Abstract:
:Alcohol dependence (AD) has a large heritable component. Genetic variation in genes involved in the absorption and elimination of ethanol have been associated with AD. However, some of these polymorphisms are not present in an African population. Previous studies have reported that a type of AD which is characterized by anxious behaviour may be a genetically specific subtype of AD. We investigated whether variation in genes encoding cytochrome P450 2E1 (CYP2E1) or acetaldehyde-metabolising enzymes (ALDH1A1, ALDH2) might alter the risk of AD, with and without symptoms of anxiety, in a Cape population with mixed ancestry. Eighty case control pairs (one with AD, one without AD) were recruited and individually matched for potential confounders. Genotype data were available for 29 single-nucleotide polymorphisms (SNPs) across the three genes. Linkage disequilibrium D' values were evaluated for all pairwise comparisons. Allele and haplotype frequencies were compared between cases and controls using a χ2 test. The ACAG haplotype in block 4 of the ALDH1A1 gene provided evidence of an association with AD (p = 0.03) and weak evidence of an association with AD without symptoms of anxiety (p = 0.06). When a genetic score was constructed using SNPs showing nominal evidence of association with AD, every extra risk allele increased the odds of AD by 35% (OR 1.35, 95% CI 1.08, 1.68, p = 0.008) and the odds of having AD with anxiety symptoms increased by 53% (OR 1.53, 95% CI 1.14, 2.05, p = 0.004). Although our results are supported by previous studies in other populations, they must be interpreted with caution due to the small sample size and the potential influence of population stratification.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Crawford A,Dalvie S,Lewis S,King A,Liberzon I,Fein G,Koenen K,Ramesar R,Stein DJdoi
10.1007/s11011-014-9503-xsubject
Has Abstractpub_date
2014-06-01 00:00:00pages
333-40issue
2eissn
0885-7490issn
1573-7365journal_volume
29pub_type
杂志文章abstract::The central nervous system is one of the most vulnerable organs affected by mercury toxicity. Both acute and chronic exposure to mercury is also known to cause a variety of neurological or psychiatric disorders. Here, the neuroprotective effect of berberine (BN; 100 mg/kg bwt) on mercuric chloride (HgCl2; 0.4 mg/kg bw...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9652-6
更新日期:2015-08-01 00:00:00
abstract::Alzheimer's disease (AD) is a progressive neurodegenerative disorder, characterized by accumulation and deposition of Aβ peptide in human brain. The present study aimed to determine the protective effect of catechin rich extract of MERM (methanolic extract of Rhizophora mucronata) on Aβ (25-35) induced cognitive impai...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9831-0
更新日期:2016-08-01 00:00:00
abstract::Several epidemiological studies have shown that Diabetes Mellitus (DM) or Insulin Resistance (IR) increases the risk of dementia. Besides, some authors suggested that poor glucose control to be associated with worse cognitive function. We aimed to assess cognitive functions and IR-degree over time in diabetic. We also...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-9977-4
更新日期:2017-06-01 00:00:00
abstract::There is evidence to suggest that, in acute liver failure (ALF), brain ammonia and proinflammatory cytokines may act synergistically to cause brain edema and its complications (intracranial hypertension, brain herniation). However, the molecular mechanisms involved remain to be established. In order to address this is...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-010-9185-y
更新日期:2010-03-01 00:00:00
abstract::This study was performed to analyze the mutational spectrum of the phenylalanine hydroxylase (PAH) gene in phenylketonuria (PKU) patients in Northwest China, to identify mutational hot spots, and to determine the correlation between variants and clinical phenotypes of PKU. A large cohort of 475 PKU families in Northwe...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-0387-7
更新日期:2019-06-01 00:00:00
abstract::Pipecolic acid (PA) levels are increased in severe metabolic disorders of the central nervous system such as Zellweger syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy and hyperlysinemia. The affected individuals present progressive neurological dysfunction, hypotonia and growth retardation. The mecha...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9466-3
更新日期:2014-03-01 00:00:00
abstract::Susceptibility to Wilson's disease (WD) and its clinical manifestations are thought to be affected by genetic factors, including polymorphisms. The role of brain-derived neurotrophic factor (BDNF) in the pathogenesis of neurodegenerative diseases is now widely discussed. The aim of the present study was to evaluate th...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9399-x
更新日期:2013-09-01 00:00:00
abstract::Attention alterations are reported in cirrhotics. Aiming at clarifying attention functioning in cirrhotics, an inquiry on the functioning of the anterior (AAS) and the posterior (PAS) attention system was performed. Thirty-six cirrhotics without overt hepatic encephalopathy (24 with EEG or TMT-A alterations) and 16 ma...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-005-4149-3
更新日期:2005-06-01 00:00:00
abstract::In patients with hepatic encephalopathy (HE) the blood concentration of ammonia is usually highly elevated. Ammonia readily enters brain cells from the blood, and toxic effects of ammonia on brain metabolism and neurotransmission are believed to play a key role in the pathogenesis of HE. It has, however, been a matter...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-008-9126-1
更新日期:2009-03-01 00:00:00
abstract::The cholesterol-raising properties of the apolipoprotein E (APOE) epsilon-4 (ε-4) allele has been validated in the South African population. Mounting evidence supports the added value of APOE genotyping for the evaluation of cardiovascular risk in dyslipidemic patients beyond its established role in the diagnosis of l...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9737-2
更新日期:2016-02-01 00:00:00
abstract::Spontaneous intracerebral hemorrhage (ICH) represents a partially-understood cerebrovascular disease of high incidence, morbidity and mortality. We, herein, report the findings of our study concerning the role of two important adenosinetriphosphatases (ATPases) in a porcine model of spontaneous ICH that we have recent...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9380-8
更新日期:2013-09-01 00:00:00
abstract::Hepatic encephalopathy (HE) is a major complication of liver failure/disease which frequently develops during the progression of end-stage liver disease. This metabolic neuropsychiatric syndrome involves a spectrum of symptoms, including cognition impairment, attention deficits and motor dysfunction which eventually c...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-016-9843-9
更新日期:2016-12-01 00:00:00
abstract::The commonly used volatile anesthetic sevoflurane has been shown to induce widespread apoptosis in the developing brain, yet the underlying molecular mechanisms are not fully understood. Accumulating research has demonstrated that long noncoding RNAs (lncRNAs) regulate multiple biological processes, including neural d...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9838-6
更新日期:2016-10-01 00:00:00
abstract::Effects of sertraline, haloperidol or olanzapine administration on ketamine-induced behaviours in mice were examined. The aim was to ascertain the degree of reversal of such behaviours by sertraline, and compare its effectiveness to haloperidol and olanzapine. Ten-week old mice (N = 120) were equally divided into main...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0031-3
更新日期:2017-10-01 00:00:00
abstract:PURPOSE:To analyze brain metabolite changes in HIV-1-seropositive subjects in order to define whether the neuronal impairment is a localized or more diffuse process. MATERIALS AND METHODS:15 patients and 18 volunteers underwent multivoxel proton magnetic resonance (MR) spectroscopy at 1.5T. Nine patients were classifi...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1023/a:1020609213664
更新日期:1998-06-01 00:00:00
abstract::Undernourished suckling rats were administered, by gastric intubation, either soy oil (which is rich in both linoleic and linolenic acids) or safflower oil (which is rich in linoleic acid but deficient in linolenic acid) to determine (1) if dietary supplementation would offset the hypomyelination characteristic of the...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF00999385
更新日期:1986-06-01 00:00:00
abstract::Stroke is an increasingly prevalent clinical condition and second leading cause of death globally. The present study evaluated the therapeutic potential of Indian Ginseng, also known as Withania somnifera (WS), supplementation on middle cerebral artery occlusion (MCAO) induced mitochondrial dysfunctions in experimenta...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0234-2
更新日期:2018-08-01 00:00:00
abstract::Oral glutamine challenge is a method to increase blood ammonia and may be used to study the ammonia lowering effect of drugs potentially useful in hepatic encephalopathy (HE). We tested its influence on the psychometric performance of 18 cirrhotic patients without HE. Twelve nonencephalopatic cirrhotic patients were s...
journal_title:Metabolic brain disease
pub_type: 临床试验,杂志文章
doi:10.1023/a:1021926601907
更新日期:2003-03-01 00:00:00
abstract::The role of oxidative stress in the pathogenesis of phenylketonuria (PKU)-associated disorders has been implicated. Ischemia modified albumin (IMA) is a modified form of serum albumin, which is produced under the conditions of oxidative stress. The aim of this study was to measure the serum level of IMA in the PKU pat...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0165-3
更新日期:2018-06-01 00:00:00
abstract::We have described the occurrence in freely moving gerbils of slow potential changes (SPC) in two different models of experimental epilepsy: 1) maximal electroshock and 2) bilateral epileptic foci induced by penicillin. SPC is considered a by-product of epileptiform activity in both models and correlates to the SPC whi...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF01000149
更新日期:1992-06-01 00:00:00
abstract::Schizophrenia is known to be associated with metabolic disturbances including diabetes mellitus, obesity and cardiovascular diseases. A growing body of evidence has suggested abnormal cytokine levels in schizophrenia. In the present study, we explored the effects of low-grade chronic inflammation on behavioral stereot...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9630-4
更新日期:2015-06-01 00:00:00
abstract::Ischemic postconditioning (PostC) conventionally refers to a series of brief blood vessel occlusions and reperfusions, which can induce an endogenous neuroprotective effect and reduce cerebral ischemia/reperfusion (I/R) injury. Depending on the site of adaptive ischemic intervention, PostC can be classified as in situ...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-020-00562-x
更新日期:2021-01-01 00:00:00
abstract::A high co-morbidity between Alzheimer's disease (AD) and depression suggests there might be similar mechanisms underlying the course of these diseases. Previous studies have shown that p38MAPK plays a critical role in the pathophysiology of AD and depression. However, little is known about whether SB203580, a selectiv...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9880-4
更新日期:2017-02-01 00:00:00
abstract::Overwhelming evidence suggests that microglia play an important role in ischemic injury and they polarize into two different phenotypes with distinct functions after ischemic stroke. We performed the present study to investigate whether L-3-n butylphthalide (NBP) has an effect on microglial polarization. Mice were sub...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0307-2
更新日期:2018-12-01 00:00:00
abstract::A study evaluating zinc supplementation in patients with Alzheimer's disease yielded variable zinc plasma levels in spite of positive cognitive and physiological results. In an attempt to raise and sustain plasma zinc levels, a single patient was given 15 mg zinc/day with various combinations of vitamins. A sustained ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-006-9023-4
更新日期:2006-09-01 00:00:00
abstract::Today, neurological disorders such as epilepsy, depression, tardive dyskinesia, and stress, and neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease, dementia, and Huntington's disease affect millions of people all over the world. Existing pharmacological interventions do not meet the desired t...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-019-00400-9
更新日期:2019-08-01 00:00:00
abstract::In the brain hyperammonemia interferes with ion homeostasis, membrane potentials, neurotransmission, and neurotransmitter recycling and reduces metabolic rates for oxygen and glucose. Because, cerebral blood flow (CBF) is closely coupled to metabolism, CBF is most often reduced in diseases associated with hyperammonem...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1023/a:1021941414605
更新日期:2002-12-01 00:00:00
abstract::Parkinson's disease is a neurodegenerative disease whose hallmark pathological features include a selective loss of dopaminergic neurons in the midbrain. Ciclooxygenase-2 activity induction and oxidative stress have been implicated in the aetiology of Parkinson's disease and in the 1-methyl-4-phenyl-1,2,3,6-tetrahydro...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9416-0
更新日期:2013-12-01 00:00:00
abstract::This study aimed to examine the neuroprotective effects of Nigella sativa (N. sativa) in the hippocampus of propylthiouracil (PTU)-induced hypothyroid rats during neonatal and juvenile growth. Twenty- five pregnant rats from early gestation (GD 0) were divided into five groups: (1) control (received drinking water), (...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0025-1
更新日期:2017-10-01 00:00:00
abstract::In the normal adult brain, glucose provides 90% of the energy requirements as well as substrate for nucleic acid and lipid synthesis. In the present study, effects of ethanol on glucose transporters (GLUT) and glucose utilization were examined in rat brain. Male Sprague-Dawley rats weighing 250-300 gms were given eith...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF02674530
更新日期:2000-09-01 00:00:00