Abstract:
:Autism (MIM 209850) is a heterogeneous neurodevelopmental disease that manifests within the first 3 years of life. Numerous articles reported that dysfunctional folate-methionine pathway enzymes may play an important role in the pathophysiology of autism. Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of this pathway and MTHFR C677T polymorphism reported as risk factor for autism in several case control studies. However, controversial reports were also published. Hence the present meta-analysis was designed to investigate the relationship of the MTHFR C677T polymorphism with the risk of autism. Electronic databases were searched for case control studies with following search terms - 'MTHFR', 'C677T', in combination with 'Autism'. Pooled OR with its corresponding 95 % CI was calculated and used as association measure to investigate the association between MTHFR C677T polymorphism and risk of autism. Total of thirteen studies were found suitable for the inclusion in the present meta-analysis, which comprises 1978 cases and 7257 controls. Meta-analysis using all four genetic models showed significant association between C677T polymorphism and autism (ORTvs.C = 1.48; 95 % CI: 1.18-1.86; P = 0.0007; ORTT + CT vs. CC = 1.70, 95 % CI = 0.96-2.9, p = 0.05; ORTT vs. CC = 1.84, 95 % CI = 1.12-3.02, p = 0.02; ORCT vs.CC = 1.60, 95 % CI = 1.2-2.1, p = 0.003; ORTT vs.CT+CC = 1.5, 95 % CI = 1.02-2.2, p = 0.03). In total 13 studies, 9 studies were from Caucasian population and 4 studies were from Asian population. The association between C677T polymorphism and autism was significant in Caucasian (ORTvs.C = 1.43; 95 % CI = 1.1-1.87; p = 0.009) and Asian population (ORTvs.C = 1.68; 95 % CI = 1.02-2.77; p = 0.04) using allele contrast model. In conclusion, present meta-analysis strongly suggested a significant association of the MTHFR C677T polymorphism with autism.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Rai Vdoi
10.1007/s11011-016-9815-0subject
Has Abstractpub_date
2016-08-01 00:00:00pages
727-35issue
4eissn
0885-7490issn
1573-7365pii
10.1007/s11011-016-9815-0journal_volume
31pub_type
杂志文章,meta分析,评审abstract::Hepatic encephalopathy (HE) is an important cause of morbidity and mortality in patients with severe liver disease. Although the mechanisms responsible for HE remain elusive, ammonia is generally considered to be involved in its pathogenesis, and astrocytes are thought to be the principal target of ammonia neurotoxici...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1023/a:1023858902184
更新日期:2003-06-01 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::Mild hypothermia (32 degrees C-35 degrees C) reduces intracranial pressure in patients with acute liver failure and may offer an effective adjunct therapy in the management of these patients. Studies in experimental animals suggest that this beneficial effect of hypothermia is the result of a decrease in blood-brain a...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1023/a:1021982523691
更新日期:2002-12-01 00:00:00
abstract::Cerebral inflammation plays a role in diseases such as multiple sclerosis (MS), Alzheimer's disease (AD), and depression. Iron is involved in infection and inflammation through free radical production. Theoretically transferrin should prohibit iron from participating in oxidative reactions, but transferrin has also be...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1023/b:mebr.0000027421.33085.8b
更新日期:2004-06-01 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::In view of the protective effect of brain derived neurotrophic factor (BDNF) against metabolic/excitotoxic insults in vitro, we investigated whether BDNF could limit infarct size after permanent occlusion of the middle cerebral artery in rat (MCAO). BDNF was delivered into the territory of the middle cerebral artery v...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF02674671
更新日期:1997-12-01 00:00:00
abstract::Sleep disturbances are prevalent among patients with Alzheimer's disease (AD) and often precede the onset and progression of dementia. However, there are no reliable animal models for investigating sleep disturbances in patients with sporadic AD (sAD), which accounts for more than 90% of all AD cases. In the present s...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0125-y
更新日期:2018-02-01 00:00:00
abstract::The regional energy status and the availability of metabolic substrates during brain development are important, since a variety of fetal metabolic insults have been increasingly implicated in the evolution of neonatal brain disorders. The response of the brain to a metabolic insult is determined, in large part, by the...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1023/a:1025503115837
更新日期:2003-09-01 00:00:00
abstract::Hepatic encephalopathy (HE) is an important cause of morbidity and mortality in patients with severe liver disease. Although the molecular basis for the neurological disorder in HE remains elusive, elevated ammonia and its chief metabolite glutamine are believed to be important factors responsible for altered cerebral...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1023/a:1011666612822
更新日期:2001-06-01 00:00:00
abstract::Hypoxic-ischemia (HI) is a widely used animal model to mimic the preterm or perinatal sublethal hypoxia, including hypoxic-ischemic encephalopathy. It causes diffuse neurodegeneration in the brain and results in mental retardation, hyperactivity, cerebral palsy, epilepsy and neuroendocrine disturbances. Herein, we exa...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9816-z
更新日期:2016-08-01 00:00:00
abstract::D-Galactose (D-gal) chronic administration via intraperitoneal and subcutaneous routes has been used as a model of aging and Alzheimer disease in rodents. Intraperitoneal and subcutaneous administration of D-gal causes memory impairments, a reduction in the neurogenesis of adult mice, an increase in the levels of the ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-9972-9
更新日期:2017-06-01 00:00:00
abstract::Despite many clinical trials assessing the role of zinc in major depressive disorder (MDD), the conclusions still remain ambiguous. The aim of the present clinical study was to determine and comparison the zinc concentration in the blood of MDD patients (active stage or remission) and healthy volunteers (controls), as...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9888-9
更新日期:2017-02-01 00:00:00
abstract::Methamphetamine (METH) is a highly addictive psycho-stimulant that induces behavioral changes due to high level of METH-induced dopamine in the brain. Nucleus accumbens (NAc) plays an important role in these changes, especially in drug addiction. However, little is known about the underlying molecular mechanisms of ME...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0061-x
更新日期:2017-12-01 00:00:00
abstract::Increasing evidence indicates that excessive drug consumption is sufficient for the transition from recreational and controlled drug use to uncontrolled use and addiction. However, the underlying mechanisms are debated. Some neurobehavioral and neuroimaging evidence indicates that dorsolateral striatum (dlStr)-depende...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-00430-3
更新日期:2019-08-01 00:00:00
abstract::D-galactose (GAL) causes aging-related changes and oxidative stress in the organism. We investigated the effect of whole fresh blueberry (BB) (Vaccinium corymbosum L.) treatment on oxidative stress in age-related brain damage model. Rats received GAL (300 mg/kg; s.c.; 5 days per week) alone or together with 5 % (BB1) ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9643-z
更新日期:2015-06-01 00:00:00
abstract::The free radical scavenging abilities of the structurally related steroids beta-sitosterol, beta-sitosterol glucoside (plant sterols and sterolins), cholesterol, and dehydroepiandrosterone sulphate (DHEAS) were compared with melatonin (an efficient free radical scavenger) in an in vitro system which measures lipid per...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1023/a:1011167023695
更新日期:2000-12-01 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 original article contains mistake. The authors want to add Wenhui Pei as first co-author and Fang Fang as co-corresponding author. ...
journal_title:Metabolic brain disease
pub_type: 已发布勘误
doi:10.1007/s11011-020-00612-4
更新日期:2020-12-01 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::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::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::Hepatic encephalopathy (HE) is a neuropsychiatric syndrome which develops in patients with severe liver diseases and/or portal-systemic shunting. Minimal HE, the earliest manifestation of HE, has drawn increasing attention in the last decade. Minimal HE is associated with a series of brain functional changes, such as ...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9504-9
更新日期:2014-09-01 00:00:00
abstract:UNLABELLED:Some subjects with multiple sclerosis (MS) present with low blood iron parameters. Anecdotal reports and a single patient study suggest that iron supplementation may be beneficial in these subjects. Myelin is regenerated continually, but prerequisites for this process are iron and a functional folate-vitamin...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-006-9019-0
更新日期:2006-09-01 00:00:00
abstract::Neuroinflammation has been recognized as a major contributor to brain injury caused by intracerebral hemorrhage (ICH). Nucleotide-binding oligomerization domain-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome acts as an important mediator of inflammatory response in various inflammation-related dis...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0003-7
更新日期:2017-08-01 00:00:00
abstract::Schizophrenia is one of the most disabling mental disorders that affects up to 1 % of the population worldwide. Although the causes of this disorder remain unknown, it has been extensively characterized by a broad range of emotional, ideational and cognitive impairments. Studies indicate that schizophrenia affects neu...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9417-z
更新日期:2013-09-01 00:00:00
abstract::High plasma levels of methionine (Met) and its metabolites such as methionine sulfoxide (MetO) may occur in several genetic abnormalities. Patients with hypermethioninemia can present neurological dysfunction; however, the neurotoxicity mechanisms induced by these amino acids remain unknown. The aim of the present wor...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0054-9
更新日期:2017-10-01 00:00:00
abstract::Relation between soya bean (SB) consumption and aggressive behavior has not been elucidated yet. Thus, this study was conducted to investigate the effect of large amount of SB consumption on adult male rats' aggressive behavior through investigating changes in the expression of gonadotropin-inhibitory hormone/ RF amid...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-00431-2
更新日期:2019-08-01 00:00:00
abstract::Thyroid hormone insufficiency during neurodevelopment can result into significant structural and functional changes within the developing central nervous system (CNS), and is associated with the establishment of serious cognitive impairment and neuropsychiatric symptomatology. The aim of the present study was to shed ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9581-9
更新日期:2015-02-01 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: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