Constantine Stratakis' Section on Endocrinology and Genetics investigates the genetic and molecular mechanisms leading to disorders affecting the adrenal cortex, with emphasis on those that are developmental, hereditary, and associated with adrenal hypoplasia or hyperplasia, multiple tumors, and abnormalities in other endocrine glands (especially the pituitary gland and, to a lesser extent, the thyroid gland). The Section has studied congenital adrenal hypoplasia caused by triple A syndrome; several endocrine deficiencies; familial hyperaldosteronism; adrenocortical and thyroid cancer; pituitary tumors; multiple endocrine neoplasia (MEN) syndromes affecting the pituitary, thyroid, and adrenal glands; and Carney complex (CNC), an autosomal dominant disease. Stratakis and colleagues first identified the regulatory subunit type 1-α (RIα) of protein kinase A (PKA) (the PRKAR1A gene), which is mutated in most CNC patients. Most recently, the Section found phosphodiesterase-11A (PDE11A) mutations in patients with isolated adrenal hyperplasia and Cushing syndrome. A significant part of the Section's work focuses on cyclic AMP (cAMP)/PKA–stimulated signaling pathways, PKA effects on tumor suppression, and/or development and the cell cycle. The Section's various studies take advantage of prkar1a and pde11a gene mouse models, in which the respective genes have been knocked out. Genome-wide searches for other genes responsible for CNC and related diseases of the adrenal, pituitary and other endocrine glands are ongoing.
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