The expanding spectrum of G protein diseases

Z Farfel, HR Bourne, T Iiri - New England Journal of Medicine, 1999 - Mass Medical Soc
Z Farfel, HR Bourne, T Iiri
New England Journal of Medicine, 1999Mass Medical Soc
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 …
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 . . .
The New England Journal Of Medicine