Abstract:
:Schizophrenia (SCZ) and bipolar disorder (BD) are severe psychiatric disorders that share many genetic risk factors. This study aimed to investigate the association of phosphoinositide-3-kinase regulatory subunit1 (PIK3R1) gene rs3756668 and rs3730089 polymorphisms with SCZ and BD risks and determine the expression levels of PIK3R1. A total of 548 SCZ cases, 512 BD cases, and 598 healthy controls were included in this study. Single nucleotide polymorphisms (SNPs) were genotyped using the Sequenom MassARRAY platform, and quantitative reverse transcription polymerase chain reaction was conducted to examine the mRNA expression of PIK3R1. The genotypic distribution of rs3756668 in the BD group was significantly different from that in the healthy controls (P = 0.038). After adjustment for gender and age was made, rs3730089 was significantly associated with the risk of SCZ [AA/(AG + GG): OR = 2.25, Padj = 0.040; AA/GG: OR = 2.27, Padj = 0.038]. The SNP rs3756668 was associated with the susceptibility of BD (AA+GG/AG: OR = 0.73, P = 0.011) and the association remained after adjusting for gender and age. The mRNA level of PIK3R1 was significantly upregulated in patients with BD compared with that in the control group (P < 0.001). In terms of the diagnostic value of PIK3R1 for BD, the receiver operating characteristic curve analysis showed an area under the curve of 0.809 with 74.0% sensitivity and 73.9% specificity. PIK3R1 may be the shared susceptibility gene of SCZ and BD and may be a potential diagnostic biomarker for BD.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Huang J,Chen Z,Zhu L,Wu X,Guo X,Yang J,Long J,Su Ldoi
10.1007/s11011-020-00552-zsubject
Has Abstractpub_date
2020-06-01 00:00:00pages
785-792issue
5eissn
0885-7490issn
1573-7365pii
10.1007/s11011-020-00552-zjournal_volume
35pub_type
杂志文章abstract::The enzyme nitric oxide synthase has been associated with suicide behavior. NOS1, NOS2 and NOS3 genes are implicated in the production of nitric oxide. However, the association between NOS genes and suicide behavior has not yet been established. To assess the association of Nitric Oxide Synthase (NOS) genes and suicid...
journal_title:Metabolic brain disease
pub_type: 杂志文章,meta分析
doi:10.1007/s11011-019-00406-3
更新日期:2019-08-01 00:00:00
abstract::Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin. Citrin deficiency causes not only CTLN2 but also neonatal intrahepa...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1023/a:1021961919148
更新日期:2002-12-01 00:00:00
abstract::The aim of the present work was to investigate the role of ondansetron on the high fat diet (HFD) induced obese mice for behavioral and biochemical alterations using chronic unpredictable mild stress (CUMS) model of depression. Animals were fed with high fat diet for 14 weeks and subjected to different stress procedur...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9574-8
更新日期:2014-09-01 00:00:00
abstract::Increased benzodiazepine (BZ) receptor density has been reported in brains of rabbits with hepatic encephalopathy (HE) due to galactosamine (GalN)-induced fulminant hepatic failure (FHF). These data were generated using detergent-Triton X-100-treated neural membranes. While performing further studies it was noted that...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF01000296
更新日期:1989-09-01 00:00:00
abstract::Stroke is devastating and a leading cause of morbidity and mortality worldwide. Cerebral ischemia-reperfusion and its subsequent reactive hyperemia lead to neuronal damage in the hippocampus and cognitive decline. Chrysin (5, 7-dihydroxyflavone) is a well-known member of the flavonoid family with antioxidant and neuro...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-00527-9
更新日期:2020-02-01 00:00:00
abstract::Oxidative stress is strongly implicated in the pathogenesis of stroke. Strategies using antioxidants to improve neurological functions after stroke have, thus, gained significant attention. Ocimum basilicum L. is used traditionally to treat CNS disorders. Its antioxidant capacity is well established. Our laboratory ha...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0215-5
更新日期:2018-08-01 00:00:00
abstract::Despite the existence of many preclinical studies, scientific evidence is lacking on the clinical use of alpha-lipoic acid (ALA) for central nervous system disorders. Therefore, we aimed at revising the literature concerning the use of ALA for the treatment of psychiatric and neurological conditions and to point out w...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0344-x
更新日期:2019-02-01 00:00:00
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 ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9503-x
更新日期:2014-06-01 00:00:00
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journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0310-7
更新日期:2018-12-01 00:00:00
abstract::Iron is an important micronutrient for neuronal function and survival. It plays an essential role in DNA and protein synthesis, neurotransmission and electron transport chain due to its dual redox states. On the contrary, iron also catalyses the production of free radicals and hence, causes oxidative stress. Therefore...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9522-7
更新日期:2014-09-01 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::In Alzheimer's disease (AD) basal forebrain cholinergic neurons appear to be targeted primarily in early stages of the disease. Scopolamine (muscarinic receptor antagonist) has been used for decades to induce working and reference memory impairment in rodents. In this study, we evaluated the protective effect of kolav...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9902-2
更新日期:2017-02-01 00:00:00
abstract::Acute and chronic administration of Al-gluconate (12.7% Al) at the concentration of 1 mg/kg produces edema in the rat brain, as reflected by the increase in water and Na+ content. The permeability for Evans blue is also increased, which indicates the opening of the blood-brain barrier. Higher concentrations of the Al-...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF00996974
更新日期:1990-03-01 00:00:00
abstract::The current study evaluated the protective and therapeutic potency of bee pollen in ameliorating the toxic effects of methylmercury (MeHg), by measuring certain biochemical parameters related to neurotransmission, neuroinflammation, apoptosis, and glutamate excitotoxicity in the male neonate brain. Healthy, pregnant f...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-00496-z
更新日期:2020-01-01 00:00:00
abstract::3-Nitropropionic acid (3-NPA) is a toxin sometimes produced on moldy crops (sugarcane, peanuts, etc.) in amounts sufficient to cause severe neurological disorders when consumed by humans. In vitro, 3-NPA irreversibly inactivates SDH, a Complex II respiratory enzyme required for mitochondrial energy production. A singl...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1023/a:1020753629477
更新日期:1999-06-01 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::Hepatic encephalopathy (HE) is a neuropsychiatric syndrome which frequently accompanies acute or chronic liver disease. It is characterized by a variety of symptoms of different severity such as cognitive deficits and impaired motor functions. Currently, HE is seen as a consequence of a low grade cerebral oedema assoc...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-016-9906-y
更新日期:2016-12-01 00:00:00
abstract::Sevoflurane, one of the most commonly used volatile anesthetics in clinical treatment, has been shown to induce a widespread increase in brain apoptosis. However, the underlying mechanism is still unknown. Sestrin 2 has been recently shown to regulate intracellular reactive oxygen species (ROS) levels and play a cruci...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9673-1
更新日期:2015-10-01 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::As studies of brain metabolism grow in complexity, investigators turn increasingly to nuclear magnetic resonance spectroscopy combined with 13C isotopic labeling. The unique ability to detect labeling non-destructively in specific carbon positions of individual compounds has opened the way to investigate brain metabol...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/BF02029492
更新日期:1996-12-01 00:00:00
abstract::Hyperammonemia is necessary for development of the cerebral complications to liver disease including hepatic encephalopathy and cerebral edema but the mechanisms are unclear. Ammonia is taken up by the brain in proportion to its arterial concentration. The flux into the brain is most likely by both diffusion of NH3 an...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9494-7
更新日期:2014-12-01 00:00:00
abstract::Mitochondrial glutathione (mGSH) is a critical factor in the cell defense against oxidative and nitrosative stress (ONS), and ONS is a key pathogenic event in hepatic encephalopathy (HE). Acute HE in the thioacetamide (TAA) model caused a 54 % decrease of mGSH content in the rat prefrontal cortex (pfc), but not in the...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-012-9342-6
更新日期:2013-03-01 00:00:00
abstract::In the original publication of the article, author name Masoumeh Asadbegi was incorrectly written as Masoumeh Asadbeigi. The authors regret the oversight. ...
journal_title:Metabolic brain disease
pub_type: 杂志文章,已发布勘误
doi:10.1007/s11011-017-0114-1
更新日期:2017-12-01 00:00:00
abstract::In the current era, plants are frequently tested for its antidepressant potential. Therefore young coconut water, a commonly used plant based beverage, was selected to explore its antidepressant potential. Rodents were selected for this study and forced swim test was conducted to explore antidepressant activity. Analy...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9866-2
更新日期:2016-10-01 00:00:00
abstract::Isolated Methylmalonic acidemia/aciduria (MMA) is a group of inborn errors of metabolism disease which is caused by defect in methylmalonyl-CoA mutase (MCM) enzyme. The enzyme has a key function in the catabolism of branched chain amino acids (BCAA, isoleucine, and valine), methionine, and threonine. MCM is encoded by...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0277-4
更新日期:2018-10-01 00:00:00
abstract::There is abundant evidence showing that repeated use of MDMA (3, 4-Methylenedioxymethamphetamine, ecstasy) has been associated with depression, anxiety and deficits in learning and memory, suggesting detrimental effects on hippocampus. Adenosine is an endogenous purine nucleoside that has a neuromodulatory role in the...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-012-9334-6
更新日期:2012-12-01 00:00:00
abstract::Mutations in the HTT gene, consisting of expansion of CAG triplets, cause the Huntington's disease (HD), one of the major neurodegenerative disorders. Formation of aggregates of mutant huntingtin (mHTT, the product of the mutant HTT gene) leads to cellular dysfunctions, and subsequent neurodegeneration which manifest ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-00405-4
更新日期:2019-06-01 00:00:00
abstract::Alzheimer's Disease (AD) is a complex neurodegenerative disorder often associated with aging and characterized by several critical molecular changes that take place in the brain. Among the molecular hallmarks of AD, increased levels of amyloid β-peptide (Aβ) and the subsequent Aβ-derived damage are the most well-studi...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9527-2
更新日期:2014-09-01 00:00:00
abstract::The effects of chronic and repeated radiofrequency electromagnetic radiation (RFEMR) exposure on spatial cognition and hippocampal architecture were investigated in prepubescent rats. Four weeks old male Wistar rats were exposed to RF-EMR (900 MHz; SAR-1.15 W/kg with peak power density of 146.60 μW/cm(2)) for 1 h/day,...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9689-6
更新日期:2015-10-01 00:00:00
abstract::Current data on the neurotrophic effects of steroid hormones suggest that, in brain and spinal cord regions containing receptor systems, steroids act at the level of RNA and protein synthesis to effect metabolic changes associated with nerve-cell survival, elaboration/maintenance of dendritic and axonal processes, syn...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/BF01001350
更新日期:1988-03-01 00:00:00