[Biogenesis and evolution of pathological behavior].
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The behaviour of spontaneously hypertensive rats (SHR strain), rats with inherited stress induced arterial hypertension (ISIAH, a new developed strain), and of their normotensive Wistar progenitors was studied. The open-field arena and a device for measuring the total activity in the home cage were used in the behavioural studies. The SHR were much more active in the open--field and home cage tests than the Wistar and ISIAH rats. The basal locomotor activity of the ISIAH strain was lower than that of the Wistar rats, but the ISIAH strain had an index of behavioural reactivity 2.7 fold higher than the Wistar or SHR strains. These behavioural characteristics corresponded to the hypertension patterns of the strains compared. Enhanced spontaneous locomotion of the SHR rats was associated with spontaneous increase in arterial blood pressure. The ISIAH rats showed low spontaneous locomotor activity, but high behavioural and blood pressure reactivity under conditions of mild emotional stress.
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New discoveries from genetic research may benefit children through increased knowledge of genetic causes of diseases, and new methods of diagnosis and treatment including presymptomatic diagnoses, carrier diagnoses, and gene therapy. However, these discoveries are also creating ethical, legal, and social dilemmas regarding children's health. Inaccurate interpretation of carrier test results, a limited understanding of implications of genetic information, emotional implications of testing, and potential insurance denials are examples. Ways in which pediatric nurses will apply knowledge of genome research in their practice include: education, counseling, advocacy, clarification of values and feelings, and referral for information, support, and assistance.
This article explores the potential impact upon people with disability of some of the technological information being uncovered by the Human Genome Project. While the project has been promoted as promising positive benefits to society, its effect, in our present values climate, is potentially damaging. While we can map impairment, we cannot, as yet, cure it. And, in a society which embraces values such as utilitarianism and economic rationalism, we are choosing more and more to eliminate rather than care. We are seeing a conceptual transformation--the geneticization of self--which has enormous implications for the lives of people with disability. The author argues that scientific endeavor, which has been constructed as occurring within a culture of impartiality and empiricism, actually operates within an uncontested value base which devalues disability. She concludes that the Human Genome Project needs to be reframed within a broadened ethical framework of inclusion.
Nicotine is the primary addictive compound in tobacco smoke. In this review we summarize nicotine dependence and the genetics of smoking in brief before focusing on cytochrome P450 (CYP) 2A6. In humans nicotine is mainly inactivated to cotinine and CYP2A6 mediates approximately 90% of this conversion. Some, but not all, studies suggest that genetic variation in CYP2A6 may play a role in smoking. We review some of the recent findings on the influence of CYP2A6 genetic polymorphisms on nicotine kinetics, smoking behaviors, and how the gene appears to exert differential effects during various stages of smoking (eg, initiation, conversion to dependence, amount smoked during dependence, and quitting). These new findings will be put in the context of the discrepancies found in the literature. Implications of these recent findings on current and novel treatment approaches for smoking cessation and tobacco-related lung cancer will also be discussed.
A genetic susceptibility to suicide attempts has been repeatedly suggested by family-, twin-, and adoption-studies. Because elevated impulsive aggression is one of the most prominent characteristics of suicide attempters and aggressive behavior has been reported in 5-HT1B receptor gene knockout mice, the serotonin receptor 1B gene (5-HT1B) is an attractive candidate. The distribution of a polymorphism (G861C) in the 5-HT1B gene was examined in 148 consecutively hospitalized German suicide attempters, and 327 German healthy volunteers randomly recruited from the general population. The controls and their first degree relatives had no history of mental disorders or suicidal behavior. We found no significant difference in allele or genotype frequency between patients and controls. The results did not differ when the patients were divided into several subgroups (gender, suicide attempters with a violent method or suicide attempters with unipolar-, bipolar-, borderline personality-, and schizophrenia spectrum disorders). These findings suggest that the 5-HT1B polymorphism is unlikely to play a major role in the genetic susceptibility to suicide attempts.
We investigated the etiology of six problem behaviors that might facilitate an understanding of behavioral pathways to substance use and abuse in adolescents. These behavioral measures, classified as Conduct Problems, Hyperactivity, School Problems, Low Self-esteem, Neuroticism, and Social Withdrawal were the result of a previously reported (Siewert et al., 2003) modification of the Drug Use Screening Inventory (DUSI; Tarter, 1990; Tarter & Hegedus, 1991). We developed these measures as interpretable components of risk for substance use and abuse in a community based sample of 633 twin pairs, who were under the legal drinking age of 21 (mean age = 15.0 years). Using multivariate analyses, model comparisons indicated that these six behavioral measures could be thought of as two heritable, and genetically distinct, dimensions of problem behavior. Two closely competing models resulted from our analyses. The best fitting model hypothesized a general genetic factor loading on all 6 behavioral measures with a second genetic factor loading on only the three internalizing behavioral measures with loadings of 0.25-0.59 and 0.26-0.44, respectively. A second model, which fit the data almost as well, hypothesized one genetic factor loading only on the externalizing behavioral measures, and a second genetic factor loading only on the internalizing behavioral measures, with a correlation between the two latent factors of 0.75. Because our analyses show that there are two genetically distinct factors influencing these six problem behaviors, we anticipate that there may be different patterns of relationship of these factors to risk for substance use, abuse, and dependence.
The influence of matrilineal kinship on four socially affiliative behavior patterns--grooming, contact, proximity, and play--was studied in a little-known primate species, the Celebes black ape (Macaca nigra). Twenty group-living black apes, comprising four genealogical groups, were observed for more than 100 hr; data were collected by the instantaneous scan technique. Animals spent more time than was expected by chance grooming, in contact with, and in proximity to their matrilineal relatives, but they did not play with relatives more than was expected. The proximal mechanisms responsible for these results are unknown, and increased familiarity among matrilineal relatives may have influenced the interaction patterns in the group. The results obtained in this study are similar to those of many others that demonstrate differential behavior toward kin, and they are consistent with the theory that animals may increase their inclusive fitness by interacting preferentially with relatives.
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BACKGROUND: Little is known about the stability of obsessive-compulsive (OC) behavior during childhood. The objective of this study is to determine the developmental stability of pediatric OC behavior and the genetic and environmental influences on stability in a large population-based twin sample. METHODS: Maternal and paternal ratings on the 8-item Obsessive Compulsive Scale of the Child Behavior Checklist (CBCL-OCS) on Dutch mono- and dizygotic twin pairs from 8083 families were collected at ages 7, 10, and 12 years. Using a longitudinal twin design, stability of OC behavior and genetic and environmental influences on stability were determined. Using cutoff criteria, persistent, resilient, and new onset cases were identified in this sample. RESULTS: OC behavior assessed by the CBCL-OCS showed a moderate stability with phenotypic correlations of around .50 for boys and for girls. Stability of OC behavior was influenced by genetic factors, by environmental factors shared by children growing up in the same family, and by non-shared environmental factors. Stability for OCS was lower when categorical data were analyzed than when quantitative definitions were used. CONCLUSIONS: OC behavior is moderately stable in childhood. Stability of OC behavior is influenced by genetic, shared, and non-shared environmental factors.