Please use this identifier to cite or link to this item: doi:10.22028/D291-35343
Title: Deregulated microRNA and mRNA expression profiles in the peripheral blood of patients with Marfan syndrome
Author(s): Abu-Halima, Masood
Kahraman, Mustafa
Henn, Dominic
Rädle-Hurst, Tanja
Keller, Andreas
Abdul-Khaliq, Hashim
Meese, Eckart
Language: English
Title: Journal of Translational Medicine
Volume: 16
Issue: 1
Publisher/Platform: BMC
Year of Publication: 2018
Free key words: MicroRNA
Integration analysis
Marfan syndrome
DDC notations: 610 Medicine and health
Publikation type: Journal Article
Abstract: Background MicroRNAs (miRNAs) are small RNAs regulating gene expression post-transcriptionally. While acquired changes of miRNA and mRNA profiles in cancer have been extensively studied, little is known about expression changes of circulating miRNAs and messenger RNAs (mRNA) in monogenic constitutional anomalies affecting several organ systems, like Marfan syndrome (MFS). We performed integrated miRNA and mRNA expression profiling in blood samples of Marfan patients in order to investigate deregulated miRNA and mRNA networks in these patients which could serve as potential diagnostic and prognostic tools for MFS therapy. Methods MiRNA and mRNA expression profiles were determined in blood samples from MFS patients (n = 7) and from healthy volunteer controls (n = 7) by microarray analysis. Enrichment analyses of altered mRNA expression were identified using bioinformatic tools. Results A total of 28 miRNAs and 32 mRNAs were found to be significantly altered in MFS patients compared to controls (> 2.0-fold change, adjusted P < 0.05). The expression of 11 miRNA and 6 mRNA candidates was validated by RT-qPCR in an independent cohort of 26 MFS patients and 26 matched HV controls. Significant inverse correlations were evident between 8 miRNAs and 5 mRNAs involved in vascular pathology, inflammation and telomerase regulation. Significant positive correlations were present for 7 miRNAs with age, for 2 miRNAs with the MFS aortic root status (Z-score) and for 7 miRNAs with left ventricular end-diastolic diameter in MFS patients. In addition, miR-331-3p was significantly up-regulated in MFS patients without mitral valve prolapse (MVP) as compared with patients with MVP. Conclusions Our data show deregulated gene and miRNA expression profiles in the peripheral blood of MFS patients, demonstrating several candidates for prognostic biomarkers for cardiovascular manifestations in MFS as well as targets for novel therapeutic approaches. A deregulation of miRNA expression seems to play an important role in MFS, highlighting the plethora of effects on post-transcriptional regulation of miRNAs and mRNAs initiated by constitutional mutations in single genes.
DOI of the first publication: 10.1186/s12967-018-1429-3
Link to this record: urn:nbn:de:bsz:291--ds-353431
ISSN: 1479-5876
Date of registration: 26-Jan-2022
Description of the related object: Additional files
Related object:
Faculty: M - Medizinische Fakultät
Department: M - Humangenetik
M - Medizinische Biometrie, Epidemiologie und medizinische Informatik
M - Pädiatrie
Professorship: M - Prof. Dr. Hashim Abdul-Khaliq
M - Univ.-Prof. Dr. Andreas Keller
M - Prof. Dr. Eckhart Meese
M - Prof. Dr. Tanja Rädle-Hurst
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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