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Gene expression in mitral valve disease

by Apr. 25, 2018, 8:00 AM

Degenerative mitral valve disease (DMVD) is the most common cause of mitral regurgitation — the flow of blood backwards from the left atrium to the left ventricle in the heart. There are two distinct types of DMVD: Barlow’s disease (BD) and fibroelastic deficiency (FED), but the underlying molecular mechanisms that distinguish these diseases are unclear.

Tarek Absi, MD, and colleagues analyzed gene expression in mitral valves from patients with BD or FED who had surgery for severe mitral regurgitation.

In the April issue of The Annals of Thoracic Surgery, they report finding 1,363 genes with altered expression in BD and FED compared to healthy mitral valves, and 329 genes with expression altered only in BD.

The gene for the protease ADAMTS5 was uniquely reduced in BD, and its target versican was increased in the extracellular matrix, possibly contributing to mitral valve leaflet thickening and enlargement. The investigators suggest that the ADAMTS gene family and versican may be new targets for treating mitral valve disease. Studies on the genetic involvement of these targets are underway.

This research was supported in part by the Vanderbilt Clinical and Translational Science Award (RR024975) and by grants from the National Institutes of Health (HL121045, HL100398).

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