The Expanding Spectrum of G Protein Diseases

Abstract

Disease-causing mutations often reveal key pathways of physiologic regulation and their underlying molecular mechanisms. Mutations in the trimeric guanine nucleotide-binding proteins (G proteins), which relay signals initiated by photons, odorants, and a host of hormones and neurotransmitters, cause many diseases. For the most part, the diseases are confined to a set of fascinating but rare endocrine disorders (Table 1).¹ A recent study suggests that mutations in G proteins can also lead to essential hypertension.² If this study is correct, hypertension may be one of several common disorders caused by defects in this ubiquitous family of signaling molecules.This review focuses . . .