Abstract:
:Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with impairments in social communication, restricted, repetitive and stereotyped behaviors. Both genetic and environmental factors are known to contribute toward pathophysiology of Autism. Environmental influences on gene expression can be mediated by methylation patterns which are established and maintained by DNA methyltransferases. Several studies in the past have investigated the role of global methylations in Autism. The present study is aimed to investigate the role of genetic variations in the DNA methyltransferase which might be critical in defining the threshold for environmental factors toward susceptibility to autism. Polymorphisms in DNA methyltransferases, DNMT1, DNMT3A, DNMT3B, and DNMT3L were screened for association with ASD in 180 autistic patients and 260 healthy controls from a south Indian population. DNMT1 rs10418707 and rs10423341, and DNMT3A rs2289195 were found to be significantly associated at genotypic and allelic level with ASD. Functional prediction indicates that these SNPs have a role in transcriptional regulation and increased expression, indicating that hypermethylation might be induced by its genotype status. The study might reflect the role of genetics variants in DNMTs in defining the threshold of environmental impact in influencing the disease or phenotype variations in ASD. © 2019 IUBMB Life, 2019.
journal_name
IUBMB Lifejournal_title
IUBMB lifeauthors
Alex AM,Saradalekshmi KR,Shilen N,Suresh PA,Banerjee Mdoi
10.1002/iub.2021subject
Has Abstractpub_date
2019-07-01 00:00:00pages
901-907issue
7eissn
1521-6543issn
1521-6551journal_volume
71pub_type
杂志文章相关文献
IUBMB LIFE文献大全abstract::Our results demonstrate that open reading frame (ORF) YHR076w on chromosome VIII of Saccharomyces cerevisiae that was previously described as a hypothetical gene is expressed. This ORF is transcribed as an mRNA of approximately 1,100 nucleotides. A 41.2-kDa polypeptide and three others predicted to be modified forms o...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1080/713803741
更新日期:2000-12-01 00:00:00
abstract::How should a protein be designed to serve in processes as diverse as chromosome condensation, sister chromatid cohesion, DNA recombination, gene dosage regulation, and perhaps even gene silencing or transcriptional regulation--which occur in both mitosis and meiosis? Such a protein or protein complex needs to bear DNA...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1080/15216540310001639661
更新日期:2003-12-01 00:00:00
abstract::Since about 60 years a phenomenon now called permeability transition is known in mitochondria. It involves a large pore in the inner mitochondrial membrane, the permeability transition pore (PTP) whose molecular structure is still unknown. Year after year, new hypotheses have been developed how this pore could look li...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.1130
更新日期:2013-03-01 00:00:00
abstract::The mitochondrial ATP-Mg/Pi carrier is responsible for the calcium-dependent regulation of adenosine nucleotide concentrations in the mitochondrial matrix, which allows mitochondria to respond to changing energy requirements of the cell. The carrier is expressed in mitochondria of fungi, plants and animals and belongs...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.1931
更新日期:2018-12-01 00:00:00
abstract::Anthracyclines are a class of antitumor drugs widely used for the treatment of a variety of malignancy, including leukemias, lymphomas, sarcomas, and carcinomas. Different mechanisms have been proposed for anthracycline antitumor effects including free-radical generation, DNA intercalation/binding, activation of signa...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1080/15216540252774829
更新日期:2001-07-01 00:00:00
abstract::Bladder carcinoma is an important worldwide health problem. Both cystoscopy and urine cytology used in detecting bladder cancer suffer from drawbacks where cystoscopy is an invasive method and urine cytology shows low sensitivity in low-grade tumors. This study validates easier and less time-consuming techniques for t...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.325
更新日期:2010-05-01 00:00:00
abstract::It is known that that human serum albumin (HSA) and alpha-lactalbumin (LA) possess DNA-binding sites. Electrophoretically homogeneous HSA and LA containing no canonical enzymes were isolated from human sera and milk. Here we have analyzed for the first time the possibility of DNA hydrolysis by these proteins. It was s...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.1741
更新日期:2018-06-01 00:00:00
abstract::Modern cell-free in vitro protein synthesis systems present powerful tools for the synthesis of isotope-labeled proteins in high yields. The production of selectively 15 N-labeled proteins from 15 N-labeled amino acids is particularly economic and yields are often sufficient to analyze the proteins very quickly by two...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1080/15216540500217859
更新日期:2005-09-01 00:00:00
abstract::Methionine (Met) is a neutral, sulfur-containing, essential amino acid with biological functions in the initiation and prolongation step of protein synthesis, transmethylation reactions, the synthesis of cysteine and cystine, and as a component of antioxidant systems. Its key importance is reflected by the fact that i...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.1571
更新日期:2016-12-01 00:00:00
abstract::Transfer RNAs require essential maturation steps to become functional. Among them, RNase P removes 5' leader sequences of pre-tRNAs. Although RNase P was long thought to occur universally as ribonucleoproteins, different types of protein-only RNase P enzymes were discovered in both eukaryotes and prokaryotes. Interest...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.2062
更新日期:2019-08-01 00:00:00
abstract::The formation, maturation, and dissolution of focal adhesions are basic prerequisites of cell migration and rely on the recruitment, signalling, and endocytosis of integrins. In many instances, extracellular matrix molecules are recognised by a number of integrins, and it is the sequential involvement of different int...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.200
更新日期:2009-07-01 00:00:00
abstract::The effect of streptozotocin-induced diabetes on cholinesterases activities was studied in the retina and, for comparison, in other nervous and nonnervous tissues. Streptozotocin diabetes did not affect acetylcholinesterase activity in the retina but increased its activity in the cerebral cortex (100%) and in serum (5...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1080/15216540050033140
更新日期:2000-04-01 00:00:00
abstract::Uncoupling proteins (UCPs) are regulated H+ transporters and a subfamily of the mitochondrial carrier family. Whereas UCP1 in brown adipose tissue has a well-defined role in thermogenesis, the roles of other UCPs are still tentative, such as in control of immune response, oxygen radical formation, and insulin secretio...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1080/15216540152845975
更新日期:2001-09-01 00:00:00
abstract::The members of the GATA family of transcription factors have homologous zinc fingers and bind to similar sequence motifs. Recent advances in genome-wide technologies and the integration of bioinformatics data have led to a better understanding of how GATA factors regulate gene expression; GATA-factor-induced transcrip...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.2169
更新日期:2020-01-01 00:00:00
abstract::The sodA gene coding for manganese superoxide dismutase (Mn-SOD) from the marine microorganism Vibrio parahaemolyticus was cloned, sequenced, and overexpressed in Escherichia coli by use of the pET20b (+) expression vector. The full-length gene consisted of a 588-bp open reading frame and encoded a polypeptide of 196 ...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1080/713803521
更新日期:1999-09-01 00:00:00
abstract::Mutations in the breast cancer susceptibility gene BRCA1 predispose individuals to breast and ovarian cancers. Cofactor of BRCA1 (COBRA1), a novel protein, was isolated as a BRCA1-interacting protein. However, the role of COBRA1 in breast cancer is poorly understood. In this study, we demonstrate that COBRA1 mRNA was ...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1080/15216540410001699826
更新日期:2004-03-01 00:00:00
abstract::Worldwide, one of the most prevalent forms of chronic disease is alcoholic fatty liver, which may progress to more severe forms of liver injury including steatohepatitis, fibrosis, and cirrhosis. The molecular mechanisms by which ethanol consumption causes accumulation of hepatic lipid are multiple and complex. Chroni...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.124
更新日期:2008-12-01 00:00:00
abstract::In protein and RNA macromolecules, only a limited number of different side-chain chemical groups are available to function as catalysts. The myriad of enzyme-catalyzed reactions results from the ability of most of these groups to function either as nucleophilic, electrophilic, or general acid-base catalysts, and the k...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1080/15216540211468
更新日期:2002-02-01 00:00:00
abstract::Stem cells from human exfoliated deciduous teeth (SHEDs) are highly proliferative, clonogenic, and multipotent stem cells with a neural crest cell origin. This property could be a desirable option for potential therapeutic applications. In this study, we focus on the effects of Rho kinase inhibitors Y-27632 and Noggin...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.2208
更新日期:2020-04-01 00:00:00
abstract::High-glucose-induced retinal tissue impairment is the major pathological phenotype of diabetic retinopathy. In an in vitro diabetic apoptosis cell model, we evaluated the function of long noncoding RNA, insulin growth factor 2 antisense (IGF2-AS) in high-glucose-injured human retinal pigment epithelial cells. A human ...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.2102
更新日期:2019-10-01 00:00:00
abstract::Cisplatin (CP), as a chemotherapeutic drug, causes nephrotoxicity that has limited the clinical utility of CP. Gliclazide (GLZ), as an antihyperglycemic drug, at low dose has antioxidant property. In this study, we aimed to investigate the protective effect of GLZ against CP-induced acute renal injury. Sixty-four BALB...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.2342
更新日期:2020-09-01 00:00:00
abstract::T cell (TC) activation requires the coordinated signaling of the T cell receptor (TCR) and coreceptor molecules, allowing TCs to respond to lower degrees of TCR occupancy. Coreceptor molecules set the threshold for TC activation by controlling different regulatory signaling loops. The Cbl family members prevent undesi...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.554
更新日期:2011-10-01 00:00:00
abstract::Although vitamin E has been recognized as a critical micronutrient to neuronal health for more than half a century, vitamin E transport and regulation in the brain remain a mystery. Currently, the majority of what is known about vitamin E transport has been delineated in the liver. However, clues from the pathogenesis...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.1993
更新日期:2019-04-01 00:00:00
abstract::How cells regulate Gq efficacy (initiation and termination of Gq signaling) to effect response remains a central question in pharmacology and drug discovery. Phospholipase C-β1 (PLC-β1) is an effector and a GTPase activating protein (GAP) specific to Gαq. The physiological function of PLC-β1 GAP remains unclear and co...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.1218
更新日期:2013-11-01 00:00:00
abstract::Pancreatic islet beta-cells are poised to generate metabolic messengers in the mitochondria that link glucose metabolism to insulin exocytosis. This is accomplished through the tight coupling of glycolysis to mitochondrial activation. The messenger molecules ATP and glutamate are produced after the metabolism of glyco...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1080/152165400410236
更新日期:2000-05-01 00:00:00
abstract::Antibiotic resistance in Acinetobacter spp., particularly Acinetobacter baumannii, is increasing rapidly. A. baumannii possesses two intrinsic β-lactamase genes, in addition to weak permeability and efflux systems, that together confer a natural reduced susceptibility to antibiotics. In addition, numerous acquired mec...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.532
更新日期:2011-12-01 00:00:00
abstract::Magnetic targeting has shown promise to improve the efficacy and safety of different classes of therapeutic agents by enabling their active guidance to the site of disease and minimizing dissemination to nontarget tissues. However, its translation into clinic has proven difficult because of inherent limitations of tra...
journal_title:IUBMB life
pub_type: 杂志文章,评审
doi:10.1002/iub.479
更新日期:2011-08-01 00:00:00
abstract::Altered activity of the proteolytic machine-the 26S proteasome is observed in many disease conditions. Hence, either inhibition or activation of the 26S proteasome is thought to be a novel therapy for treatment of certain diseases such as cancer and neurodegenerative disorders. In this study, we tested the potential o...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.1735
更新日期:2018-05-01 00:00:00
abstract::Transfected human apoptosis signal-regulating kinase 1 (ASK1) produces a 150 kDa protein. However, we have detected endogenous ASK1 predominantly as 39 and 50 kDa C-terminal and 75 and 110 kDa N-terminal fragments in a panel of nontransfected cancer cell lines and HUVEC endothelial cells. This suggests that in nonapop...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.24
更新日期:2008-03-01 00:00:00
abstract::Silymarin, which is derived from the seeds of Silybum marianum, has been widely used to prevent and treat liver diseases. In our previous study, we reported that at concentrations above the minimal inhibitory concentration (MIC), silymarin exhibited antifungal activity against Candida albicans by targeting its plasma ...
journal_title:IUBMB life
pub_type: 杂志文章
doi:10.1002/iub.1716
更新日期:2018-03-01 00:00:00