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)

A 24-year-old Japanese woman with Hirschsprung's disease was subjected to the combination of barium enema, anorectal manometry, and a histochemical study of acetylcholinesterase (AChE) activity in rectal suction biopsy. The histochemistry revealed a marked increase of AChE positive nerve fibers. The importance of such a study is stressed in order to diagnose Hirschsprung's disease correctly, even in adults. A Z-shaped anastomosis as a modification of Duhamel's method was carried out. The postoperative course was uneventful and she now has normal bowel evacuation.
Dis Colon Rectum 1984 May
PMID:Hirschsprung's disease in an adult. Special reference to histochemical determination of the acetylcholinesterase activity. 671 50

Gastrointestinal motility disorders are of considerable clinical importance in humans and animals. Abnormalities of smooth muscle and the enteric nervous system have been described. We have identified and characterized a new mutant stock of rats that develops severe megacecum and colon with pseudo-obstruction, Familial Megacecum and Colon (FMC). The inheritance pattern of FMC was characterized by selective breeding. Gastrointestinal motility was evaluated radiographically. Complete pathologic evaluations, including ultrastructural examination and staining of colonic segments for acetylcholinesterase, peripherin, vasoactive intestinal peptide, substance P, nitric oxide synthase, and somatostatin, were performed. Spontaneous contractility and contractile force in isolated colonic muscle strips were examined. Familial megacecum and colon is inherited as an autosomal recessive trait. The markedly dilated cecum and proximal portion of the colon are followed by a short, funnel-shaped segment and distal portion of the colon with normal or slightly reduced lumen. Although clinical features and gross anatomic changes of the colon resemble those of Hirschsprung's disease in humans and animals, aganglionosis is not a feature of FMC. An increase in somatostatin staining was observed in dilated regions of bowel. The spontaneous contractile frequency and contractile force were diminished in the affected colon. Familial megacecum and colon is a new mutant, distinct from previously described hereditary and targeted mutant rodent models that develop megacecum and colon as a result of distal colonic dysfunction. The functional or morphologic defect(s) that result in colonic dysfunction in rats with FMC was not determined. The disease may result from an absence or overexpression of a single or group of neurotransmitters or their respective neurons, receptor abnormalities, or defects in the intestinal pacemaker system.
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PMID:Familial megacecum and colon in the rat: a new model of gastrointestinal neuromuscular dysfunction. 1009 23

Hypoganglionosis of the myenteric plexus of the colon is not clearly defined and seldom investigated. Colon segments from 15 children with an extended oligoeuronal hypoganglionosis up to the proximal resection end were morphometrically studied and compared to normally innervated colon segments. The study was performed with resected specimens from 7 children with isolated hypoganglionoses, 8 children with a Hirschsprung-associated hypoganglionosis, and 12 colon segments with normal innervation. The resected colon specimens were caudo-cranial coiled. The native tissue was frozen at -80 degrees C on a cryostat carrier and cut at -20 degrees C in 15 microns-thick sections (equivalent to 4-5-micron-thick paraffin sections). The air-dried sections underwent an enzyme-histochemical procedure for an acetylcholinesterase reaction to stain the parasympathetically innervated myenteric plexus. For histological identification and morphometric measurements, ganglia and nerve cells were selectively stained using a lactic dehydrogenase reaction. The morphometric measurements were performed with an optic-electronic image analysis system that determined ganglion size, ganglion distances, nerve cell number per ganglion, and ganglion number per mm colon. The results showed that hypoganglionosis of the myenteric plexus is characterised by a 42% decrease in plexus area and a 55% decrease of the nerve cell number per mm length of colon. The number and area of myenteric ganglia showed a decrease of 59% and a doubling of the ganglion distances. The histopathological diagnosis of a hypoganglionosis of the colon was not necessarily an indication of a chronic constipation, but rather an indication of a disposition for constipation. A chronic constipation is often caused by a long hypoganglionic segment proximal to a resected short Hirschsprung segment.
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PMID:A correlative morphometric and clinical investigation of hypoganglionosis of the colon in children. 1034 12

Carboxylesterases hydrolyze numerous endogenous and foreign compounds with diverse structures. Humans and rodents express multiple forms of carboxylesterases, which share a high degree of sequence identity (approximately 70%). Alignment analyses locate in carboxylesterases several functional subsites such the catalytic triad as seen in acetylcholinesterase. The aim of this study was to determine among human and rodent carboxylesterases the immunorelatedness, overlapping substrate specificity, differential sensitivity to serine enzyme inhibitors, tissue distribution, and tumor-related expression. Six antibodies against whole carboxylesterases or synthetic peptides were tested for their reactivity toward 11 human or rodent recombinant carboxylesterases. The antibodies against whole proteins generally exhibited a broader cross-reactivity than the anti-peptide antibodies. All carboxylesterases hydrolyzed para-nitrophenylacetate and para-nitrophenylbutyrate. However, the relative activity varied markedly from enzyme to enzyme (>20-fold), and some carboxylesterases showed a clear substrate preference. Carboxylesterases with the same functional subsites had a similar profile on substrate specificity and sensitivity toward phenylmethylsulfonyl fluoride (PMSF) and paraoxon, suggesting that these subsites play determinant roles in the recognition of substrates and inhibitors. Among three human carboxylesterases, HCE-1 hydrolyzed both substrates to a similar extent, whereas HCE-2 and HCE-3 showed an opposite substrate preference. All three enzymes were inhibited by PMSF and paraoxon, but they showed a marked difference in relative sensitivities. Based on immunoblotting analyses, HCE-1 was present in all tissues examined, whereas HCE-2 and HCE-3 were expressed in a tissue-restricted pattern. Colon carcinomas expressed slightly higher levels of HCE-1 and HCE-2 than the adjacent normal tissues, whereas the opposite was true with HCE-3.
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PMID:Human and rodent carboxylesterases: immunorelatedness, overlapping substrate specificity, differential sensitivity to serine enzyme inhibitors, and tumor-related expression. 1195 Jul 85