Comprehensive Physiology Wiley Online Library

Membrane Receptor–Linked Disease States

Full Article on Wiley Online Library


The sections in this article are:

1 Genetic Disorders of Receptor and Effector Molecules
1.1 Types of Receptor
1.2 Clinical Disorders
1.3 C Proteins
1.4 Receptors and Oncogenes
1.5 Antibodies Against Receptors and Autoimmune Disorders
2 Seven‐Transmembrane‐Receptor/G Protein–Coupled Disorders
2.1 Thyroid‐Stimulating Hormone Receptor/Toxic Thyroid Hyperplasia/Thyroid‐Stimulating Hormone Resistance
2.2 Luteinizing Hormone Receptor/Precocious Puberty/ Leydig Cell Hypoplasia
2.3 Adrenocorticotropic Hormone Receptor/Familial Glucocorticoid Deficiency
2.4 Arginine Vasopressin/Nephrogenic Diabetes Insipidus
2.5 Rhodopsin/Retinifis Pigmentosa
2.6 Parathyroid Hormone/Parathyroid Hormone–Related Peptide Receptor/Jansen‐Type Metaphyseal Chondrodysplasia
2.7 β3‐Adrenergic Receptor/Obesity
2.8 Growth Hormone–Releasing Hormone Receptor
2.9 Somatostatin Receptor
3 Mutations of G Proteins
3.1 Gαs Mutations/Albright Hereditary Osteodystrophy
4 Single‐Transmembrane‐Receptor–Coupled Diseases
4.1 Insulin Receptor/Leprechaunism/Rabson‐Mendenhall Syndrome/Type A Insulin Resistance
4.2 Growth Hormone Receptor/Laron Dwarfism
4.3 Insulin‐Like Growth Factor‐1 Receptor
5 Four‐Transmembrane‐Segment Receptor Diseases
5.1 Gamma‐Aminobutyric Acid and Serotonin Receptors
5.2 Acetylcholine Receptor/Slow‐Channel Syndrome
5.3 Abnormal Recognition, Regulation, and Signaling Pathways
6 Receptor‐Specific Cross‐Over Disease
6.1 Hyperprolactinemia Syndrome
6.2 Trophoblastic Tumors/Human Chorionic Gonadotropin
6.3 Non‐Islet Cell Neoplasms/Type II Insulin‐Like Growth Factor
7 Oncogenic Receptor Defects
7.1 Thyroid‐Stimulating Hormone Receptor/ Thyroid Adenomas
7.2 Gαs Mutations/McCune‐Albright Syndrome
7.3 Disorders of Ras and Ras‐Like Proto‐oncogenes
8 Antireceptor Antibodies and Autoimmune Disease
8.1 Effect of Antireceptor Antibodies
8.2 Thyroid‐Stimulating Hormone Receptor Antibodies and Graves' Disease
8.3 Thyroid Growth–Stimulating Antibodies
8.4 Insulin Receptor Antibodies
8.5 β‐Adrenergic Receptor Antibodies
8.6 Myasthenia Gravis
8.7 Other Receptor Antibodies
Figure 1. Figure 1.

Model of the thyroid‐stimulating hormone (TSH) receptor molecule showing amino‐acid residues, orientation of the receptor in respect to the thyroid cell plasma membrane, its seven‐transmembrane loops, and positions of known germ‐line and somatic mutations.

[Reprinted with permission from ref. 177.]
Figure 2. Figure 2.

Mechanism of action of thyroid‐stimulating hormone (TSH) receptor antibodies. Antibodies bind to the TSH receptor, where they block access of TSH, causing hyperthyroidism as a result of stimulation of cAMP or hypothyroidism by blocking TSH action. T4, thyroxine; T3, triiodothyronine; aAb, autoantibody; R, receptor; G, G protein; E, effector.

Figure 3. Figure 3.

Mechanism of action of insulin receptor antibodies. Antibodies bind to the insulin receptor, where they block access of insulin, causing hyperglycemia with or without insulin resistance and diabetes melitus (A) or hypoglycemia by mimicking insulin action (B). Ins, insulin; aAb, autoantibody; Ins‐r, insulin receptor.

Figure 1.

Model of the thyroid‐stimulating hormone (TSH) receptor molecule showing amino‐acid residues, orientation of the receptor in respect to the thyroid cell plasma membrane, its seven‐transmembrane loops, and positions of known germ‐line and somatic mutations.

[Reprinted with permission from ref. 177.]

Figure 2.

Mechanism of action of thyroid‐stimulating hormone (TSH) receptor antibodies. Antibodies bind to the TSH receptor, where they block access of TSH, causing hyperthyroidism as a result of stimulation of cAMP or hypothyroidism by blocking TSH action. T4, thyroxine; T3, triiodothyronine; aAb, autoantibody; R, receptor; G, G protein; E, effector.

Figure 3.

Mechanism of action of insulin receptor antibodies. Antibodies bind to the insulin receptor, where they block access of insulin, causing hyperglycemia with or without insulin resistance and diabetes melitus (A) or hypoglycemia by mimicking insulin action (B). Ins, insulin; aAb, autoantibody; Ins‐r, insulin receptor.

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V. Nebes, J. Wall. Membrane Receptor–Linked Disease States. Compr Physiol 2011, Supplement 20: Handbook of Physiology, The Endocrine System, Cellular Endocrinology: 293-324. First published in print 1998. doi: 10.1002/cphy.cp070112