ABSTRACT
Considerable attention has focused on deciphering the hypothalamic pathways that mediate the behavioral and metabolic effects of leptin. Leptin stimulates the expression of proopiomelanocortin (POMC) which is sequentially cleaved by prohormone convertases to yield the melanocortin peptides. In this chapter, we here review genetic defects impairing the synthesis and processing of POMC which have clearly established that the melanocortin system plays a critical role in energy homeostasis in humans.
