Coding and Non-Coding Transcriptomic Landscape of Aortic Complications in Marfan Syndrome

Area of Science:

• Genomics and Molecular Biology
• Cardiovascular Research
• Connective Tissue Disorders

Background:

• Marfan syndrome (MFS) is a rare genetic connective tissue disorder.
• It commonly leads to thoracic aortic aneurysms (TAA) and potentially life-threatening dissection.
• Current management relies on invasive imaging and preventive surgery, highlighting a need for better diagnostic and therapeutic approaches.

Purpose of the Study:

• To review current research on molecular mechanisms in MFS-associated TAA.
• To identify potential non-invasive biomarkers and therapeutic targets.
• To integrate findings from transcriptomic and epigenomic studies.

Main Methods:

• Narrative review of studies investigating coding and non-coding transcriptomes and epigenomes in MFS-induced TAA.
• Analysis of high-throughput data integration.
• Summary of implicated molecular pathways and candidate molecules.

Main Results:

• Key pathways implicated include TGF-β signaling, extracellular matrix remodeling, inflammation, and mitochondrial dysfunction.
• Potential biomarkers like miR-200c were identified.
• Therapeutic targets such as Tfam and miR-632 emerged, linked to mitochondrial function and endothelial-to-mesenchymal transition.

Conclusions:

• Transcriptomic and epigenomic alterations provide insights into MFS-TAA pathogenesis.
• Identified biomarkers and therapeutic targets show promise but require extensive validation in large patient cohorts.
• Further research is crucial for clinical translation and improved MFS management.