Multiple endocrine neoplasia is an inherited condition in which benign tumors (noncancerous growths) occur in multiple hormone-producing glands (endocrine glands). Among the glands that can be affected are the parathyroid glands (the four small glands in the neck, behind the much larger thyroid gland). Benign tumors in the parathyroid glands can lead to the production of too much of the hormone they produce, a disorder called primary hyperparathyroidism. This is of particular interest to our laboratory.
Several different patterns of multiple endocrine neoplasia have been identified. We have been studying the gene responsible for one of these patterns, multiple endocrine neoplasia type 1. Defects in this gene, which contains the DNA code for a tumor-suppressing protein called menin, have a causal role in the growth of many endocrine gland tumors that are not due to a particular inherited genetic defect (nonhereditary tumors). We are using multiple methods to study how menin suppresses tumors. These methods identify what other molecules and reactive sites in the body interact with menin. Among these menin interactions is one that seems particularly important, junD. This is a biomolecule that regulates how the DNA sequence of genes in a cell nucleus are transcribed into instructions for making proteins.