Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe a 31-year-old woman of British Isle ancestry who developed a syndrome resembling familial dysautonomia in her early teenage years. Predominant manifestations included achalasia, severe orthostatic hypotension, and abnormal sweating. The study included resting and stimulated fractional catecholamines, which were almost nonexistent in both situations, and urinary catecholamines, demonstrating an increase in dopamine degradation products. Immunohistochemistry of saphenous vein was negative for dopamine beta-hydroxylase (DBH), serotonin (5-HT) and several vasoactive neuropeptides. The only neuropeptide detected at levels thought to be physiologically relevant was calcitonin gene-related peptide (CGRP), a vasodilator. This was in contrast to control veins, all of which had DBH and neuropeptide Y immunoreactive fibers but few CGRP fibers. Also in contrast to controls, electron microscopy of the saphenous vein indicated a close to total absence of terminals with norepinephrine containing vesicles. Sural nerve biopsy showed, on electron microscopy, a considerable reduction in the number of myelinated fibers, while unmyelinated fibers appeared to be in the normal range. The authors suggest, from the above findings, that the autonomic fibers were undergoing some form of distal axonal degeneration. Their findings differ from most biopsies performed in dysautonomic children, and they believe their patient has a different neurologic entity.
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PMID:Case report: autonomic postganglionic denervation--sural nerve and saphenous vein biopsy. 158 Mar 23

One year before the close of the 19th century it was recognized that intestinal peristalsis was controlled by nerve plexuses in the wall of the gut independent of the central nervous system (CNS). This concept was developed further during the first quarter of the 20th century but was almost forgotten during the next 50 years until it was revived by the early 1970s. It is now recognized that the myenteric and submucous plexuses, referred to as the enteric nervous system (ENS), contain as many neurons as in the spinal cord. In addition to autonomy from the CNS, the ENS employs not only noradrenaline and acetylcholine but also serotonin (5-HT), ATP, peptides and nitric oxide as neurotransmitters, and controls gut movements, exocrine and endocrine secretions and the microcirculation, thus qualifying for being considered the brain of the gut. Reflexes involving the ENS may be entirely intrinsic such as that controlling peristalsis, between parts of the gut through prevertebral ganglia e.g. the enterogastric reflex, or between the gut and the CNS as examplified by the vago-vagal reflexes. Absent, defective or dysfunctional enteric neurons may result in achalasia, infantile hypertrophic pyloric stenosis, paralytic ileus, intestinal pseudo-obstruction, Hirschsprung's disease or idiopathic chronic constipation. Further, the ENS may be involved in the pathogenesis of secretory diarrhoea and inflammatory bowel disease. More research on the gut brain will deepen our understanding of the physiology and pathophysiology of the gastrointestinal tract.
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PMID:The brain of the gut. 1986 24