Altered expression of preproenkephalin and prodynorphin mRNA in a genetic model of paroxysmal dystonia

2004 ◽  
Vol 1015 (1-2) ◽  
pp. 87-95 ◽  
Author(s):  
J.N Nobrega ◽  
J.H Parkes ◽  
P Wong ◽  
R Raymond ◽  
A Richter
Keyword(s):  
Genetic Model ◽  
Altered Expression ◽  
Paroxysmal Dystonia ◽  
Prodynorphin Mrna

scholarly journals A genetic locus for paranoia

2018 ◽  
Vol 14 (1) ◽  
pp. 20170694 ◽  
Author(s):  
Bernard Crespi ◽  
Silven Read ◽  
Iiro Salminen ◽  
Peter Hurd
Keyword(s):  
Genetic Model ◽  
Genetic Locus ◽  
Large Population ◽  
Autism Spectrum ◽  
Psychological Effects ◽  
Imprinted Genes ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Altered Expression ◽  
Schizophrenia Spectrum

The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader–Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN , mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN . Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia. These findings provide a single-locus genetic model for analysing the neurological and psychological bases of paranoid thinking, and implicate imprinted genes, and genomic conflicts, in human mentalistic thought.

Effects of locally administered pentylenetetrazole on nigral single unit activity and severity of dystonia in a genetic model of paroxysmal dystonia

2002 ◽  
Vol 68 (5) ◽  
pp. 595-603 ◽  
Author(s):  
Maren Fedrowitz ◽  
Melanie Hamann ◽  
Jan H. Rehders ◽  
Angelika Richter ◽  
Manuela Gernert
Keyword(s):  
Unit Activity ◽  
Single Unit ◽  
Genetic Model ◽  
Single Unit Activity ◽  
Paroxysmal Dystonia

Theszmutant hamster: A genetic model of epilepsy or of paroxysmal dystonia?

1989 ◽  
Vol 4 (3) ◽  
pp. 219-232 ◽  
Author(s):  
Wolfgang Löscher ◽  
J. Edward Fisher ◽  
Dieter Schmidt ◽  
Gabriele Fredow ◽  
Dagmar Hönack ◽  
...  
Keyword(s):  
Genetic Model ◽  
Paroxysmal Dystonia

scholarly journals Effect of APOB polymorphism rs562338 (G/A) on serum proteome of coronary artery disease patients: a “proteogenomic” approach

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Muneeza Zafar ◽  
Munazza Raza Mirza ◽  
Fazli Rabbi Awan ◽  
Muhammad Tahir ◽  
Rabia Sultan ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Genetic Model ◽  
Control Group ◽  
Amplification Refractory Mutation System ◽  
Genotypic Frequency ◽  
Label Free ◽  
Altered Expression ◽  
Transfer Activity ◽  
Artery Disease

AbstractIn the current study, APOB (rs1052031) genotype-guided proteomic analysis was performed in a cohort of Pakistani population. A total of 700 study subjects, including Coronary Artery Disease (CAD) patients (n = 480) and healthy individuals (n = 220) as a control group were included in the study. Genotyping was carried out by using tetra primer-amplification refractory mutation system-based polymerase chain reaction (T-ARMS-PCR) whereas mass spectrometry (Orbitrap MS) was used for label free quantification of serum samples. Genotypic frequency of GG genotype was found to be 90.1%, while 6.4% was for GA genotype and 3.5% was for AA genotypes in CAD patients. In the control group, 87.2% healthy subjects were found to have GG genotype, 11.8% had GA genotype, and 0.9% were with AA genotypes. Significant (p = 0.007) difference was observed between genotypic frequencies in the patients and the control group. The rare allele AA was found to be strongly associated with the CAD [OR: 4 (1.9–16.7)], as compared to the control group in recessive genetic model (p = 0.04). Using label free proteomics, altered expression of 60 significant proteins was observed. Enrichment analysis of these protein showed higher number of up-regulated pathways, including phosphatidylcholine-sterol O-acyltransferase activator activity, cholesterol transfer activity, and sterol transfer activity in AA genotype of rs562338 (G>A) as compared to the wild type GG genotype. This study provides a deeper insight into CAD pathobiology with reference to proteogenomics, and proving this approach as a good platform for identifying the novel proteins and signaling pathways in relation to cardiovascular diseases.

The Oral Intake of Organic Germanium, Ge-132, Elevates α-Tocopherol Levels in the Plas-ma and Modulates Hepatic Gene Expression Profiles to Promote Immune Activation in Mice

2014 ◽  
Vol 84 (3-4) ◽  
pp. 0183-0195 ◽  
Author(s):  
Takashi Nakamura ◽  
Tomoya Takeda ◽  
Yoshihiko Tokuji
Keyword(s):  
Gene Expression ◽  
Immune Activation ◽  
Expression Profiles ◽  
Water Soluble ◽  
Alpha Tocopherol ◽  
Hepatic Gene Expression ◽  
Tocopherol Concentration ◽  
Altered Expression ◽  
Atp Production ◽  
Transfer Protein

The common water-soluble organic germanium compound poly-trans-[(2-carboxyethyl) germasesquioxane] (Ge-132) exhibits activities related to immune responses and antioxidant induction. In this study, we evaluated the antioxidative effect of dietary Ge-132 in the plasma of mice. Male ICR mice (seven mice per group) received an AIN-76 diet with 0.05 % Ge-132; three groups received the Ge-132-containing diet for 0, 1 or 4 days. The plasma alpha-tocopherol (α-tocopherol) concentration increased from 6.85 to 9.60 μg/ml after 4 days of Ge-132 intake (p < 0.05). We evaluated the changes in hepatic gene expression related to antioxidative activity as well as in the entire expression profile after one day of Ge-132 intake, using DNA microarray technology. We identified 1,220 genes with altered expression levels greater than 1.5-fold (increased or decreased) as a result of Ge-132 intake, and α-tocopherol transfer protein (Ttpa) gene expression was increased 1.62-fold. Immune activation was identified as the category with the most changes (containing 60 Gene Ontology (GO) term biological processes (BPs), 41 genes) via functional clustering analysis of altered gene expression. Ge-132 affected genes in clusters related to ATP production (22 GO term BPs, 21 genes), lipid metabolism (4 GO term BPs, 38 genes) and apoptosis (5 GO term BPs). Many GO term BPs containing these categories were significantly affected by the Ge-132 intake. Oral Ge-132 intake may therefore have increased plasma α-tocopherol levels by up-regulating α-tocopherol transfer protein (Ttpa) gene expression.

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