Receptors in disease: an overview.

Hormones and certain other signal molecules bind to plasma membrane or intracellular receptors producing signals that initiate their physiological effects. Recent understanding of receptors has resulted in recognition of several categories of receptor-related abnormalities. (a) Congenital receptor abnormalities such as receptor deficiency syndrome. LDL receptor defect in familial hypercholesteremia and primary androgen resistance are examples. (b) Postreceptor coupling abnormalities such as pseudohypoparathyroidism type Ia where there are reduced levels of guanine nucleotide receptor cyclase coupling protein. (c) Acquired receptor abnormalities, such as presence of circulating antireceptor antibodies. Such antibodies have been implicated in the pathophysiology of many diseases including Graves' disease and myasthenia gravis.