Genetic association of NOS1 exon18, NOS1 exon29, ABCB1 1236C/T, and ABCB1 3435C/T polymorphisms with the risk of Parkinson's disease

Huang, Huichao; Peng, Cong; Liu, Yong; Liu, Xu; Chen, Qicong; Huang, Zunnan

doi:10.1097/md.0000000000004982

Cited by 7 publications

(6 citation statements)

References 52 publications

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“…Similarly, Contino and colleagues, aiming at developing compounds able to up-regulate P-gp expression in order to reach a detoxification effect of the central nervous system (CNS) caused by AB accumulation, used an ex vivo model and identified a new benzopyrane derivative as a P-gp inducing agent [ 87 ]. Parkinson’s disease (PD) is the second most frequent neurodegenerative disorder [ 88 ]. For the same reason as that referred for AD, ABC carriers seem to be involved in PD pathophysiology since they have an important role in transporting out of the brain α-synuclein, one of the dominant proteins found in Lewy Bodies, a pathological hallmark of Lewy body disorders, including PD [ 89 ].…”

Section: Overview Of the Abc Transportersmentioning

confidence: 99%

“…However, in many cases, the reported effects of these polymorphisms have been conflicting. A recently published meta-analysis conducted by Huang and colleagues suggested that ABCB11236C/T variants might play a role in the risk of PD, whereas ABCB13435C/T polymorphisms might not contribute to PD susceptibility [ 88 ]. On the other hand, a study showed that LRP1, but not P-gp, may be involved in α-synuclein efflux across BBB [ 89 ].…”

Section: Overview Of the Abc Transportersmentioning

confidence: 99%

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Cellular Models and In Vitro Assays for the Screening of modulators of P-gp, MRP1 and BCRP

et al. 2017

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Adenosine triphosphate (ATP)-binding cassette (ABC) transporters are highly expressed in tumor cells, as well as in organs involved in absorption and secretion processes, mediating the ATP-dependent efflux of compounds, both endogenous substances and xenobiotics, including drugs. Their expression and activity levels are modulated by the presence of inhibitors, inducers and/or activators. In vitro, ex vivo and in vivo studies with both known and newly synthesized P-glycoprotein (P-gp) inducers and/or activators have shown the usefulness of these transport mechanisms in reducing the systemic exposure and specific tissue access of potentially harmful compounds. This article focuses on the main ABC transporters involved in multidrug resistance [P-gp, multidrug resistance-associated protein 1 (MRP1) and breast cancer resistance protein (BCRP)] expressed in tissues of toxicological relevance, such as the blood-brain barrier, cardiovascular system, liver, kidney and intestine. Moreover, it provides a review of the available cellular models, in vitro and ex vivo assays for the screening and selection of safe and specific inducers and activators of these membrane transporters. The available cellular models and in vitro assays have been proposed as high throughput and low-cost alternatives to excessive animal testing, allowing the evaluation of a large number of compounds.

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Section: Overview Of the Abc Transportersmentioning

confidence: 99%

Section: Overview Of the Abc Transportersmentioning

confidence: 99%

Cellular Models and In Vitro Assays for the Screening of modulators of P-gp, MRP1 and BCRP

et al. 2017

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“…VIP (vasoactive intestinal peptide) [336], CD40 [337], CCL2 [338], DKK2 [339], ACE (angiotensin I converting enzyme) [340], KCNN4 [341], A2M [342], CDKN2A [343], MYD88 [344], TLR6 [345], ANXA1 [346], SPHK1 [347], CACNA1A [348], SLITRK2 [349], IL33 [350], CAT (catalase) [351], GPR78 [352], ANG (angiogenin) [353], GDF15 [354] and ADH1B [355] might be a potential therapeutic targets for neurodegenerative diseases treatment. At present, abnormal expression of VIP (vasoactive intestinal peptide) [356], HFE (homeostatic iron regulator) [357], CCL2 [358], HLA-DRA [359], TFF3 [360], NOS1 [361], NPPC (natriuretic peptide C) [362], ACE (angiotensin I converting enzyme) [363], GSDMD (gasdermin D) [364], A2M [365], PLXNA4 [366], CD44 [367], CASP1 [364], DRD3 [368], UNC5C [369], CAV1 [370], SPHK1 [371], CD163 [372], RPH3A [373], HGF (hepatocyte growth factor) [374], CCKBR (cholecystokinin B receptor) [375], TNFSF9 [376], MEG3 [377], GPR78 [378], NEUROG2 [379], ANG (angiogenin) [380], GDF15 [381], UNC5A [382], SLC1A2 [383], DRD2 [384], GPR143 [385], RASGRP1 [386] and MOBP (myelin associated oligodendrocyte basic protein) [387] have been found in a Parkinson’s disease. VIP (vasoactive intestinal peptide) [388], CD40 [389], WT1 [390], HFE (homeostatic iron regulator) [391], TAC1 [392], AQP5 [393], WNT2B [394], RUNX1 [395], NOS1 [396], DKK2 [339], ADAM12 [397], ABCG2 [398], NINJ2 [399], ACE (angiotensin I converting enzyme) [400], PRKCB (protein kinase C beta) [401], A2M […”

Section: Discussionmentioning

confidence: 99%

Screening of the Key Genes and Signaling Pathways for Schizophrenia Using Bioinformatics and Next Generation Sequencing Data Analysis

Vastrad,

Vastrad

2023

Preprint

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Schizophrenia is thought to be the most prevalent chronic psychiatric disorder. Numerous proteins have been identified that are associated with the occurrence and development of schizophrenia. This study aimed to identify potential core genes and pathways involved in schizophrenia, through exhaustive bioinformatic and next generation sequencing (NGS) data analyses using GSE20966 NGS data of neural progenitor cells and neurons obtained from healthy controls and patients with schizophrenia. The NGS data were downloaded from the Gene Expression Omnibus database. NGS data was processed by the DESeq2 package in R software and the differentially expressed genes (DEGs) were identified. Gene Ontology (GO) enrichment analysis and REACTOME pathway enrichment analysis were carried out to identify potential biological functions and pathways of the DEGs. Protein-protein interaction (PPI) network, module, miRNA-hub gene regulatory network and TF-hub gene regulatory network analysis were performed to identify the hub genes, miRNA and TFs. Potential hub genes were analyzed using receiver operating characteristic (ROC) curves in the R package (pROC). In this investigation, an overall 955 DEGs were identified: 478 genes were remarkably up regulated and 477 genes were distinctly down regulated. These genes were enriched for GO terms and pathways mainly involved in the multicellular organismal process, GPCR ligand binding, regulation of cellular process and amine ligand-binding receptors. MYC, FN1, CDKN2A, EEF1G, CAV1, ONECUT1, SYK, MAPK13, TFAP2A and BTK were considered the potential hub genes. miRNA-hub gene regulatory network and TF-hub gene regulatory network were constructed successfully. On the whole, the findings of this investigation enhance our understanding of the potential molecular mechanisms of schizophrenia and provide potential targets for further investigation.

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“…Our study demonstrated that children with the CC genotype exhibited shorter times of induction, respiration recovery, eye-opening, and extubation compared to the MDR1 1236C > T CT + TT genotype. MDR1 is something that can be found in a variety of tissues including gastrointestinal and nasal respiratory mucosa, liver, kidneys, placenta, and the adrenal cortex [ 22 ]. It is known that Propofol and remifentanil have been extensively applied for anesthesia, analgesia, and procedural sedation [ 23 - 25 ].…”

Section: Discussionmentioning

confidence: 99%

Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy

Zhang

Wang

et al. 2017

Oncotarget

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The motive of this study was to investigate the interaction between polymorphisms in the MDR1 gene and anesthetic effects following pediatric tonsillectomy. In total, 240 children undergoing tonsillectomy with preoperative propofol-remifentanil anesthesia were selected. Genomic DNA was extracted from the peripheral blood of children after operation, and the MDR1 gene polymorphisms of 2677 G>T/A, 1236 C>T and 3435 C>T were detected by direct sequencing. We tested mean arterial pressure, diastolic blood pressure, systolic blood pressure, and heart rate at several time-points: T0 (5 mins after the repose), T1 (0 min after tracheal intubation), T2 (5 mins after the tracheal intubation), T3 (0 min after the tonsillectomy), T4 (0 min after removal of the mouth-gag) and T5 (5 min after the extubation). The visual analog scale, the face, legs, activity, cry, and consolability pain assessment, and the Ramsay sedation score were recorded after the patients regained consciousness. Adverse reactions were also recorded. The time of induction, respiration recovery, eye-opening, and extubation of children with the CC genotype were found to be shorter compared to the CT + TT genotype of MDR1 1236C > T (all P <.05). The mean arterial pressure, diastolic blood pressure, systolic blood pressure, and heart rate were significantly reduced at T5 in children with the CC genotype (all P <.05). The visual analog scale at 1, 2, 4, and 8 hours post-operation, and the Ramsay sedation score at 5, 10, and 30 min after the extubation were decreased, while the face, legs, activity, cry, and consolability pain assessment score increased (all P <0.05). There was no statistically significant difference in the adverse reaction of MDR1 mutations (P> 0.05). It could be concluded that anesthetic effect following pediatric tonsillectomy in patients with the MDR1 1236C > T CC genotype was stronger than in those carrying the CT + TT genotype.

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Genetic association of NOS1 exon18, NOS1 exon29, ABCB1 1236C/T, and ABCB1 3435C/T polymorphisms with the risk of Parkinson's disease

Cited by 7 publications

References 52 publications

Cellular Models and In Vitro Assays for the Screening of modulators of P-gp, MRP1 and BCRP

Cellular Models and In Vitro Assays for the Screening of modulators of P-gp, MRP1 and BCRP

Screening of the Key Genes and Signaling Pathways for Schizophrenia Using Bioinformatics and Next Generation Sequencing Data Analysis

Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy

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