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[Brain neurotransmitter systems gene Polymorphism: the Search for pharmacogenetic markers of efficacy of haloperidol in Russians and Tatars].

https://arctichealth.org/en/permalink/ahliterature270417
Source
Mol Biol (Mosk). 2015 Nov-Dec;49(6):959-67
Publication Type
Article
Author
A E Gareeva
K O Kinyasheva
D Yu Galaktionova
E T Sabirov
R G Valinourov
A V Chudinov
A S Zasedatelev
T V Nasedkina
E K Khusnutdinova
Source
Mol Biol (Mosk). 2015 Nov-Dec;49(6):959-67
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Antipsychotic Agents - pharmacology - therapeutic use
Brain - drug effects - metabolism
Case-Control Studies
Catechol O-Methyltransferase - genetics
Female
Haloperidol - pharmacology - therapeutic use
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Receptor, Serotonin, 5-HT2A - genetics
Receptors, Dopamine D4 - genetics
Schizophrenia - drug therapy - ethnology - genetics
Synaptic Transmission - genetics
Tatarstan
Tryptophan Hydroxylase - genetics
Vesicular Monoamine Transport Proteins
Abstract
Antipsychotics are the main drugs for the treatment of severe mental illness--schizophrenia affects about 1% of the population. The mechanism of action of neuroleptics is still up to the end. Several studies in the field of pharmacogenetics confirm enourmous influence of several neurotransmitter systems in the brain on the efficiency and the development of side effects. In this paper, we analyzed the association of nine polymorphic variants of five genes of dopaminergic and serotonergic systems DRD4, HTR2A, TPH1, SLC18A1, COMT in Russian and Tatars patients living in the Republic of Bashkortostan (RB) with the efficiency of a typical antipsychotic haloperidol on the scale of positive and negative systems of PANSS. The study established pharmacogenetic markers of increased and decreased effectiveness of therapy with haloperidol in the treatment groups. The results of this study confirm the importance of changes in the nucleotide sequences of the studied genes of the serotoninergic and dopaminergic systems (HTR2A, TPH1, SLC18A1 COMT, DRD4) in the formation of individual sensitivity to haloperidol. The results of our work considered as preliminary contact, requires an increase in the number of samples studied.
PubMed ID
26710776 View in PubMed
Less detail

[Distribution of structural polymorphisms of angiotensin-converting enzyme and serotonin receptor 5-HT2A genes among long-livers of North-Western Russia].

https://arctichealth.org/en/permalink/ahliterature138283
Source
Adv Gerontol. 2011;24(4):620-5
Publication Type
Article
Date
2011
Author
T Iu Smirnova
D L Spivak
G S Iakupova
A G Zakharchuk
I M Spivak
Source
Adv Gerontol. 2011;24(4):620-5
Date
2011
Language
Russian
Publication Type
Article
Keywords
Aged
Aged, 80 and over
Blood Pressure - genetics
Depression - genetics - metabolism
Female
Gene Frequency
Genome-Wide Association Study
Humans
Male
Middle Aged
Peptidyl-Dipeptidase A - genetics
Polymorphism, Genetic
Receptors, Serotonin, 5-HT2 - genetics
Renin-Angiotensin System - genetics
Russia
Serotonin - metabolism
Synaptic Transmission - genetics
Abstract
In the group of long-livers of the North-West of Russia, I/D polymorphism of angiotensin-converting enzyme (ACE) gene and C102T polymorphism of serotonin receptor (5-HT2A) gene were studied. No reliable differences in allele frequency of these genes between long-livers and young people were detected. Nevertheless, highly pronounced difference in the A1/A2 allele frequency of 5-HT2A gene between populations of the North-West of Russia, on the one hand, and of the USA, on the other hand, was discovered (i.e. 0.397(A1), 0.603(A2), and 0.615(A1), 0.385(A2), respectively). Differences of this kind between the two populations deserve special consideration, conditioning the necessity of further detailed analysis of other genes of the serotonin system in the populations of other regions of Russia.
PubMed ID
22550870 View in PubMed
Less detail

Dopaminergic neurotransmission and restless legs syndrome: a genetic association analysis.

https://arctichealth.org/en/permalink/ahliterature192986
Source
Neurology. 2001 Oct 9;57(7):1304-6
Publication Type
Article
Date
Oct-9-2001
Author
A. Desautels
G. Turecki
J. Montplaisir
N. Ftouhi-Paquin
M. Michaud
V A Chouinard
G A Rouleau
Author Affiliation
Centre d'étude du sommeil, Hôpital du Sacré Coeur de Montréal, Université de Montréal, Canada.
Source
Neurology. 2001 Oct 9;57(7):1304-6
Date
Oct-9-2001
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Canada
Case-Control Studies
Dopamine - genetics - metabolism
Dopamine beta-Hydroxylase - genetics
Female
Gene Frequency
Genotype
Humans
Male
Middle Aged
Polymorphism, Genetic
Receptors, Dopamine - genetics - metabolism
Restless Legs Syndrome - genetics - metabolism
Synaptic Transmission - genetics
Tyrosine 3-Monooxygenase - genetics
Abstract
In order to examine the genetic substrate of the dopamine hypothesis in restless legs syndrome, we analyzed eight genes coding for receptors and enzymes related to dopaminergic transmission, using a population of 92 patients with restless legs syndrome and 182 controls matched for ethnic background. No significant differences were found in the genotypic or allelic distributions between groups. Furthermore, no effect of the loci examined was observed with stratification using clinical parameters such as age at onset or periodic leg movements during sleep index.
Notes
Comment In: Neurology. 2001 Oct 9;57(7):1153-411591829
PubMed ID
11591853 View in PubMed
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GABBR1 and SLC6A1, two genes involved in modulation of GABA synaptic transmission, influence risk for alcoholism: Results from three ethnically diverse populations.

https://arctichealth.org/en/permalink/ahliterature276771
Source
Alcohol Clin Exp Res. 2016 Jan;40(1):93-101
Publication Type
Article
Date
Jan-2016
Author
Enoch M-A
Hodgkinson CA
Shen P-H
Gorodetsky E
Marietta CA
Roy A
Goldman D
Source
Alcohol Clin Exp Res. 2016 Jan;40(1):93-101
Date
Jan-2016
Language
English
Publication Type
Article
Keywords
Adult - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
African Americans - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Alcoholism - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Alleles - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Case-Control Studies - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
European Continental Ancestry Group - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Female - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Finland - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
GABA Plasma Membrane Transport Proteins - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Genetic Predisposition to Disease - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Haplotypes - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Humans - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Indians, North American - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Male - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Middle Aged - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Phenotype - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Polymorphism, Single Nucleotide - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Promoter Regions, Genetic - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Protective Factors - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Quinolines - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Receptors, GABA-B - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Sulfonamides - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Synaptic Transmission - genetics - genetics - genetics - genetics - genetics - metabolism - genetics - metabolism - genetics
Abstract
Animal and human studies indicate that GABBR1, encoding the GABAB1 receptor subunit, and SLC6A1, encoding the neuronal gamma-aminobutyric acid (GABA) transporter GAT1, play a role in addiction by modulating synaptic GABA. Therefore, variants in these genes might predict risk/resilience for alcoholism.
This study included 3 populations that differed by ethnicity and alcoholism phenotype: African American (AA) men: 401 treatment-seeking inpatients with single/comorbid diagnoses of alcohol and drug dependence, 193 controls; Finnish Caucasian men: 159 incarcerated alcoholics, half with comorbid antisocial personality disorder, 181 controls; and a community sample of Plains Indian (PI) men and women: 239 alcoholics, 178 controls. Seven GABBR1 tag single nucleotide polymorphisms were genotyped in the AA and Finnish samples; rs29220 was genotyped in the PI for replication. Also, a uniquely African, functional SLC6A1 insertion promoter polymorphism (IND) was genotyped in the AAs.
We found a significant and congruent association between GABBR1 rs29220 and alcoholism in all 3 populations. The major genotype (heterozygotes in AAs, Finns) and the major allele in PIs were significantly more common in alcoholics. Moreover, SLC6A1 IND was more abundant in controls, that is, the major genotype predicted alcoholism. An analysis of combined GABBR1 rs29220 and SLC6A1 IND genotypes showed that rs29220 heterozygotes, irrespective of their IND status, had an increased risk for alcoholism, whereas carriers of the IND allele and either rs29220 homozygote were more resilient.
Our results show that with both GABBR1 and SLC6A1, the minor genotypes/alleles were protective against risk for alcoholism. Finally, GABBR1 rs29220 might predict treatment response/adverse effects for baclofen, a GABAB receptor agonist.
Notes
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PubMed ID
26727527 View in PubMed
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Impairment of cholinergic neurotransmission in adult and aged transgenic Tg2576 mouse brain expressing the Swedish mutation of human beta-amyloid precursor protein.

https://arctichealth.org/en/permalink/ahliterature188125
Source
Brain Res. 2002 Oct 25;953(1-2):17-30
Publication Type
Article
Date
Oct-25-2002
Author
Jenny Apelt
Ashok Kumar
Reinhard Schliebs
Author Affiliation
Department of Neurochemistry, Paul Flechsig Institute for Brain Research, University of Leipzig, Jahnallee 59, D-04109 Leipzig, Germany.
Source
Brain Res. 2002 Oct 25;953(1-2):17-30
Date
Oct-25-2002
Language
English
Publication Type
Article
Keywords
Acetylcholinesterase - analysis - metabolism
Age Factors
Amyloid beta-Protein Precursor - genetics
Animals
Brain - enzymology
Choline O-Acetyltransferase - analysis - metabolism
Humans
Immunohistochemistry
Mice
Mice, Inbred C57BL
Mice, Transgenic
Point Mutation
Receptors, Muscarinic - metabolism
Receptors, Nicotinic - metabolism
Sweden
Synaptic Transmission - genetics
Abstract
To address the question of whether beta-amyloid peptides also affect cholinergic neurotransmission in vivo, brain tissue from transgenic Tg2576 mice with Alzheimer plaque pathology at ages ranging from 7 to 24 months were examined by immuno- and histochemical staining for choline acetyltransferase (ChAT) and acetycholinesterase (AChE), by assaying cholinergic enzyme activities and high-affinity choline uptake as well muscarinic and nicotinic cholinergic receptor binding levels by quantitative autoradiography. Cortical and hippocampal activities of AChE and ChAT were not different between transgenic mice and non-transgenic littermates regardless of the postnatal ages examined. However, high-affinity choline uptake was reduced in the hippocampus of 21-month-old transgenic mice. In brains of 8-month-old transgenic mice which do not yet demonstrate cortical beta-amyloids, reduced binding levels of cortical and hippocampal M1-muscarinic cholinergic receptors were observed, which were still reduced in 17-month-old transgenic mouse brains with high plaque load as compared to non-transgenic littermates. M2-muscarinic cholinergic receptor binding was hardly affected in brains from 8-month-old transgenic mice, but in 17-month-old transgenic mice reduced cortical and hippocampal binding levels were observed as compared to non-transgenic controls. Decreased cortical nicotinic cholinergic receptor binding was detected in 17-month-old transgenic mice. The development of changes in cholinergic synaptic markers in transgenic Tg2576 mouse brain before the onset of progressive plaque deposition provides in vivo evidence of a modulatory role of soluble beta-amyloid on cholinergic neurotransmission and may be referred to the deficits in learning and memory also observed in these mice before significant plaque load.
PubMed ID
12384234 View in PubMed
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MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets.

https://arctichealth.org/en/permalink/ahliterature268560
Source
Mol Psychiatry. 2015 Apr;20(4):472-81
Publication Type
Article
Date
Apr-2015
Author
M. Strazisar
S. Cammaerts
K. van der Ven
D A Forero
A-S Lenaerts
A. Nordin
L. Almeida-Souza
G. Genovese
V. Timmerman
A. Liekens
P. De Rijk
R. Adolfsson
P. Callaerts
J. Del-Favero
Source
Mol Psychiatry. 2015 Apr;20(4):472-81
Date
Apr-2015
Language
English
Publication Type
Article
Keywords
Cell Line, Tumor
Female
Gene Expression Profiling
Gene Frequency
Green Fluorescent Proteins - genetics - metabolism
Humans
Male
Mental Disorders - genetics - pathology
MicroRNAs - genetics - metabolism
Microarray Analysis
Minisatellite Repeats - genetics
Models, Molecular
Neuroblastoma - pathology
Neurogenesis - genetics
Oligonucleotide Array Sequence Analysis
Sweden
Synaptic Transmission - genetics
Transfection
Abstract
Sequence analysis of 13 microRNA (miRNA) genes expressed in the human brain and located in genomic regions associated with schizophrenia and/or bipolar disorder, in a northern Swedish patient/control population, resulted in the discovery of two functional variants in the MIR137 gene. On the basis of their location and the allele frequency differences between patients and controls, we explored the hypothesis that the discovered variants impact the expression of the mature miRNA and consequently influence global mRNA expression affecting normal brain functioning. Using neuronal-like SH-SY5Y cells, we demonstrated significantly reduced mature miR-137 levels in the cells expressing the variant miRNA gene. Subsequent transcriptome analysis showed that the reduction in miR-137 expression led to the deregulation of gene sets involved in synaptogenesis and neuronal transmission, all implicated in psychiatric disorders. Our functional findings add to the growing data, which implicate that miR-137 has an important role in the etiology of psychiatric disorders and emphasizes its involvement in nervous system development and proper synaptic function.
PubMed ID
24888363 View in PubMed
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Poor premorbid school performance is associated with later cigarette smoking among schizophrenia patients.

https://arctichealth.org/en/permalink/ahliterature67145
Source
Psychiatry Res. 2005 Nov 15;137(1-2):137-41
Publication Type
Article
Date
Nov-15-2005
Author
Kaisa Riala
Helinä Hakko
Matti Isohanni
Jari Jokelainen
Mark Weiser
Pirkko Räsänen
Author Affiliation
Department of Psychiatry, University of Oulu, Box 5000, FIN-90014 University of Oulu, Finland. kaisa.riala@oulu.fi
Source
Psychiatry Res. 2005 Nov 15;137(1-2):137-41
Date
Nov-15-2005
Language
English
Publication Type
Article
Keywords
Adult
Cohort Studies
Female
Finland
Follow-Up Studies
Humans
Male
Receptors, Nicotinic - genetics - physiology
Research Support, Non-U.S. Gov't
Risk
Schizophrenia - diagnosis - epidemiology - genetics
Schizophrenic Psychology
Smoking - epidemiology - psychology
Statistics
Synaptic Transmission - genetics
Underachievement
Abstract
Schizophrenia patients who smoke have been postulated to have genetically mediated dysfunctional nicotinic neurotransmission. We hypothesized that this nicotinic dysfunction would manifest as poorer school performance in adolescence, before the onset of illness, in smoking compared with non-smoking schizophrenia patients. Over a 31-year follow-up period, 100 (65 men) cohort members of the Northern Finland 1966 Birth Cohort were hospitalized and diagnosed with DSM-III-R schizophrenia. The information on school performance was obtained at the end of compulsory schooling at age 16 years. The information on smoking habits was gathered from a questionnaire mailed to cohort members at the age of 31 years. Compared with non-smoking schizophrenia patients, schizophrenia patients who smoked in adulthood had lower overall mean grades, lower mean grades in combined mathematical subjects, and lower grades in music. Poor school performance might represent premorbid nicotinergic dysfunction associated with cognitive deficits in future smokers among schizophrenia patients compared with those who remained non-smokers.
PubMed ID
16225931 View in PubMed
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Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes.

https://arctichealth.org/en/permalink/ahliterature307239
Source
Sci Rep. 2020 01 20; 10(1):630
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
01-20-2020
Author
Mitra Etemadikhah
Adnan Niazi
Lennart Wetterberg
Lars Feuk
Author Affiliation
Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
Source
Sci Rep. 2020 01 20; 10(1):630
Date
01-20-2020
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Aged
Early Growth Response Protein 1 - genetics
Early Growth Response Protein 3 - genetics - metabolism
Female
Fibroblasts
Gene Expression
Gene Expression Profiling - methods
Gene Regulatory Networks - genetics
Hepatocyte Growth Factor - genetics - metabolism
Humans
Male
Membrane Proteins - genetics - metabolism
Nerve Tissue Proteins - genetics - metabolism
Neuronal Plasticity - genetics
Schizophrenia - genetics
Sweden
Synaptic Transmission - genetics
Whole Exome Sequencing
Abstract
Schizophrenia is a complex neurodevelopmental disorder with high rate of morbidity and mortality. While the heritability rate is high, the precise etiology is still unknown. Although schizophrenia is a central nervous system disorder, studies using peripheral tissues have also been established to search for patient specific biomarkers and to increase understanding of schizophrenia etiology. Among all peripheral tissues, fibroblasts stand out as they are easy to obtain and culture. Furthermore, they keep genetic stability for long period and exhibit molecular similarities to cells from nervous system. Using a unique set of fibroblast samples from a genetically isolated population in northern Sweden, we performed whole transcriptome sequencing to compare differentially expressed genes in seven controls and nine patients. We found differential fibroblast expression between cases and controls for 48 genes, including eight genes previously implicated in schizophrenia or schizophrenia related pathways; HGF, PRRT2, EGR1, EGR3, C11orf87, TLR3, PLEKHH2 and PIK3CD. Weighted gene correlation network analysis identified three differentially co-expressed networks of genes significantly-associated with schizophrenia. All three modules were significantly suppressed in patients compared to control, with one module highly enriched in genes involved in synaptic plasticity, behavior and synaptic transmission. In conclusion, our results support the use of fibroblasts for identification of differentially expressed genes in schizophrenia and highlight dysregulation of synaptic networks as an important mechanism in schizophrenia.
PubMed ID
31959813 View in PubMed
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8 records – page 1 of 1.