Heike Wolf

The relationship between Eysenck's P-E-N model of personality, the five-factor model of personality, and traits delineating personality dysfunction

Abstract Multiple regression and principal components analysis was used to (1) identify the traits of normal personality function represented in personality dysfunction, (2) clarify what aspects of the personality domain are in common and are unique to three and five factor models of personality, and (3) assess the relative predictive validity of the EPQ-R to the NEO-PI-R in the assessment of personality dysfunction. Three hundred and thirty two general population subjects completed the NEO-PI-R, the EPQ-R, and a measure of personality disorder: the Dimensional Assessment of Personality Pathology (DAPP-BQ). Neuroticism defined a factor describing emotional dysregulation, a central feature in the diagnosis of Borderline Personality Disorder. Measures of extraversion defined a factor describing levels of inhibition, a core component to the diagnosis of Schizoid and Avoidant Personality Disorder. NEO-PI-R Conscientiousness was found to reflect key concepts in the diagnosis of Obsessive-Compulsive Personality Disorder and NEO-PI-R Agreeableness defined a factor describing psychopathy. EPQ-R Psychoticism loaded on a separate factor describing conduct problems. Multiple regression analyses showed that the EPQ-R accounts for a significant proportion of the variance in each DAPP-BQ scale, (R2Adjusted range=6–43%; median=21%). Addition of the five NEO-PI-R scales was shown to increase the amount of variance accounted for, in most cases significantly (change in R2Adjusted range: 2–58%, median change=26%).

German Observational Study of Adult Twins (GOSAT): a multimodal investigation of personality, temperament and cognitive ability.

The German Observational Study of Adult Twins (GOSAT) is the largest population-based observational twin study in Germany to date. Embedded in the Bielefeld Longitudinal Study of Adult Twins (BiLSAT), it addresses the etiology of personality, temperament and cognitive ability in a sample of 300 monozygotic (MZ) and dizygotic (DZ) adult twin pairs between 18 and 70 years of age. A major aim of the GOSAT lies in the utilization of different modes of measurement, (i.e., peer reports and observational data), in addition to self-reports which have been used predominantly in past behavioral genetic research on personality and temperament in adults. Participants completed a full day assessment at the University of Bielefeld including videotaped social interactions and presentations, psychometric intelligence tests and computerized elementary cognitive tasks as well as objective measures and unobtrusive behavior counts. The research design of the GOSAT was devised to reduce the potential impact of systematic rater bias on estimates of genetic and environmental influences to a minimum. In combination with extensive self- and peer report data on key personality and personality related dimensions available from the BiLSAT, the GOSAT provides a rich dataset, which currently includes DNA samples from 80% of its participants.

Psychosocial adversity and emotional instability: an application of gene–environment interaction models

A central idea in personality theory is that events in childhood have an effect on the development of personality. The present study applied models of gene–environment interaction that demonstrate how environmental conditions may moderate genetic variability in a population and/or the influence of other environmental effects. Results showed that perceived levels of family conflict and maternal indulgence moderated the genetic influences underlying emotional instability, a central feature of borderline personality disorder. The analyses identified a wide variety of environmental influences that moderate the variability in the liability to emotional instability, such as perceived levels of parental bonding, family functioning, and exposure to nonassaultive traumatic events. Copyright

CoSMoS and TwinPaW: initial report on two new German twin studies.

After briefly recapitulating two earlier German twin studies (BiLSAT and GOSAT), we present two new German twin studies with a longitudinal perspective: CoSMoS and TwinPaW. The twin study on Cognitive ability, Self-reported Motivation and School performance (CoSMoS) aims to investigate predictors and influences of school performance in a genetically sensitive design, beginning with children in late elementary school. The Twin study on Personality And Wellbeing (TwinPaW) focuses on adult personality and its relation to physical health as well as health-related behavior in an adult sample of twins. Both studies are characterized by an effort to recruit new large twin samples through a novel recruitment procedure aimed at reducing self-selective sampling. In two German federal states, contact information on persons born on the same day and with the same name was retrieved from record sections. From the resulting pool of more than 36,000 addresses we contacted approximately 2000 parents of twins aged 9 and 10 for CoSMoS, as well as 2000 adult twin pairs for TwinPaW by telephone and mail. Personal contact by telephone proved to be more efficient with agreement rates of 63% in the children sample and 65% in the adult sample. In this article we briefly describe the rationale and the study aims of CoSMoS and TwinPaW as well as the characteristics of the sample we have recruited so far.

Kaede for Detection of Protein Oligomerization

Photoconvertible fluorescent proteins such as Kaede are routinely used for tracking proteins, organelles, and whole cells. Kaede was the first identified photoconvertible fluorescent protein and has since become the most commonly used photoconvertible fluorescent protein in vertebrates. Kaede can be irreversibly converted from a green to a red fluorescent form upon UV/blue light irradiation and fluorescence of each form can be isolated separately by appropriate filter sets. Spectral properties of the Kaede forms allow Förster resonance energy transfer (FRET) from the green form as donor to the red form as acceptor. As a sample containing oligomerized Kaede-containing proteins is exposed to UV or blue light, FRET first increases as green Kaede is converted to red and then decreases as the green donor becomes depleted. Thus, FRET information is potentially obtained from a number of independent measurements taken as photoconversion proceeds. We demonstrate here the application of this approach to detect homo-aggregation and conformational dynamics of plant protein constructs. Structural alterations of 2-cys peroxiredoxin–Kaede were successfully detected depending on the redox state in living plant cells. Photoconversion was performed gradually and donor emission, acceptor emission, and FRET-derived sensitized acceptor emission were measured at each step of conversion. Since photoconvertible proteins have not been routinely used in plants, two plasmids have been designed to facilitate plant applications. The plasmids allow either transient expression of Kaede-containing protein constructs in plant cells or Gateway cloning and stable transformation of plants.

Genetic and environmental influences on objectively assessed activity in adults

We objectively assessed motor activity level in a community sample of 300 adult monozygotic and dizygotic twin pairs as part of the German Observational Study of Adult Twins (GOSAT). The participants carried motion recorders (actometers) over a period of approximately 6 h to assess limb movements while engaging in a variety of tasks. Behavioral genetic analyses of an actometer composite score (ACS) suggested moderate genetic influence (a 2 =0.40) and no shared environmental influences on this objective measure of activity. Furthermore, ACS showed small to moderate meaningful and significant relations to several activity-related temperament dimensions assessed via self- and peer reports. Aseries of bivariate analyses yielded mixed results with regard to genetic and environmental influences on the covariation between objectively assessed activity and self-reported temperament. # 2002 Elsevier Science Ltd. All rights reserved.

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

ABSTRACT Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here, we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was disrupted by gene targeting. Homozygous knockout mice completely lack α-L-fucosidase activity in all tested organs leading to highly elevated amounts of the core-fucosylated glycoasparagine Fuc(α1,6)-GlcNAc(β1-N)-Asn and, to a lesser extent, other fucosylated glycoasparagines, which all were also partially excreted in urine. Lysosomal storage pathology was observed in many visceral organs, such as in the liver, kidney, spleen and bladder, as well as in the central nervous system (CNS). On the cellular level, storage was characterized by membrane-limited cytoplasmic vacuoles primarily containing water-soluble storage material. In the CNS, cellular alterations included enlargement of the lysosomal compartment in various cell types, accumulation of secondary storage material and neuroinflammation, as well as a progressive loss of Purkinje cells combined with astrogliosis leading to psychomotor and memory deficits. Our results demonstrate that this new fucosidosis mouse model resembles the human disease and thus will help to unravel underlying pathological processes. Moreover, this model could be utilized to establish diagnostic and therapeutic strategies for fucosidosis. Summary: The fucosidosis mouse model aids understanding of general pathophysiological mechanisms underlying α-L-fucosidase deficiency and is urgently required to establish therapeutic approaches.

Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice

Fucosidosis is a lysosomal storage disorder (LSD) caused by lysosomal α-L-fucosidase deficiency. Insufficient α-L-fucosidase activity triggers accumulation of undegraded, fucosylated glycoproteins and glycolipids in various tissues. The human phenotype is heterogeneous, but progressive motor and cognitive impairments represent the most characteristic symptoms. Recently, Fuca1-deficient mice were generated by gene targeting techniques, constituting a novel animal model for human fucosidosis. These mice display widespread LSD pathology, accumulation of secondary storage material and neuroinflammation throughout the brain, as well as progressive loss of Purkinje cells. Fuca1-deficient mice and control littermates were subjected to a battery of tests detailing different aspects of motor, emotional and cognitive function. At an early stage of disease, we observed reduced exploratory activity, sensorimotor disintegration as well as impaired spatial learning and fear memory. These early markers of neurological deterioration were related to the respective stage of neuropathology using molecular genetic and immunochemical procedures. Increased expression of the lysosomal marker Lamp1 and neuroinflammation markers was observed throughout the brain, but appeared more prominent in cerebral areas in comparison to cerebellum of Fuca1-deficient mice. This is consistent with impaired behaviors putatively related to early disruptions of motor and cognitive circuits particularly involving cerebral cortex, basal ganglia, and hippocampus. Thus, Fuca1-deficient mice represent a practical and promising fucosidosis model, which can be utilized for pathogenetic and therapeutic studies.