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

Six cases of intestinal ganglioneuromatosis (GN) included in this study reveal the occurrence of two morphologic patterns. Transmural GN was characterized by neural hyperplasia in all layers of the bowel wall with predominant involvement of the myenteric plexus. It was found in three patients affected by multiple endocrine neoplasia IIb. Mucosal GN, having predominant involvement of the mucosa without concomitant hyperplasia of the myenteric plexus, was associated with von Recklinghausen's disease, adenocarcinoma of the colon, and multiple adenomas with megacolon in one case each. Clinicopathologic correlations and review of the literature suggest that mucosal GN might represent a distinct entity with a lower morbidity rate than the transmural variant. Immunohistochemical stains reveal considerable heterogeneity. S-100 protein, neuron-specific enolase, and synapto-physin immunostaining followed the distribution of the nervous hyperplasia in the different intestinal layers as identified morphologically and allowed precise determination of the proliferating cells. Increased reactivity for vasoactive intestinal polypeptide, opioid peptides leu-enkephalin and met-enkephalin, and substance P was present in all cases with transmural involvement; mucosal GN showed normal reactivity for opioid peptides and focal increased staining for substance P (one case) and vasoactive intestinal polypeptide (two cases) in the lamina propria. Mild increased immunoreactivity for tyrosine hydroxylase was present in the myenteric plexus of four out of four cases. Histochemical determination of acetylcholinesterase, performed in one case of transmural type, demonstrated hyperplasia of parasympathetic fibers and neurons. Electron microscopic study of another case suggested the presence of several neurotransmitters. These results indicate that the physiopathology of GN is related to a complex hyperplasia of several peptidergic, cholinergic, and probably adrenergic nerve fibers instead of a selective overgrowth of one type of nerve fiber.
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PMID:Intestinal ganglioneuromatosis: mucosal and transmural types. A clinicopathologic and immunohistochemical study of six cases. 170 7

The lethal spotted mutant mouse (ls/ls) develops congenital megacolon because of the absence of ganglia in the terminal colon. This aganglionosis results from a failure of neural crest cells to colonize this area during fetal life. We have postulated that the microenvironment of the aganglionic segment of bowel is abnormal. Our hypothesis suggests that this abnormal enteric microenvironment fosters the sprouting of neuritic processes. We further propose that neural and glial precursors cease to migrate once they have extended their definitive processes. As a result, the area distal to the site where neurite extension is favored does not become colonized by neural or glial precursors. A prediction of this hypothesis is that the aganglionic tissue should be innervated by axons from neurons located both in the more proximal ganglionated bowel and in ganglia located outside the gut. Neurons and their processes in control and ls/ls terminal gut were located by the histochemical demonstration of acetylcholinesterase (AChE) activity and their structure was classified as intrinsic (enteric) or extrinsic in type by electron microscopy. In ls/ls mice the submucosal plexus was much more severely affected than the myenteric plexus. No submucosal ganglia were found within 30 mm of the anus. In contrast, myenteric ganglia extended to within 4 mm of the anus on the mesenteric side of the gut and to within 15 mm on the antimesenteric side. Rostral to the areas that were absolutely aganglionic, both plexuses were hypoganglionic, especially the submucosal plexus, which was hypoganglionic throughout the entire colon. Both the aganglionic and caudal hypoganglionic zones of the ls/ls bowel were penetrated by large nerve trunks that had the ultrastructural characteristics of extra-enteric peripheral nerve. Unusual ganglia, outside the enteric musculature in the adventitia of the colon, were connected to these trunks. The location of the cell bodies of origin of the nerve fibers in the terminal colon of control mice and in the aganglionic segment of the bowel in ls/ls mice was determined by following the retrograde transport of tracers injected as close as possible to the anus. An extrinsic innervation originating from the inferior mesenteric ganglion and dorsal root ganglia (L6-S1) was found in both types of animal. In control but not ls/ls mice retrograde labeling was also observed in the sacral parasympathetic nucleus of the spinal cord. In addition, neuritic processes were traced to neurons in myenteric ganglia. In control mice, these labeled neurons were present in ganglia within the injection site as well as in bowel rostral and caudal to it.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Origin and morphology of nerve fibers in the aganglionic colon of the lethal spotted (ls/ls) mutant mouse. 357 27

Localization of acetylcholinesterase activity in congenital megacolon was studied by light and electron microscopy. Acetylcholinesterase activity was strongly positive at the light microscopic level in the Auerbach's plexus of the normal segment and in proliferated nerve fibers of the aganglionic segment. The reaction product observed by electron microscopy was deposited in and between the plasma membranes of the ganglion cells, nerve fibers, and their terminals. The product was also observed in the rough endoplasmic reticulum, nuclear envelope, and Golgi apparatus of the ganglion cells. Acetylcholinesterase activity in the aganglionic segment was observed in and between the plasma membranes of nerve fibers and nerve terminals, which terminated in proximity to smooth muscle cells. Reaction deposits were also observed in the interspace between nerve terminals and smooth muscle cells, suggesting direct innervation of smooth muscles by extrinsic nerve fibers.
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PMID:Ultrastructural localization of acetylcholinesterase activity in Hirschsprung's disease. 381 32

The myenteric plexus of the colon was studied ultrastructurally in a colony of an Ls Ls strain of mice manifesting a piebald coat color mutation associated with a high incidence of genetically determined aganglionic megacolon. Ultrastructural studies were histochemically supplemented by the Maillet technic and stains for acetylcholinesterase and catecholamines. The development of megacolon did not appear to require total aganglionosis, since ostensibly aganglionic areas contained rare ganglion cells. In the distal narrowed segment, both cholinergic and adrenergic fibers in the muscularis, submucosa and mucosa were somewhat reduced. In the mouse, the dilated portion showed an abrupt increase in adrenergic fibers. These findings are related to the pathophysiology of the disorder. The increasing degenerative changes seen in myenteric plexus structures from the fetus to adult suggest that aganglionic megacolon may be an abiotrophy, wherein the congenitally deficient myenteric plexus may be unusually predisposed to postnatal injury and degeneration.
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PMID:Ultrastructural and histochemical studies of murine megacolon. 508 Jul 2

Increased acetylthiocholinesterase (AchE) reactivity in the rectal lamina propria and lamina muscularis mucosae was used to diagnose Hirschsprung's disease. We processed 131 specimens with the AchE reaction; 43 were suction biopsy specimens and the rest were full-thickness specimens. Of the 68 specimens in which neurocytes were present, none demonstrated a diffuse increase in the number of nerve fibers. However, 15 showed focal increases in the numbers of fibers that were not large enough to be regarded as indicative of Hirschsprung's disease. All patients with a diffuse increase in nerve fibers, regardless of the type of biopsy, were shown to have Hirschsprung's disease. The AchE staining reaction did, however, produce a 29% rate of false-negative reactions (16 of 56 specimens) in patients with Hirschsprung's disease. These data demonstrate that an abnormal pattern of AchE reaction is diagnostic of aganglionic megacolon, whereas a normal pattern does not exclude the disease.
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PMID:Acetylthiocholinesterase staining activity of rectal mucosa. Its use in the diagnosis of Hirschsprung's disease. 618 58

Using a modification of the histochemical acetylcholinesterase (ACE) reaction of Karnovsky and Roots, 154 suction rectal biopsies performed during the clinical investigation for Hirschsprung's disease were examined and compared to simultaneously obtained paraffin-embedded, hematoxylin-eosin (H&E)-stained tissue. Serial paraffin sections were adequate to identify normal ganglia or to raise suspicion of Hirschsprung disease at initial biopsy in 129 of 154 (83%) cases. Interpretation of the ACE-stained tissue correlated exactly with this interpretation in 123 instances; 6 cases had uninterpretable ACE frozen sections. From this group of adequate paraffin sections, 18 patients with aganglionic megacolon were identified with the ACE preparation, relying primarily on a pattern of unusually thick and numerous nerve fibers within the muscularis mucosa. Twenty-five paraffin-embedded specimens were deemed uninterpretable because of absent or insufficient submucosa or because of location. The ACE-stained section, however, correctly predicted the presence or absence of ganglia in 23 of these additional cases where the diagnosis could subsequently be confirmed either by repeat biopsy or repeated clinical follow-up examination of the patient. Using the ACE method alone, therefore, a diagnosis was obtainable at initial biopsy in 146 of 154 specimens (95%). This percentage was increased to 99% (152 of 154 specimens) if both ACE and paraffin sections were utilized. Recognition of the normal and abnormal patterns of nerve fiber staining in ACE preparations permits reliable, decisive interpretation of rectal suction biopsies in the evaluation of Hirschsprung's disease.
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PMID:Acetylcholinesterase histochemistry and the diagnosis of Hirschsprung's disease: a 31/2-year experience. 620 94

Density gradient ultracentrifugation shows that two molecular forms of acetylcholinesterase (4S and 10S) can be distinguished in the bowels of both normal subjects and Hirschsprung's disease patients. In this disease, besides the very large elevation of acetylcholinesterase activity, the relative distribution of the heavy and light forms was also changed. In the affected bowel the 10S/4S ratio was 2.5 times higher than the normal value. It is assumed that the accumulation of the 10S form might be a response of the intestine to this pathological state. It is also suggested that the increase in the heavy form is closely connected with the nerve fibre proliferation in the aganglionic megacolon.
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PMID:Change in the distribution of acetylcholinesterase molecular forms in Hirschsprung's disease. 647 Jul 11

61 cases of neuronal intestinal dysplasia are compared in a follow-up study. Two clinically and bioptically different types of intestinal dysplasia can be distinguished. One type with involvement of the sympathetic nerves and the clinical signs of intestinal spasticity, ulcerative colitis with haemorrhagic stools. Histotopochemically, this disease pattern shows aplasia or hypoplasia of the sympathetic nerves with enhanced parasympathetic activity (elevated acetylcholinesterase activity in the lamina propria mucosae and orbicular musculature). One type with involvement of the plexus submucosus clinically accompanied by adynamia of the colon with megacolon formation. This type becomes manifest usually around the 6th month of life. Bioptically there are large groups of ganglion cells and Schwann's cells, but there is also acetylcholinesterase activity as in the other type. This 2nd form is seen more frequently. A third form is a combination of both diseases. The incidence rate of neuronal intestinal dysplasia is equal to that of Hirschsprung's disease.
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PMID:[Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis]. 664 3

Histochemical and biochemical examinations of rectal biopsy specimens were performed in 13 patients with Hirschsprung's disease and in seven with idiopathic constipation and no megacolon. Serum and erythrocyte acetylcholinesterase (AchE) activity in these two groups was compared with that in 30 normal controls. AchE staining of rectal biopsy specimens proved to be a reliable and convenient diagnostic approach in patients with Hirschsprung's disease. Biochemical assay of AchE activity in rectal biopsy specimens was also of value in the diagnosis, however, there was an overlap between Hirschsprung's disease and idiopathic constipation. Erythrocyte AchE activity correlated well with AchE activity in rectal biopsy specimens. Therefore, assays of erythrocyte AchE activity provided useful additional information, especially in screening tests for Hirschsprung's disease.
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PMID:Acetylcholinesterase activity in rectal mucosa and blood in the diagnosis of Hirschsprung's disease. 688 57

The diagnosis of congenital megacolon can only rarely be established in adult cases with dilatation of the rectum and sigma, since the narrow aganglionic segment and increased levels of plasma acetylcholinesterase activity are usually lacking in adult cases,--these findings being typical for congenital megacolon. Idiopathic megacolon thus is the correct diagnosis in most of these adult cases. Surgical removal of the dilated parts of the intestine and end-to-end anastomosis yield satisfactory results, thus a colostomy is not necessary.
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PMID:[Idiopathic megacolon (author's transl)]. 707 Jan 93


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