the ROC curve (AUCs) for these validated miRNAs enabled the discrimination of MFS patients from HVs and could be useful biomarkers in MFS patients. The predicted miRNA targets indicated that these miRNAs targeted genes were associated with signal transduction, tissue remodeling and cellular interaction pathways.

Conclusion: The altered abundance level of different miRNAs in whole blood of MFS patients may serve as additional method for the characterization of MFS patients. However, further data including larger cohorts with different cardiac and extra-cardiac manifestations is necessary.