Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.1.7 (acetylcholinesterase)
 28,390 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Broadly speaking, the red cell membrane is comprised of --a cholesterol-rich phospholipid bilayer that is studded by a large number of trans-bilayer proteins, --of glycosylphosphatidylinositol-anchored proteins (GPI-proteins) standing outside, and --an important protein assembly, the erythrocyte or membrane skeleton, that laminates the inner surface of the bilayer. Among the trans-bilayer proteins, one finds the anion exchanger, the glycophorins, the glucose transporter, a variety of cation transporters and pumps, and of course proteins carrying the epitopes of many blood groups. Among the GPI-proteins, one encounters the acetylcholinesterase and the decay-accelerating factor (CD 55). Among the skeletal proteins, finally, one recognises spectrin, actin (and a number of actin-binding proteins other than spectrin: dematin, tropomyosin, tropomodulin, etc.), protein 4.1 and protein p55. Spectrin heterotetramer organizes into a bidimensional network with a hexagonal mesh on the average. This network is linked to trans-bilayer proteins, through the complex beta-spectrin-ankyrin-anion exchanger (+ protein 4.2) on the one hand and, on the other hand, through the triangular interaction between protein 4.1, glycophorin C and protein p55. The sequence of the above proteins and the exon-intron organisation of their genes are known in most cases. Many proteins have a widespread tissue distribution in the form of variants adapted to their local functions. Such variants may be the products of multigene families (anion exchanger, ankyrin, spectrin), or derive from a single gene (protein 4.1, protein 4.2), the transcripts of which undergo cell-specific alternative splicing. It has been established that many congenital haemolytic anaemias result from mutations altering the above-mentioned genes. We will provide two examples. Hereditary elliptocytosis stems from an array of mutations located at, or near the head-to-head self-association region of two spectrin alpha beta dimers, or from mutations which, most often, yield a reduction (heterozygous state) or the lack (homozygous state) of protein 4.1. The aggravation of elliptocytosis associated with alpha-spectrin mutations frequently yields poikilocytosis and usually stems from the occurrence, in trans, of a low expression allele, allele alpha LELY. Hereditary spherocytosis derives from mutations in the ankyrin gene (80% of the cases), the anion exchanger gene (10-15% of the cases), the protein 4.2 gene (rare cases) and the alpha- and beta-spectrin genes (rare cases). Anion exchanger mutations usually cause the decrease in this protein (heterozygous state).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Red cell membrane polypeptides under normal conditions and in genetic disorders. 854 17

Scopolamine-treated rats are commonly used as a psychopharmacological model of memory dysfunction and have been extensively studied to establish the effectiveness of acetylcholinesterase inhibitors in the treatment of Alzheimer's disease. Scopolamine is a muscarinic acetylcholine receptor antagonist that induces memory deficits in young subjects similar to those occurring during aging. The amnesic effect of scopolamine is well established but the molecular and cellular mechanisms that sustain its neuropharmacological action are still unclear. The present genome wide study investigates hippocampal gene expression profiling in scopolamine-treated adult rats following stimulation in a spatial memory task. Using microarray and quantitative real-time RT-PCR approaches, we identified several genes previously known to be associated with memory processes (Homer1, GABA(B) receptor, early growth response 1, prodynorphin, VGF nerve growth factor inducible) and multiple novel candidate genes possibly involved in cognition (including calcium/calmodulin-dependent protein kinase kinase 2, dual specificity phosphatase 5 and 6, glycophorin C) that were altered following scopolamine treatment. Moreover, we found that stable over-expression of glutamatergic components Homer1a and 1c in the hippocampus of adult rats induced by recombinant adeno-associated virus vector abolished memory improvement produced by the GABA(B) receptor antagonist SGS742 in scopolamine-treated rats. Taken together, these results reveal novel genes and mechanisms involved in scopolamine-induced amnesia, and demonstrate the involvement of both GABA and glutamate neurotransmission in this animal model of cognitive dysfunctions.
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PMID:Hippocampal gene expression profiling reveals the possible involvement of Homer1 and GABA(B) receptors in scopolamine-induced amnesia. 1754 11