Research Departments & Organizations
We are interested in using insights gained from the study of human genetic disease to gain a better understanding of molecular mechanisms underlying hypertension and cardiovascular disease. We previously identified a novel Mendelian form of human hypertension exacerbated by pregnancy, and we demonstrated that this disorder is caused by a gain of function mutation in the mineralocorticoid receptor. We have used these findings as a springboard to move our research in two complementary directions. In the first, we are seeking to use information gained from the study of this mutant receptor to improve our understanding of molecular mechanisms of steroid hormone receptor function, and we believe we have uncovered an intramolecular interaction critical to the activity of steroid hormone receptors. We are also pursuing physiologic studies to examine the links between steroid hormones and cardiovascular disease on a tissue–specific level in in vivo models. Finally, we are collaborating with other investigators at Yale to clarify the function of a novel group of renal potassium channels.
Specialized Terms: Hypertension; Cardiovascular disease
Molecular mechanisms of human hypertension.
Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell 2001, 104:545-56. 2001
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.
Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science (New York, N.Y.) 2000, 289:119-23. 2000
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.
Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nature Genetics 1998, 19:279-81. 1998