Why the study?
Isolated posterior leaflet mitral valve prolapse is considered a degenerative disease and is often undiagnosed until chordal rupture, prompting investigation into its familial phenotype, recurrence, genetic background, and pathophysiological processes.
Do genetic variants in the FilGAP gene impair cellular adhesion and mechano-transduction in familial isolated posterior mitral valve prolapse?
Do genetic variants in the FilGAP gene impair cellular adhesion and mechano-transduction in familial isolated posterior mitral valve prolapse?
Answers are grounded in this paper and cite their sources.
Genetic variants in the FilGAP gene impair cell adhesion and mechano-transduction, driving the pathogenesis of familial isolated posterior mitral valve prolapse.
BACKGROUND: Isolated posterior leaflet mitral valve prolapse (PostMVP), a common form of MVP, often referred as fibroelastic deficiency, is considered a degenerative disease. PostMVP patients are usually asymptomatic and often undiagnosed until chordal rupture. The present study aims to characterize familial PostMVP phenotype and familial recurrence, its genetic background, and the pathophysiological processes involved. METHODS: investigations were performed in zebrafishand in Hek293T cells. RESULTS: variants impairing cellular adhesion and mechano-transduction capacities. CONCLUSIONS: further reinforces the pivotal role of mechano-transduction pathways in the pathogenesis of MVP. CLINICAL PERSPECTIVE: gene, which encodes for the FilGAP protein, cause progressive Post MVP in familial cases, and impair cell adhesion and mechano-transduction capacities.
No takes yet. Share an insight, caveat, or question.
Rimbert et al. (2024) studied this question.
Synapse has enriched 8 closely related papers on similar clinical questions. Consider them for comparative context: