[Cell receptor defects as the cause of endocrine and metabolic diseases (author's transl)].
The following pathogenetic mechanisms, exemplified by three diseases (diabetes mellitus, hyperthyroidism and familial hypercholesterolemia), are discussed: 1. The impaired interaction between a chemical signal and a specific receptor can be the cause of a disease. 2. The cause for an imparied interaction can be a defect of the receptor, i.e., a reduced number of receptors or an altered receptor affinity, or a wrong signal. 3. A defect of the receptor can be induced by exogenous influences or it can be determined genetically. 4. The receptor and the signal can be modified by their interaction: the number of receptors is reduced by high concentrations of the chemical signal or by increased degradation due to binding to the receptor. 5. The receptor concept opens new perspectives for the pathogenetic understanding, diagnosis and therapy of some diseases.
D000328:Adult; D001665:Binding Sites; D002462:Cell Membrane; D002648:Child; D002784:Cholesterol / Q000096:biosynthesis; D003920:Diabetes Mellitus / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000378:metabolism; D004700:Endocrine System Diseases / Q000209:etiology*; D006801:Humans; D006937:Hypercholesterolemia / Q000378:metabolism; D006980:Hyperthyroidism / Q000378:metabolism; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D008135:Long-Acting Thyroid Stimulator / Q000378:metabolism; D008659:Metabolic Diseases / Q000209:etiology*; D009765:Obesity / Q000378:metabolism; D011972:Receptor, Insulin; D013972:Thyrotropin / Q000378:metabolism; D014284:Triiodothyronine / Q000096:biosynthesis
D007328:Insulin; D014284:Triiodothyronine; D013972:Thyrotropin; D008135:Long-Acting Thyroid Stimulator; D002784:Cholesterol; D011972:Receptor, Insulin
Defekte an Zellrezeptoren als Ursache endokriner und metabolischer Krankheiten.