Developmental basis for filamin-A-associated myxomatous mitral valve disease.

ABSTRACT:

Aims

We hypothesized that the structure and function of the mature valves is largely dependent upon how these tissues are built during development, and defects in how the valves are built can lead to the pathological progression of a disease phenotype. Thus, we sought to uncover potential developmental origins and mechanistic underpinnings causal to myxomatous mitral valve disease. We focus on how filamin-A, a cytoskeletal binding protein with strong links to human myxomatous valve disease, can function as a regulatory interface to control proper mitral valve development.

Methods and results

Filamin-A-deficient mice exhibit abnormally enlarged mitral valves during foetal life, which progresses to a myxomatous phenotype by 2 months of age. Through expression studies, in silic

SUBMITTER: Sauls K 

PROVIDER: S-EPMC3444235 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature