Here we review the clinical and translational implications of the caveolin gene family for understanding the pathogenesis of human diseases, including breast and prostate cancers, pulmonary hypertension, cardiomyopathy, diabetes, and muscular dystrophy. Detailed phenotypic analysis of caveolin knockout mice has served to highlight the crucial role of a caveolin deficiency in the pathogenesis of many human disease processes. Mutations in the human caveolin genes are associated with a number of established genetic disorders (such as breast cancer, lipodystrophy, muscular dystrophy, and cardiomyopathy), making the caveolins important and novel targets for drug development. The implementation of new strategies for caveolin replacement therapy-including caveolin mimetic peptides-is ongoing.
Recommended CitationMercier, Isabelle; Jasmin, Jean-Francois; Pavlides, Stephanos; Minetti, Carlo; Flomenberg, Neal; Pestell, Richard G; Frank, Philippe G; Sotgia, Federica; and Lisanti, Michael P, "Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders." (2009). Department of Stem Cell Biology and Regenerative Medicine Faculty Papers & Presentations. Paper 15.