Greti Aguilera’s group investigates the neuroendocrine mechanisms underlying the stress response, with emphasis on the regulation of the hypothalamic pituitary adrenal (HPA) axis. The researchers have shown that exposure to a repeated somatosensory stress causes hyper-responsiveness of the HPA axis to a novel stress.
The research group of Constantine Stratakis focuses on genetic and molecular disorders of the adrenal cortex, with emphasis on those that are hereditary and associated with multiple tumors in other endocrine glands. The team has identified the PRKAR1A gene, a novel tumor suppressor gene, that, when mutated, leads to Carney complex (CNC) and related syndromes. PRKAR1A is the main regulatory subunit of protein kinase A, a central signalling pathway for many of the cellular functions and hormonal responses. The group also investigates genetic defects in related syndromes such as Peutz-Jeghers. A genome-wide screen recently led to the identification of the locus of the gene responsible for inherited adrenocortical aldosteronomas (familial hyperaldosteronism type II or FH-II).
Jeff Baron’s group investigates the cellular and molecular mechanisms governing bone growth and development and applies its findings to improving our understanding of human skeletal disorders. The researchers found evidence that bone mineral acquisition early in life has little or no effect on adult bone mass because many areas of the juvenile skeleton are replaced in toto through skeletal growth, challenging the widely held assumption that decreased bone mineral acquisition during childhood causes a permanent decrease in bone mineral density that increases the risk of fractures in late adulthood.
Lawrence Nelson’s group focuses on premature ovarian failure, which affects 1 percent of women under age 40. The team has found evidence for steroid cell autoimmunity in approximately 5 percent of these women and uncovered asymptomatic adrenal insufficiency, a potentially fatal disorder, in 3 percent of them. The scientists demonstrated that measuring adrenal antibodies is the best method for detecting asymptomatic adrenal insufficiency in affected women. They also identified the human homolog of the mouse Mater gene, disruption of which leads to infertility in the mouse.
Jack Yanovski’s group, known nationally for its work on pediatric obesity, has shown that overweight and obese children are at greatly increased risk for abnormal glucose tolerance; that treatment with Orlistat is safe, well-tolerated, and moderately effective in producing weight loss in severely overweight adolescents; and that the skeletal maturation and earlier sexual development of African American children is largely accounted for by their increased adiposity.