Receptors and Human Disorders

Ron C Hogg, CMU Geneva, Switzerland
Daniel Bertrand, CMU Geneva, Switzerland

Published online: April 2007

DOI: 10.1002/9780470015902.a0005164.pub2

Receptors are integral membrane proteins that allow signal transmission between cells. Alteration of the genes coding for these proteins result in cellular dysfunction that can be observed as genetically transmissible disorders.

Keywords: synaptic transmission; neurotransmitter; receptors; brain; neurological disorders

Figure 1. Events at a chemical synapse. (a) The action potential (represented in the right panel) propagates along the axon and reaches the synaptic bouton (presynaptic ending). Voltage-dependent calcium channels are symbolized on the bouton (closed state) (b) Depolarization caused by the action potential provokes the opening of the calcium channels and a rapid increase in intracellular calcium that triggers the release of the neurotransmitter contained in the vesicles. (c) Neurotransmitter diffuses in the synaptic cleft and binds to receptors where it triggers the postsynaptic events.
Figure 2. Hydropathy profiles and two-dimensional structure of the ligand-gated channels. (a) Schematic representation of the purinergic receptors with their two transmembrane domains. Both N- and C-terminal are intracellular. (b) Representation of the glutamate receptor family with three transmembrane domains. A short amino acid segment comprised between M1 and M3, the hair-pin loop which is supposed to border the ionic pore is schematized. (c) Topology of the four transmembrane domain receptors. Hydrophathy profiles were obtained using Kyte–Doolittle algorithm. Glycosylation sites in the extracellular and phosphorylation sites in the intracellular domain are symbolized. Positions of the ligand-binding site are represented by the grey boxes.
Figure 3. Putative three-dimensional structure of the neuronal nicotinic acetylcholine receptors. (a) Top panel illustrates the position of the five subunits around an axis of pseudo symmetry. Bottom panel illustrates the side view of the receptor inserted into the membrane bilayer. (b) helices of two TM2 segments bordering the ionic pore have been represented. Position of the amino acids facing the ionic pore are indicated with the single letter code. (c) Alignments of the amino acid sequences of 4 and 2 of the pore forming region TM2 (grey box).
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 Further Reading
    ePath http://www.ncbi.nlm.nih.gov/disease/
    ePath http://www.hapmap.org/
    ePath http://clinicalstudies.info.nih.gov/cgi/protinstitute.cgi?NIMH.0.html

Related Sub-Topics:

Ion Channels | Receptors for Neurotransmitters | Neurobiology of Disease | Synaptic Transmission | Membrane Proteins | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease
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Article Title: Receptors and Human Disorders
 
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Hogg, Ron C, and Bertrand, Daniel(Apr 2007) Receptors and Human Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005164.pub2]