Juilee Rege, PhD

Research Assistant Professor, Department of Molecular and Integrative Physiology, University of Michigan

“Insights into the genetic causes of benign adrenal tumors”

Abstract

The adrenal gland is a dynamic organ and a common site of disease - with a prevalence of adrenal tumors reported in 3-10% of the general population and the majority abnormalities being benign cortical adenomas. While most of these tumors are benign, many produce adrenal steroids (aldosterone and/or cortisol) autonomously. While adrenal cortisol excess (Cushing syndrome, CS) causes cardiovascular and metabolic damage beyond cortisol-mediated hypertension and gluconeogenesis, adrenal aldosterone excess (Primary aldosteronism, PA) is the most common cause of endocrine hypertension. Our current research investigates the genetic / somatic mutational causes of both these adrenal diseases of steroid excess and focuses on addressing the critical gaps in our understanding of the etiology and pathophysiology of these diseases. This presentation will focus on our ongoing work unraveling the genetic causes of PA in Black Americans. Black Americans demonstrate a high prevalence of sodium-sensitive hypertension, increased aldosterone sensitivity, and higher susceptibility to hyperaldosteronism and cardiovascular mortality. Characterization of aldosterone-driver mutations in this demographic will help determine and test therapeutic targets that have the potential of inhibiting renin-independent aldosterone production in Black PA patients.