Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The etiology of the Rett syndrome (RS) is unknown. Reduced function of biogenic amines has been described. Symptoms of central apnea, hyperventilation, hypothermia, peripheral analgesia, muscle rigidity, myoclonic jerks, hand stereotypy and seizures occur in RS and have been suggested as a result of elevated central beta-endorphins. It was hypothesized that a dysfunctional modulation of endogenous opiate systems and biogenic amines may be present. Cerebrospinal fluid (CSF) from 12 girls with RS was studied for beta-endorphin immunoreactivity, and biogenic amines. Lactates and pyruvate levels were measured. Eleven of the 12 girls had elevated beta-endorphin immunoreactivity in CSF, 4 girls had reduced biogenic amines and 6 girls had elevated pyruvate and lactate levels. Whether the elevated beta-endorphin immunoreactivity is a primary disorder or is a result of secondary feedback mechanisms is unknown. Naltrexone, an antiopioid drug, may reduce symptoms.
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PMID:Cerebrospinal fluid studies in the Rett syndrome: biogenic amines and beta-endorphins. 169 44

An evaluation of cerebrospinal fluid and plasma beta-endorphin and cortisol levels was performed in 15 girls affected with classic Rett syndrome. There were no differences between the patient group and the control group in plasma cortisol and beta-endorphin levels. But in Rett syndrome, a significant increase in beta-endorphin was noted in the cerebrospinal fluid, with an elevation of the cerebrospinal fluid/plasma beta-endorphin ratio and a decrease in cerebrospinal fluid cortisol. A substantial overlap between patients and control group diminishes the diagnostic value of cerebrospinal fluid beta-endorphin assay in girls suspected of having Rett syndrome.
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PMID:Cerebrospinal fluid beta-endorphin and cortisol study in Rett syndrome. 187 29

An hypothesis of increased endorphinergic activity has been proposed to account for the characteristic symptoms of Rett syndrome. Cerebrospinal fluid samples from eight girls with Rett syndrome were analysed for beta-endorphin (beta-EP) immunoactivity and compared with samples from a control group of 15 children with acute leukaemia in remission. Severity of symptoms was not found to be related to beta-EP level. A group of early-treated adolescents with phenylketonuria had beta-EP levels similar to the Rett syndrome patients, but no symptoms resembling theirs. Therefore it is unlikely that increased levels of beta-EP are of primary pathogenetic significance. The conflicting findings of many earlier reports may be a result of differences between control groups.
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PMID:Cerebrospinal fluid beta-endorphin in Rett syndrome. 206 27

Thirty-one children with autistic disorder, 8 with the Rett syndrome (RS), 2 with childhood disintegrative disorder and 5 with infantile spasms were compared with healthy adult controls with respect to cerebrospinal fluid (CSF) beta-endorphin levels. The autistic disorder and RS groups showed significantly lower values than the other groups. There were no age trends within the various groups. Further study of CSF beta-endorphins in these disorders and blindly examined age matched controls is warranted.
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PMID:CSF beta-endorphins in childhood neuropsychiatric disorders. 234 33

Twelve typical cases of the Rett syndrome and one forme fruste were treated with bromocriptine for six months and then had a washout for two months followed by resumption of the bromocriptine treatment. During the first bromocriptine treatment there were improvements in communication and relaxation in some of the girls: a more regular sleep pattern was observed in 4 and a more varied facial expression in 8, and 4 girls began to utter a few words. The bouts of hyperpnea disappeared in 5 and grinding of the teeth in 3. There was also a reduction in stereotypic hand activities in 5 girls and signs of improved motor abilities in 3. The washout caused a general decrease in the positive effects of the previously administered bromocriptine and resumption of the treatment with this drug led to less marked improvement. Metoclopramide was tested in all the girls before the treatment, and it was noted that, while endorphins were hyporesponsive, prolactin was hyperresponsive. This test was repeated two months after the bromocriptine treatment had been performed and, while beta-lipotropin remained unchanged, beta-endorphin showed increased responsiveness.
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PMID:Bromocriptine in the Rett syndrome. 236 Jul 1

The Rett syndrome is a postnatal developmental and neurological disorder seen only in girls. Many of the symptoms of this disorder, such as microcephaly, stereotypy, respiratory disturbances and seizures, are analogous to the effects of the administration of beta-endorphin or other opioids in animals. Preliminary reports of elevated beta-endorphin-like immunoreactivity in the cerebrospinal fluid of girls with the Rett syndrome, as well as improvement in some of their symptoms during the administration of the opioid antagonist naltrexone, are suggestive of endorphinergic hyperactivity. Thus, the pathophysiology of the Rett syndrome might involve excessive stimulation of opioid receptors in the central nervous system by beta-endorphin or other endogenous opioids.
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PMID:Possible hyperendorphinergic pathophysiology of the Rett syndrome. 247 33

Plasma levels of beta-endorphin (beta-EP) and prolactin (PRL) were measured in 5 girls with Rett syndrome and in a control group before and after giving 10 mg metoclopramide i.v. beta-lipotropin (beta-LPH) was only measured in basal conditions. Basal values of beta-EP and beta-LPH were lower than in control individuals. The responses of plasma beta-EP to metoclopramide in Rett syndrome patients were less intense than in control individuals, while the PRL increase in girls with Rett syndrome was significantly higher than in control subjects. These preliminary data suggest a derangement of the dopaminergic system.
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PMID:Plasma endorphins in Rett syndrome: preliminary data. 294 Aug 63

To investigate pediatric brain impairment, beta-endorphin levels, one of the opioid peptides that modulate human high cortical functions, were measured in cerebrospinal fluid (CSF). The study included 19 patients with infantile autism, 3 patients with Rett syndrome, 6 patients with infantile spasms, 16 patients with aseptic meningitis, and 23 age-matched controls. In the control group, the CSF beta-endorphin concentrations were negatively correlated with increasing age. There was no correlation between body temperature and the levels, and no significant difference in the levels according to sex. In infantile autism, the CSF level was not significantly different from that in controls. In Rett syndrome, it was significantly higher, while in infantile spasms it was lower than in controls. In aseptic meningitis, the CSF beta-endorphin level was significantly higher than in controls. The alterations in CSF beta-endorphin levels may play a role in these neurologic disorders and/or in central nervous system (CNS) infections.
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PMID:CSF beta-endorphin levels in pediatric neurologic disorders. 800 32

We measured CSF levels of beta-endorphin, an opioid hormone, in 19 patients with infantile autism and in 3 patients with Rett syndrome, and compared them with control values. In infantile autism, CSF levels of beta-endorphin did not differ significantly from those of age-matched controls. There was no significant correlation between CSF levels and clinical symptoms, including self-injurious behavior, pain insensitivity, and stereotyped movement. However, CSF levels of beta-endorphin were significantly higher in the patients with Rett syndrome than in the control (p < .05). Data suggest that neurons containing beta-endorphin may not be involved in patients with infantile autism. Thus, there is no relationship between dysfunction of brain opioid and autism.
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PMID:CSF beta-endorphin levels in patients with infantile autism. 910 66

Rett syndrome (RS) is a progressive disorder that is predominant in females. It is associated with cortical atrophy, stereotyped hand movements mimicking hand-washing, severe mental deficiency, and cortical and extrapyramidal dysfunction. The cause of RS is unknown; no consistent genetic abnormalities, at either the cellular or mitochondrial levels, have been identified. The diagnosis still depends solely upon clinical evidence. The clinical progression of RS is consistent with an arrested neuronal development that may be due to either impaired cellular differentiation or the lack of appropriate trophic factors. Neuropathological studies have confirmed (1) a generalized brain atrophy involving the cerebrum and cerebellum; (2) a decrease in neuronal cell size and increased cell packing density throughout the brain; (3) a reduction in the number of basal forebrain cholinergic neurons; (4) a reduction in the concentration of melanin-containing neurons in the substantia nigra. Biochemical studies have identified (1) a decrease in cholinergic markers in the neocortex, hippocampus, thalamus and basal ganglia; (2) inconsistent and variable changes in biogenic amine biomarkers in post-mortem tissues and cerebrospinal fluid (CSF); (3) an elevation of beta-endorphin levels in the thalamus and glutamate levels in the CSF; (4) no evidence for mitochondrial dysfunction. These data suggest that there is a primary deficit in cholinergic function that might underlie some of the higher cognitive impairments and extrapyramidal dysfunction. Overall, the clinical, biochemical and neuropathological data suggest that RS is a neurodevelopmental disorder that has its greatest effects upon a limited number of neural systems during the first few years of postnatal life.
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PMID:Rett syndrome: neurobiological changes underlying specific symptoms. 910 98


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