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1.
Int. j. morphol ; 38(3): 616-621, June 2020. graf
Article in English | LILACS | ID: biblio-1098296

ABSTRACT

The chronic consumption of alcohol causes a worsening of the events that follow the cerebral ischemia. These events are regulated through the expression of several genes and microRNAs. The aimof this work was To analyze and describe the expression profile of PARP and AIF and miRNA-9 proteins in rats submitted to focal cerebral ischemia, associated or not with chronic alcoholism model. Methods: Twenty adult Wistar rats, subdivided into: control; ischemic; alcoholic and ischemic / alcoholized for immunohistochemical analysis and miRNA-9 gene expression. Results: There was a reduction in the protein expression of PARP-1 and a positive marking for AIF in the ischemic / alcoholized group. The miRNA-9 did not obtain significant expression. The association of ischemia with chronic alcohol use promoted a tendency to low expression of miRNA-9, low expression of PARP-1 and high expression of AIF, indicating an interference in the protective effect of miRNA-9 be observed in the other groups.


El consumo crónico de alcohol provoca un empeoramiento de los eventos que siguen a la isquemia cerebral. Estos eventos están regulados a través de la expresión de varios genes y microRNA. El objetivo de este trabajo fue analizar y describir el perfil de expresión de las proteínas PARP y AIF y microRNA-9 en ratas sometidas a isquemia cerebral focal, asociadas o no, con el modelo de alcoholismo crónico. Veinte ratas Wistar adultas se dividieron en: grupo control, isquémico alcohólico, e isquémico / alcoholizado para análisis inmunohistoquímico y expresión de genes microRNA-9. Resultados: Hubo una reducción en la expresión de proteínas de PARP-1 y un marcado positivo para AIF en el grupo isquémico / alcoholizado. No se observó una expresión significativa en el microRNA-9. La asociación de la isquemia con el consumo crónico de alcohol promovió una tendencia a la baja expresión de microRNA-9, baja expresión de PARP1 y alta expresión de AIF, lo que indica una interferencia en el efecto protector de microRNA-9 en los otros grupos.


Subject(s)
Animals , Rats , Brain Ischemia/metabolism , Alcoholism/metabolism , Immunohistochemistry , Brain Ischemia/genetics , Rats, Wistar , MicroRNAs/metabolism , Disease Models, Animal , Alcoholism/genetics , Apoptosis Inducing Factor/metabolism , Poly (ADP-Ribose) Polymerase-1/metabolism
2.
Colomb. med ; 46(4): 176-182, Oct.-Dec. 2015. ilus
Article in English | LILACS | ID: lil-774951

ABSTRACT

Objective: Identify and characterize polymorphisms of genes ADH2, ADH3, ALDH2 and CYP2E1 in a Colombian population residing in the city of Bogotá and determine its possible relationship to the alcoholism. Methods: ADH2, ADH3, ALDH2, and CYP2E1 genotypes a population of 148 individuals with non-problematic alcohol and 65 individuals with alcoholism were determined with TaqMan probes and PCR-RFLP. DNA was obtained from peripheral blood white cells. Results: Significant difference was found in family history of alcoholism and use of other psychoactive substances to compare alcoholics with controls. When allelic frequencies for each category (gender) were considered, frequency of A2 allele carriers in ADH2 was found higher in male patients than controls. In women, the relative frequency for c1 allele in CYP2E1 was lower in controls than alcoholics. The ALDH2 locus is monomorphic. No significant differences in allele distributions of the loci examined to compare two populations were observed, however when stratifying the same trend was found that these differences tended to be significant. Conclusions: This study allows us to conclude the positive association between family history of alcoholism and alcoholism suggesting that there is a favourable hereditary predisposition. Since substance dependence requires interaction of multiple genes, the combination of genotypes ADH2*2, CYP2E1*1 combined with genotype homozygous ALDH2*1 found in this study could be leading to the population to a potential risk to alcoholism.


Objetivo: Identificar y caracterizar los polimorfismos de los genes ADH2, ADH3, ALDH2 y CYP2E1 de colombianos residentes en la ciudad de Bogotá y determinar su posible relación con el alcoholismo. Métodos: Se determinaron los genotipos ADH2, ADH3, ALDH2 y CYP2E1 a una población de 148 individuos con un consumo no problemático de alcohol y 65 individuos con alcoholismo. La genotipificación se realizó con sondas TaqMan y PCR-RFLP, el ADN se obtuvo de células blancas de sangre periférica. Resultados: Se encontró diferencia significativa en la historia familiar de alcoholismo y el uso de otras sustancias psicoactivas. Cuando se consideraron frecuencias alélicas para cada categoría (género), la frecuencia de portadores del alelo A2 en ADH2 se encontró mayor en los pacientes masculinos que los controles. En las mujeres, la frecuencia relativa para el alelo C1 de CYP2E1 fue menor en controles que en alcohólicos. El locus ALDH2 es monomórfico. No se observaron diferencias significativas en las distribuciones alélicas de los loci examinadas al comparar las dos poblaciones, sin embargo al estratificar las mismas se encontró una tendencia a que esas diferencias fueran significativas. Conclusiones: Este estudio nos permite concluir la asociación positiva entre historia familiar de alcoholismo y el alcoholismo, lo que sugiere que existe una predisposición hereditaria favorable. Dado que la dependencia de sustancias requiere la interacción de múltiples genes como ADH2*2, CYP2E1*1 combinado con el genotipo homocigótico ALDH2*1 hallados en este estudio podría estar llevando a la población a un riesgo potencial hacia el alcoholismo.


Subject(s)
Adult , Female , Humans , Male , Alcohol Dehydrogenase/genetics , Alcoholism/genetics , Aldehyde Dehydrogenase/genetics , /genetics , Polymorphism, Genetic , Case-Control Studies , Colombia , Family , Gene Frequency , Genetic Predisposition to Disease , Genotype , Substance-Related Disorders/genetics
3.
Int. j. morphol ; 33(1): 68-72, Mar. 2015. ilus
Article in Spanish | LILACS | ID: lil-743765

ABSTRACT

El alcoholismo es un importante problema de salud pública. En los últimos años ha causado interés el metabolismo del alcohol, puesto que ha sido considerado un posible determinante biológico en la conducta de consumo. Variados estudios se han orientado a la búsqueda y comprensión de la influencia de polimorfismos, en genes que codifican para los principales sistemas enzimáticos que intervienen en el metabolismo hepático. El polimorfismo rs671 del gen que codifica la enzima ALDH2 ha sido asociado a un menor consumo de alcohol debido a la acumulación de acetaldehído en sangre. Diversos estudios indican que este polimorfismo es frecuente en países asiáticos y se considera un factor protector en los individuos que lo portan. Se incluyeron 207 individuos adultos no relacionados, a los cuales se les aplicó un cuestionario sobre consumo de alcohol. El polimorfismo rs671 fue analizado por la reacción de la polimerasa en cadena (PCR) seguida de restricción enzimática. Además, se determinaron los biomarcadores clásicos indirectos de consumo de alcohol, mediante técnicas enzimáticas y hematológicas. La frecuencia del genotipo homocigoto mutado AA para el polimorfismo rs671 fue 3,0% en sujetos consumidores de alcohol y 2,8% en el grupo no consumidor. La distribución de genotipos y las frecuencias alélicas para esta variante fueron semejantes entre los sujetos estudiados (p>0,05). Estos hallazgos sugieren que la variante rs671 del gen ALDH2 no está asociada al oconsumo de alcohol en los individuos estudiados.


Alcoholism is an important public health problem. In recent years, alcohol metabolism caused interest, since it has been considered a possible biological determinant of alcohol consumption behavior. Several studies have focused on finding and understanding the influence of polymorphisms affecting genes that encode for enzymatic systems involved in the hepatic metabolism. The rs671 polymorphism of the gene encoding ALDH2 has been associated with lower alcohol consumption by leading to acetaldehyde accumulation in blood. This genetic variant is frequently found in Asian population and has been considered as protector factor of alcoholism in these individuals. In the present study, 207 unrelated-adult individuals were included. Alcohol consumption was recorded using a structured questionnaire. The rs671 polymorphism was analyzed using polymerase chain reaction followed by enzymatic digestion. Furthermore, classical biomarkers for alcohol consumption were assessed using enzymatic and hematological techniques. The frequency of homozygote genotype for the A allele (AA) was 3 and 2.8% in those subjects defined as alcohol drinkers and non-alcohol drinkers respectively. The genotypes distribution and allelic frequencies were similar among the studied subject (p>0.05). These data suggest that rs671 ALDH2 gene polymorphism is not associated to alcohol consumption in the studied population.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Polymorphism, Single Nucleotide , Alcoholism/genetics , Aldehyde Dehydrogenase/genetics , Polymorphism, Genetic , Genetic Markers , Chile , Polymerase Chain Reaction , Surveys and Questionnaires , Alcoholism/enzymology , Alcoholism/psychology , Aldehyde Dehydrogenase/metabolism
4.
Psicol. reflex. crit ; 27(4): 806-814, Oct-Dec/2014. graf
Article in English | LILACS, INDEXPSI | ID: lil-728836

ABSTRACT

The objective of this study was to analyze intergenerational patterns of alcohol related violence (ARV). An intentional sample comprising 42 family members was selected according to a set of criteria, including history of ARV. A genogram based on anonymous semi-structured taped interviews was created. The Content Analysis pointed to different patterns of repetition of intergenerational ARV. The most recurrent ones were those of lineal consanguinity (father/son) and through marriage. We observed similarities over the generations of each family as regards the pattern of alcohol consumption; the type of violence; the family reaction and the family life cycle in which ARV was intensified. Our results confirm the intergenerational reproduction of ARV. In conclusion, it is important to create intervention strategies to prevent intergenerational repetition of this association of behaviors. (AU)


O objetivo deste estudo foi analisar os padrões intergeracionais de violência familiar associada ao abuso de álcool (VAA). Foi composta uma amostra intencional por critérios, até a saturação teórica, com 42 familiares com histórico intergeracional de VAA, com os quais foi elaborado um genograma por meio de entrevistas semiestruturadas gravadas, individuais e anônimas. A análise de conteúdo indicou diferentes padrões de repetição intergeracional de VAA, sendo mais frequentes as recorrências em linha direta de parentesco (pai/filho) e por meio de casamento. Ao longo das gerações de cada família, foram observadas similaridades em relação ao padrão de consumo de álcool, tipo de violência, reação da família e etapas do ciclo vital familiar de intensificação da VAA. Os resultados confirmam a reprodução intergeracional de VAA. Concluiu-se a importância de estratégias de intervenção para prevenir a repetição intergeracional dessa associação de comportamentos. (AU)


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Intergenerational Relations , Domestic Violence/psychology , Alcoholism/genetics
5.
Indian J Hum Genet ; 2014 Jan-Mar ;20 (1): 20-31
Article in English | IMSEAR | ID: sea-156629

ABSTRACT

Recent advances in the study of alcoholism have thrown light on the involvement of various neurotransmitters in the phenomenon of alcohol addiction. Various neurotransmitters have been implicated in alcohol addiction due to their imbalance in the brain, which could be either due to their excess activity or inhibition. This review paper aims to consolidate and to summarize some of the recent papers which have been published in this regard. The review paper will give an overview of the neurobiology of alcohol addiction, followed by detailed reviews of some of the recent papers published in the context of the genetics of alcohol addiction. Furthermore, the author hopes that the present text will be found useful to novices and experts alike in the field of neurotransmitters in alcoholism.


Subject(s)
Alcoholism/genetics , Dopamine , Glutamates , Humans , Neurobiology/methods , Neurotransmitter Agents/genetics , Serotonin
6.
Rev. gaúch. enferm ; 34(2): 93-101, jun. 2013. tab
Article in Portuguese | LILACS, BDENF | ID: lil-680917

ABSTRACT

Estudo quantitativo e descritivo, com o objetivo de identificar características sociodemográficas e clínicas de mulheres em tratamento ambulatorial por abuso de álcool. Os dados foram coletados em prontuários de mulheres com transtornos relacionados ao álcool, atendidas em serviço psiquiátrico ambulatorial. Foi realizado levantamento, leitura e análise descritiva. A amostra foi composta por 27 prontuários, a média de idade das mulheres foi 50 anos, maioria casada (59,6%), não trabalhava (70,4%), com ensino fundamental incompleto (70,4%), com familiar alcoolista (81,5%) e outros diagnósticos psiquiátricos (70,3%). Prejuízos físicos, sociais e emocionais mais frequentes foram: sintomas advindos da síndrome de abstinência alcoólica (66,7%), conflitos familiares (72%) e "tristeza" (79,2%). A violência familiar foi registrada em 11 prontuários (40,7%). Verificaram-se baixa escolaridade, desemprego, comorbidades psiquiátricas e presença de outro familiar com abuso de álcool como características comuns. Destaca-se a importância do conhecimento profissional sobre as peculiaridades do alcoolismo feminino para ações de saúde mais efetivas.


Quantitative and descriptive study aimed to identify sociodemographic and clinical characteristics of women undergoing outpatient treatment for alcohol abuse. Data were collected from medical records of women with alcohol-related disorders who were treated at a psychiatric outpatient service. We performed a reading and descriptive analysis of such data. The sample was composed of 27 medical records, the average age of women was 50 years, mostly married (59.6%), not working (70.4%) with incomplete primary education (70.4%), with an alcoholic family (81.5%) and other psychiatric diagnoses (70.3%). Losses physical, social and emotional was the most common symptoms resulting from alcohol withdrawal syndrome (66.7%), family conflicts (72%) and "sadness" (79.2%). Family violence was recorded in 11 records (40.7%). There was low education, unemployment, psychiatric comorbidities and the presence of other family members with alcohol abuse as common characteristics. We emphasize the importance of professional knowledge about the peculiarities of female alcoholism for health activities more effective.


El estudio cuantitativo y descriptivo tuvo como objetivo identificar las características sociodemográficas y clínicas de las mujeres sometidas a tratamiento ambulatorio por abuso de alcohol. Los datos fueron obtenidos de las historias clínicas de mujeres con trastornos relacionados con el alcohol que fueron tratadas en un servicio psiquiátrico ambulatorio. Se realizó un análisis descriptivo y lectura de estos datos. La muestra se compone de 27 historias clínicas, la edad promedio de las mujeres era de 50 años, casadas (59,6%), sin trabajar (70,4%), con educación primaria incompleta (70,4%), con una familia alcohólica (81,5%) y otros diagnósticos psiquiátricos (70,3%). Las pérdidas físicas, sociales y emocionales fueron los síntomas más comunes que resultan de síndrome de abstinencia de alcohol (66,7%), conflictos familiares (72%) y "tristeza" (79,2%). La violencia familiar se registró en 11 registros (40,7%). Hubo baja escolaridad, el desempleo, las comorbilidades psiquiátricas y la presencia de miembros de la familia con el abuso de alcohol como características comunes. Hacemos hincapié en la importancia del conocimiento profesional acerca de las peculiaridades del alcoholismo femenino para actividades de salud más eficaces.


Subject(s)
Adult , Aged , Female , Humans , Middle Aged , Alcoholism/epidemiology , Outpatients , Women , Alcohol-Related Disorders/psychology , Alcohol-Related Disorders/therapy , Alcoholism/genetics , Alcoholism/psychology , Alcoholism/therapy , Brazil/epidemiology , Comorbidity , Cross-Sectional Studies , Domestic Violence/statistics & numerical data , Educational Status , Emotions , Employment/statistics & numerical data , Family Health/statistics & numerical data , Hospitals, University , Marital Status/statistics & numerical data , Mental Disorders/epidemiology , Outpatient Clinics, Hospital , Outpatients/psychology , Outpatients/statistics & numerical data , Socioeconomic Factors , Women/psychology
7.
Biol. Res ; 45(1): 27-31, 2012. tab
Article in English | LILACS | ID: lil-626744

ABSTRACT

Although alcohol is known to be a carcinogen for humans, ethanol-genotoxicity studies are incomplete. Ethanol seems not to be a bacterial mutagen, but the results are conflicting in rodent assays. We investigate the genotoxicity in the bone marrow micronucleus (MN) test and in the dominant lethal mutation (DLM) assay using two long-term ethanol exposure protocols. In the MN test, mice consumed three doses (5, 10 and 15% v/v) for 32 weeks. MN induction was compared to two control groups of 5- and 38-week-old mice (the ages of the treated mice when the treatment was initiated and when they were killed, respectively). For the three groups treated with ethanol there was no significant increase in MN induction as compared to the first control group, but observed MN frequencies were significantly lower than in the 38-week-old control group. This suggests a protective effect against genotoxic damage caused by aging, probably due to ethanol action as a hydroxyl radical scavenger. In the DLM assay, male mice drank ethanol at 15% or 30% (v/v) for 20 weeks. In both groups the number of dead implants was similar to the control, but there was a significant reduction in total implants, indicating a pre-implantation loss.


Subject(s)
Animals , Female , Male , Mice , Alcoholism/genetics , Bone Marrow/drug effects , DNA , DNA Damage , Ethanol/toxicity , Mutation/drug effects , Disease Models, Animal , Genes, Dominant/drug effects , Genes, Lethal/drug effects , Germ Cells/drug effects , Micronucleus Tests , Mutagens/toxicity , Time Factors
8.
Braz. dent. j ; 23(1): 68-71, 2012. tab
Article in English | LILACS | ID: lil-618008

ABSTRACT

Considerable evidence indicates that serotonergic mechanisms, particularly the serotonin transporter, are involved in alcoholism and tobacco use and are influenced by polymorphism of the promoter region of 5HTT (5-HTTLPR). As alcohol and tobacco consumption have been implicated in the pathogenesis of oral cancer, the purpose of this study was to investigate 5-HTTLPR polymorphism in patients with oral squamous cell carcinoma (OSCC) compared with a control group in a sample of Brazilian patients. One hundred and three patients affected by OSCC and 103 volunteers without OSCC were genotyped for 5-HTTLPR. Both groups were matched for age, sex and tobacco use. The chi-squared test was used for statistical analysis (α=0.05). There was no statistically significant difference in 5-HTTLPR genotypes between case and control group (p= 0.408). In conclusion, the present investigation demonstrated that serotonin transporter polymorphisms are not implicated in the OSSC development.


Consideráveis evidências indicam que mecanismos serotoninérgicos, particularmente o transportador de serotonina, estão envolvidos no alcoolismo e no uso de fumo e são influenciados pelo polimorfismo da região promotora do 5HTT (5-HTTLPR). Como o consumo de álcool e fumo está implicado na patogênese do câncer, o objetivo deste estudo foi investigar o polimorfismo 5-HTTLPR em pacientes com carcinoma bucal de células escamosas (CBCE) comparado com um grupo controle em uma amostra de pacientes brasileiros. Cento e três pacientes afetados por CBCE e 103 voluntários sem história de CBCE foram genotipados para 5-HTTLPR. Ambos os grupos foram pareados pela idade, gênero e uso de fumo. O teste do qui-quadrado foi usado para análise estatística. Não houve diferença estatística entre os genótipos dos grupos caso e controle (p= 0,408). Concluindo, a presente investigação demonstrou que os polimorfismos do transportador de serotonina não estão implicados no desenvolvimento do CBCE.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Alcoholism/genetics , Mouth Neoplasms/genetics , Polymorphism, Genetic , Serotonin Plasma Membrane Transport Proteins/genetics , Smoking/genetics , Brazil , Case-Control Studies , Chi-Square Distribution , Genotype , Mouth Neoplasms/etiology , Polymerase Chain Reaction , Promoter Regions, Genetic
9.
J. bras. psiquiatr ; 60(1): 7-10, 2011. ilus, tab
Article in English | LILACS | ID: lil-581564

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the polymorphism Ile349Val of the enzyme alcohol dehydrogenase ADH1C gene among individuals with alcohol dependence syndrome (ADS) attending Alcoholics Anonymous (AA) meetings. METHODS: A total of 120 subjects residing in Rio de Janeiro city participated in this study. Subjects were divided into two groups: a group consisting of 54 individuals from the ADS group and 66 individuals that declared not having any alcohol dependence (control group). DNA was extracted from mouth epithelial cells by phenol-chloroform method and further submitted to amplification by polymerase chain reaction (PCR). RESULTS: Our results did not show differences between the genotypes of control individuals and ADS subjects. Nevertheless, we found increased rates of alcoholism in families of ADS subjects as compared to controls. CONCLUSIONS: Our results did not show any genotype difference on the ADH1C gene when control and AA genotypes are compared.


OBJETIVO: Investigar o polimorfismo Ile349Val do gene ADH1C da enzima álcool desidrogenase e a dependência de álcool em indivíduos frequentadores dos Alcoólicos Anônimos (AA). MÉTODOS: Um total de 120 pessoas residentes na cidade do Rio de Janeiro foi dividido em dois grupos: o primeiro foi formado por 54 pessoas com síndrome de dependência do álcool (SDA) pertencentes ao grupo dos AA. O segundo, com 66 pessoas, foi formado por indivíduos que descreveram não serem dependentes de álcool (grupo controle). O DNA foi extraído de células da mucosa oral utilizando-se a técnica do fenol-clorofórmio e posteriormente amplificado pela reação em cadeia pela polimerase (PCR). RESULTADOS: Nossos resultados não mostraram diferenças entre o genótipo dos indivíduos controle e aqueles do grupo SDA. A análise, entretanto, demonstrou uma significativa relação entre o grupo SDA e o histórico familiar de alcoolismo. CONCLUSÕES: Em nossos resultados não encontramos diferenças quanto ao genótipo ADH1C em indivíduos com SDA e controles.


Subject(s)
Humans , Male , Female , Alcohol Dehydrogenase , Alcohol-Related Disorders , Alcoholism/genetics , Alcoholism/psychology , Polymorphism, Genetic , Brazil , Surveys and Questionnaires , Polymerase Chain Reaction , Sex Distribution
10.
Braz. j. med. biol. res ; 43(3): 257-261, Mar. 2010. tab
Article in English | LILACS | ID: lil-539724

ABSTRACT

Alcohol dependence poses a serious medical and sociological problem. It is influenced by multiple environmental and genetic factors, which may determine differences in alcohol metabolism. Genetic polymorphism of the enzymes involved in alcohol metabolism is highly ethnically and race dependent. The purpose of this study was to investigate the differences, if present, in the allele and genotype frequency of alcohol dehydrogenase 1B (ADH1B), ADH1C and the microsomal ethanol-oxidizing system (MEOS/CYP2E1) between alcohol-dependent individuals and controls and also to determine if these genotypes cause a difference in the age at which the patients become alcohol dependent. The allele and genotype frequencies of ADH1B, ADH1C, and CYP2E1 were determined in 204 alcohol dependent men and 172 healthy volunteers who do not drink alcohol (control group). Genotyping was performed by PCR-RFLP methods on white cell DNA. ADH1B*1 (99.3 percent) and ADH1C*1 (62.5 percent) alleles and ADH1B*1/*1 (N = 201) and ADH1C*1/*1 (N = 85) genotypes were statistically more frequent among alcohol-dependent subjects than among controls (99.3 and 62.5 percent, N = 201 and 85 vs 94.5 and 40.7 percent, N = 153 and 32, respectively). Differences in the CYP2E1 allele and genotype distribution between groups were not significant. The persons with ADH1C*1/*1 and CYP2E1*c1/*c2 genotypes became alcohol dependent at a considerably younger age than the subjects with ADH1C*1/*2, ADH1C*2/*2 and CYP2E1*c1/*c1 genotypes (28.08, 25.67 years vs 36.0, 45.05, 34.45 years, respectively). In the Polish men examined, ADH1C*1 and ADH1B*1 alleles and ADH1C*1/*1 and ADH1B*1/*1 genotypes favor alcohol dependence. The ADH1B*2 allele may protect from alcohol dependence. However, subjects with ADH1C*1/*1 and CYP2E1*c1/*c2 genotypes become alcohol dependent at a considerably younger age than the subjects with ADH1C*1/*2, ADH1C*2/*2 and CYP2E1*c1/*c1 genotypes.


Subject(s)
Adolescent , Adult , Aged , Humans , Male , Middle Aged , Young Adult , Alcohol Dehydrogenase/genetics , Alcoholism/enzymology , /genetics , Polymorphism, Genetic/genetics , Age Factors , Alcoholism/genetics , Case-Control Studies , Genetic Predisposition to Disease , Genotype , Gene Frequency/genetics , Poland , Young Adult
11.
Physis (Rio J.) ; 17(2): 343-352, 2007.
Article in Portuguese | LILACS | ID: lil-467859

ABSTRACT

Analisamos os argumentos utilizados, em dois momentos diferentes do século XX, para justificar o recurso a explicações biológicas de condutas consideradas como socialmente indesejadas. Referimo-nos, inicialmente, aos estudos realizados pelos higienistas de início do século, cujas explicações estavam centradas no caráter orgânico e inato dos desvios, para continuar logo com os recentes estudos da neurociência que se propõem a localizar as condutas nas sinapses inadequadas e nas explicações referidas a deficiências químicas do cérebro.


The article analyzes the arguments used in two distinct moments of the 20th century, to justify the use of biological explanations for conducts considered as socially undesirable. Firstly we refer to studies of hygienists in the early century, whose explanation were centered on the organic and innate character of deviations, then we analyze the recent studies in the neurosciences which try to locate these conducts in inadequate synapses and in explanations related to chemical cerebral deficiencies.


Subject(s)
Genetic Determinism , Inheritance Patterns/ethics , Inheritance Patterns/physiology , Inheritance Patterns/genetics , Brain Chemistry/physiology , Brain Chemistry/genetics , Alcoholism/genetics , Alcoholism/pathology , Depression/genetics , Depression/pathology , Biological Factors/adverse effects , Psychiatry/ethics , Psychiatry/trends , Behavioral Symptoms/genetics , Behavioral Symptoms/pathology , Sociobiology/ethics , Sociobiology/trends , Brain Injuries, Traumatic/pathology
12.
Article in English | WPRIM | ID: wpr-47121

ABSTRACT

Family, twin, and adoption studies have demonstrated that genes play an important role in the development of alcoholism. We investigated the association between alcoholism and the genetic polymorphisms of the GABA(A) receptor genes on chromosome 5q33-34 in Korean population. The genotype of the GABA(A) receptor gene polymorphisms were determined by performing polymerase chain reaction genotyping for 172 normal controls and 162 male alcoholics who are hospitalized in alcoholism treatment institute. We found a significant association between the genetic polymorphisms of the GABA(A) alpha1 and GABA(A) alpha6 receptor gene and alcoholism. The GG genotype of the GABA(A) alpha1 receptor gene was associated with the onset age of alcoholism and alcohol withdrawal symptoms, and a high score on the Korean version of the ADS. However, there was no association between the genetic polymorphisms of the GABA(A) beta2 and gamma2 receptor gene and alcoholisms. Our finding suggest that genetic polymorphisms of the GABA(A) alpha1 and GABA(A) alpha6 receptor gene may be associated with the development of alcoholism and that the GG genotype of the GABA(A) alpha1 receptor gene play an important role in the development of the early onset and the severe type of alcoholism.


Subject(s)
Sequence Analysis, DNA , Receptors, GABA-A/genetics , Polymorphism, Genetic , Models, Statistical , Middle Aged , Male , Korea , Humans , Genetic Predisposition to Disease , DNA/metabolism , Chromosomes, Human, Pair 5 , Alcoholism/genetics , Age of Onset , Adult
13.
Article in English | IMSEAR | ID: sea-114442

ABSTRACT

High correlations between two quantitative traits may be either due to common genetic factors or common environmental factors or a combination of both. In this study, we develop statistical methods to extract the genetic contribution to the total correlation between the components of a bivariate phenotype. Using data on bivariate phenotypes and marker genotypes for sib-pairs, we propose a test for linkage between a common QTL and a marker locus based on the conditional cross-sib trait correlations (trait 1 of sib 1 - trait 2 of sib 2 and conversely) given the identity-by-descent (i.b.d.) sharing at the marker locus. We use Monte-Carlo simulations to evaluate the performance of the proposed test under different trait parameters and quantitative trait distributions. An application of the method is illustrated using data on two alcohol-related phenotypes from a project on the collaborative study on the genetics of alcoholism.


Subject(s)
Alcoholism/genetics , Chromosome Mapping , Environment , Humans , Models, Genetic , Monte Carlo Method , Phenotype , Quantitative Trait Loci
14.
Psiquiatr. salud ment ; 21(2/3): 139-142, abr.-sept. 2004. graf
Article in Spanish | LILACS | ID: lil-409764

ABSTRACT

En el presente estudio se evaluó un grupo de 50 pacientes en control regular en el Hospital de Ancud por alcoholismo cuyo principal objetivo fue determinar la existencia de algún patrón evaluativo el cual tuviera valor estadístico, y la diferencia de acuerdo a la presencia de familiares alcohólicos de primer orden. Resultados: Si bien el grupo es pequeño para poder construir un gráfico predictivo, la tendencia mostró algún patrón evaluativo de la historia natural de esta enfermedad, con diferencia de acuerdo tengan o no los pacientes, familiares alcohólicos de primer grado; de esta manera creemos que este patrón puede ser estimado en estudios asociativos en otras comunidades para determinar la real relación biológica en esta enfermedad.


Subject(s)
Humans , Male , Female , Alcoholism , Age Distribution , Alcoholism/genetics , Cross-Sectional Studies , Chile/epidemiology , Sex Distribution
15.
Rev. bras. psiquiatr ; 26(supl.1): SI54-SI58, maio 2004.
Article in Portuguese | LILACS | ID: lil-391089

ABSTRACT

Este artigo procura examinar a questão da herdabilidade na dependência do álcool. Através da revisão de estudos em famílias, em gêmeos e de adocão, encontramos evidências para afirmar a importância dos fatores genéticos na transmissão da vulnerabilidade a esta dependência. Essa transmissão pode ser melhor compreendida através de um modelo epigenético de desenvolvimento do transtorno, no qual condicões biológicas hereditárias associem-se a situacões ambientais ao longo da vida para a producão da dependência. Neste artigo, apresentamos essas condicões biológicas intermediárias vinculadas ao alto risco para dependência do álcool. Por fim, descrevemos os estudos moleculares que vêm estabelecendo associacões entre polimorfismos e a dependência do álcool, com relevo para o sistema dopaminérgico.


Subject(s)
Humans , Alcohol Drinking/genetics , Alcoholism/genetics , Adoption , Biomarkers , Genetic Predisposition to Disease , Phenotype , Twin Studies as Topic
16.
Psiquiatr. biol ; 7(2): 51-64, mar. 1999. tab, graf
Article in Portuguese | LILACS | ID: lil-255548

ABSTRACT

O termo alcoolismo refere-se aos sintomas que se desenvolvem a partir do consumo inadequado de álcool. Por ser o álcool a principal droga psicoativa utilizada no mundo, é de se esperar que o desenvolvimento da doença dependa da interaçäo entre fatores neurobiológicos e psicossociais. Diversos estudos têm mostrado que o alcoolismo é mais frequente nas famílias de alcoolitas do que na populaçäo em geral. Entretanto, além das influências genéticas, os fatores ambientais também säo responsáveis pela agregaçäo familiar observada, caracterizando, assim, uma herança multifatorial. A subdivisäo do alcoolismo nos tipos 1 e 2 tem permitido uma melhor compreensäo da doença do ponto de vista etiopatogênico e uma melhor abordagem da mesma. Apesar das diferenças metodológicas, a grande maioria dos estudos familiares sugere que os fatores säo muito importantes na determinaçäo do alcoolismo. Já foram identificados os seguintes fatores predisponentes ao alcoolismo: o alelo A1 do gene do receptor de dopammina DRD2, a reduçäo da atividade da MAO-B plaquetária, e a reduçäo da amplitude da onda P300 nos ERPs. Também evidenciou-se que uma anomalia da enzima transcetolase predispöe à Síndrome de Wernicke-Korsakoff. Além disto, foram identificados fatores protetores à doença, como a presença dos alelos ADH2*2 e ALDH2*2 dos genes das enzimas álcool desidrogenase, rspectivamente. Apesar da identificaçäo desses fatores associados ao alcoolismo, pouco ainda se sabe sobre o modo pelo qual eles interagem entre si e, portanto, muitos estudos ainda seräo necessários para um melhor esclarecimento do assunto


Subject(s)
Humans , Male , Female , Alcoholism/classification , Alcoholism/genetics , Alcoholism/pathology , Alcoholism/psychology , Receptors, Dopamine D2/genetics , Transketolase/genetics
17.
Salud ment ; 22(1): 46-51, ene.-feb. 1999. tab
Article in Spanish | LILACS | ID: lil-254576

ABSTRACT

El desarrollo de modelos animales y de técnicas especializadas para estudiar las funciones neuronales, así como los estudios sobre el comportamiento, la fisiología y los efectos neurológicos del uso del alcohol en humanos, han ampliado nuestro conocimiento sobre los procesos del abuso, la tolerancia y la dependencia física del alcohol. El alcohol, así como otras drogas de abuso, ejerce sus acciones a través del mecanismo de reforzamiento positivo y negativo, las cuales están relacionadas con una variedad de estados subjetivos, que van desde sensaciones placenteras hasta la euforia, o con efectos de relajación. Los mecanismos de reforzamiento positivo del alcohol han sido estudiados en varios modelos experimentales. El desarrollo de líneas de roedores seleccionada genéticamente para manifestar diferentes preferencias por la sustancia, ha sido de particular utilidad para identificar algunos de los sustratos neuronales y de los sistemas de neurotransmisores implicados. Las propiedades reforzadoras del alcohol pueden contribuir de manera importante en los procesos biológicos que llevan a un consumo inicial, la ingesta continua, al abuso de la sustancia y, en eventualmente, al desarrollo de una dependencia de la droga. Se ha sugerido que esto ocurre a través de la activación de circuitos neuronales específicos, conocidos como mecanismos cerebrales neuronales específicos, conocidos como mecanismos cerebrales de recompensa y reforzamiento positivo. El sistema dopaminérgico mesolímbico juega un papel crucial en estos mecanismos. Los efectos reforzadores del alcohol sobre esta vía neural han sido estudiados mediante el procedimiento experimental conocido como estimulación cerebral de recompensa (ECR). El alcohol aumenta la tasa de auto-estimulación del animal y disminuye el umbral de la corriente eléctrica, facilitando así la ejecución de la ECR. Por otra parte, las dosis bajas de alcohol aumentan la actividad motora espontánea, mientras que las dosis altas la reducen...


Subject(s)
Animals , Rats , Alcoholism/genetics , Behavior, Animal/drug effects , Causality , Cerebrum/drug effects , Alcohol Drinking/adverse effects , Disease Models, Animal , Substance-Related Disorders/etiology , Substance-Related Disorders/psychology
18.
Inf. psiquiatr ; 14(2): 53-9, abr.-jun. 1995.
Article in Portuguese | LILACS | ID: lil-156012

ABSTRACT

O autor fez uma revisäo da transmissäo genática da propensäo ao abuso de drogas através de estudos de vários autores, de referência. Os trabalhos säo lastreados em experiências feitas em animais. Evidências do mesmo fenômeno säo encontradas em seres humanos. Outra linha de trabalho que mostra, igualmente, evidência da transmissäo genética do abuso de drogas säo os estudos feitos pela técnica dos gêmeos, da adoçäo de fatores de risco em famílias, da contribuiçäo da Síndrome de Gilles de la tourette, da morbidade ADHD e dos estudos em herditariedade do alcoolismo


Subject(s)
Humans , Animals , Male , Female , Mice , Rabbits , Rats , Substance-Related Disorders/genetics , Alcoholism/genetics
19.
Rev. psiquiatr. clín. (São Paulo) ; 22(1): 11-8, mar. 1995.
Article in Portuguese | LILACS | ID: lil-154772

ABSTRACT

Neste trabalho, a autora discorre, sobre o processo de adocao, as pesquisas sobre as formas de transmissao dos disturbios psiquiatricos, principalmente do alcoolismo, com participacao de filhos adotivos, e discute, a partir dos dados de literatura, os fatores que possam contribuir para o inicio e a instalacao do alcoolismo.


Subject(s)
Humans , Male , Female , Adoption/psychology , Alcoholism/psychology , Alcoholism/genetics , Psychophysiologic Disorders/psychology
20.
Inf. psiquiatr ; 14(1): 5-12, jan.-mar.1995. tab
Article in Portuguese | LILACS | ID: lil-154207

ABSTRACT

Alguns estudos têm demonstrado diferenças significantes entre alcoólicos com um histórico familiar positivo para alcoolismo (HFP) e aqueles com histórico familiar negativo para alcoolismo (HFN), e que um passado de história familiar de alcoolismo pode influenciar o curso e a gravidade da doença. Tendo em vista a escassez deste tipo de investigaçäo neste País, decidimos levar a cabo uma pesquisa, coletando dados de uma amostra de 110 alcoolistas de 6 diferentes instituiçöes do Rio de Janeiro, de ambos os sexos, faixa etária e nível sócio-econômico diversos. Usando um questionário como instrumento, reunimos informaçöes sobre o histórico familiar para alcoolismo, hábitos de bebida e consumo de álcool, assim como dados sobre a idade do início do beber e do aparecimento dos primeiros problemas com a bebida, sexo, educaçäo e ocupaçäo dos testandos. Em nosso estudo encontramos 68 indivíduos com histórico familiar positivo para alcoolismo e 42 sem tal antecedente. Análises estatísticas dos dois grupos mostraram que o grupo HFP apresentou formas mais graves de dependência. As variáveis demográfica e social, a idade do início do beber e a idade dos primeiros problemas com a bebida näo diferiram significativamente entre os dois grupos. Pesquisas futuras com outros grupos de risco para alcoolismo podem ajudar a lançar luz sobre os vários e complexos aspectos da dependência do álcool


Subject(s)
Humans , Male , Female , Alcoholism/genetics , Alcohol Drinking/genetics , Age Factors , Alcoholism/epidemiology , Alcoholism/psychology , Alcohol Drinking/epidemiology , Alcohol Drinking/psychology , Family , Surveys and Questionnaires , Risk Factors , Sampling Studies , Sex Factors , Socioeconomic Factors
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