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PubMed1993

Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.

The inherited disease Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT), is characterized by behavioural alterations, including self-injurious behaviour and mental retardation. Although HPRT-deficient mice have been generated using the embryonic stem cell system, no spontaneous behavioural abnormalities had been reported. We examined whether mice were more tolerant of HPRT deficiency because they were more reliant on adenine phosphoribosyltransferase (APRT) than HPRT for their purine salvage. The administration of an APRT inhibitor to HPRT-deficient mice induced persistent self-injurious behaviour. This combined genetic and biochemical model will facilitate the study of Lesch-Nyhan syndrome and the evaluation of novel therapies.

Adenine↗
PubMed2005

Stress and the brain: from adaptation to disease.

In response to stress, the brain activates several neuropeptide-secreting systems. This eventually leads to the release of adrenal corticosteroid hormones, which subsequently feed back on the brain and bind to two types of nuclear receptor that act as transcriptional regulators. By targeting many genes, corticosteroids function in a binary fashion, and serve as a master switch in the control of neuronal and network responses that underlie behavioural adaptation. In genetically predisposed individuals, an imbalance in this binary control mechanism can introduce a bias towards stress-related brain disease after adverse experiences. New candidate susceptibility genes that serve as markers for the prediction of vulnerable phenotypes are now being identified.

Adaptation, Physiological↗
PubMed2001

Lack of genetic differentiation among widely spaced subpopulations of a butterfly with home range behaviour.

We examine seven geographically separate subpopulations of Heliconius charithonia, a butterfly with well-documented home range behaviour, in Miami-Dade County, Florida, for genetic differentiation using cellulose acetate electrophoresis. These subpopulations exhibit little genetic variation (percent polymorphic loci = 27, average heterozygosity = 0.103) especially in comparison to populations of the same and related species from mainland South America. Allele frequencies do not differ among the subpopulations in south Florida and estimates of Wright's fixation index (FST) support that there is no detectable genetic differentiation among them. This result supports an earlier finding that the dispersal ability of Heliconius butterflies may be underestimated. However, it is unlikely that increased dispersal ability alone could account for the lack of genetic differentiation observed among subpopulations separated by almost 80 km. Given the likely effective population size of these subpopulations (Ne = 205) and the average generation time of this species in the subtropics (in the range of 30-90 days), this lack of genetic differentiation is best explained by current or very recent gene flow following a stepping-stone model. Furthermore, this result provides evidence that the current extensive degree of habitat fragmentation surrounding the city of Miami does not limit gene flow among urban subpopulations of Heliconius charithonia.

Alleles↗
PubMed2002

An analysis of systems of classifying mild cognitive impairment in older people.

OBJECTIVE: Over the past two decades, a number of systems have been developed for the classification of cognitive and behavioural abnormalities in older people, in order that individuals at high risk of developing neurodegenerative disease, particularly Alzheimer's disease, may be identified well before the disease manifests clinically. This article critically examines the inclusion and exclusion criteria of a number of such classification systems, to determine the effect that variations in criterion may have on clinical, behavioural and neuroimaging outcomes reported from older people with mild cognitive impairment. METHOD: Qualitative review of the literature describing systems of classifying mild cognitive impairment, and outcomes from clinical, behavioural, neuroimaging and genetic studies of older people with mild cognitive impairment. RESULTS: The exclusion and inclusion criteria for these classification systems vary markedly, as do the design of studies upon which the validity of these systems has been assessed. Minor changes to individual exclusion/inclusion criterion may result in substantial changes to estimates of the prevalence and clinical outcome of mild cognitive impairment, while inadequate experimental design may act to confound the interpretation of results. CONCLUSIONS: As a result of these factors, accurate and consistent estimates of the outcome of mild cognitive impairments in otherwise healthy older people are yet to be obtained. On the basis of this analysis of the literature, optimal criteria via which accurate classifications of mild cognitive impairment can be made in future are proposed.

Aged↗
PubMed2000

[Smoking and periodontal health].

The causal agents of destructive periodontal disease are several gram-negative bacteria. The mere presence, however, in the dental biofilm does not guarantee onset of the disease. The immunological and inflammatory host response as well as connective tissue and bone metabolism are strongly influenced by genetic, acquired and behavioural risk factors. Among the last, tobacco consumption holds a primary position. Prevalence, extent and severity of periodontitis as well as tooth loss and edentulism are influenced by tobacco consumption in a dose-dependent manner. About 50% of periodontal disease in young adults is attributable to cigarette smoking. Postoperative results in periodontally diseased smokers are considerably poorer than those achieved in non-smokers. As a consequence smoking cessation has to be in corporated in traditional treatment concepts for inflammatory periodontal disease.

Adult↗
PubMed2002

Inadequate leptin level negatively affects body fat loss during a weight reduction programme for childhood obesity.

UNLABELLED: Obesity is a typical example of a complex multifactorial disease arising from behavioural, environmental and genetic factors that may affect individual responses to dietary intake and physical activity. Observational, longitudinal dietary interventional studies in obese patients present contrasting reports on the predictive value of baseline leptin levels. We report on the effect of a weight reduction programme in three different groups of obese children (82 patients in all) assembled on the basis of their baseline leptin levels adjusted for body mass index (BMI), gender and pubertal development. The effectiveness of this programme was decreased in patients with relative hyperleptinaemia or hypoleptinaemia compared to children with baseline leptin levels appropriate to BMI gender and pubertal development. CONCLUSION: Information gained from leptin assays could provide predictive insight into an individual's ability to lose body fat and may therefore have important implications for our approach to the treatment and prevention of childhood obesity.

Adolescent↗
PubMed2004

Researching psychiatry in Western Australia.

OBJECTIVE: To provide an overview of the development, approaches and main research projects of the Centre for Clinical Research in Neuropsychiatry (CCRN) in Perth, Western Australia. METHOD: Discursive. RESULTS: Underlying concepts, methods and selected findings of recent research into the neurobiology and epidemiology of schizophrenia, autism and other psychotic disorders are presented. CONCLUSION: CCRN, one of Australia's youngest centres of psychiatric research, has invested fruitfully in research areas such as molecular genetics, neuropsychology, neurophysiology, behavioural pharmacology, diagnostic assessment procedures and record linkage epidemiology.

Adult↗
PubMed1998

An analysis of the geographical distribution of severe malaria in children in Kilifi District, Kenya.

BACKGROUND: Although malaria is known to be a major cause of child mortality and morbidity throughout sub-Saharan Africa there are few detailed studies of malaria mortality rates and incidence of severe malarial disease in defined communities. We have studied the geographical pattern of admissions to hospital with severe malaria and the stability of this pattern over time in Kilifi District on the Kenyan Coast. METHODS: Over a 2-year period all children under 5 years of age with severe malaria admitted to the district hospital and living in a rural study population of about 50,000 people were identified. Annual censuses were carried out in the study area, and all households were mapped using a hand-held satellite navigation system. The resulting databases were linked using a geographical information system (GIS). RESULTS: Using methods originally developed for the study of the geographical distribution of childhood leukaemia we assessed the spatial pattern of hospital admission rates for severe malaria. As expected, admission rates were significantly higher in children with easier access to the hospital. For example, those living more than 25 km from the hospital had admission rates which were about one-fifth of those for children living within 5 km of the hospital. Those living more than 2.5 km from the nearest road had admission rates that were about half of those for children living within 0.5 km of a road. We also investigated short-term local fluctuations in severe malaria and found evidence of space-time clustering of severe malaria. CONCLUSIONS: Hospital admission rates for severe malaria are higher in households with better access to hospital than in those further away. The finding of space-time clusters of severe malaria suggests that it would be of value to conduct case-control studies of environmental, genetic and human behavioural factors involved in the aetiology of the disease.

Animals↗
PubMed2004

Within-person variation in serum lipids: implications for clinical trials.

BACKGROUND: Little is known about the degree to which behavioural, biological, and genetic traits contribute to within-person variation in serum cholesterol. Materials and Methods The authors studied within-person variation in serum total and high density lipoprotein (HDL) cholesterol in 458 participants of 27 dietary intervention studies in Wageningen, The Netherlands, from 1976 to 1995. RESULTS: For a median of 4 days between blood draws, the geometric mean of the within-person standard deviation was 0.13 mmol/l ( approximately 5 mg/dl, coefficient of variation = 3.0%) for total cholesterol and 0.04 mmol/l ( approximately 1.5 mg/dl, coefficient of variation = 3.0%) for HDL cholesterol. In mixed-model linear regressions using within-person variance as the dependent variable and including lipid concentration and covariates listed below, within-person variance of both total cholesterol and HDL cholesterol was higher for greater number of days between blood draws and for self-selected diet rather than investigator-controlled diet. Within-person variance of total cholesterol only was higher for non-standardized versus standardized phlebotomy protocol and for female sex. The authors found evidence that the APOA4 -347 (12/22 genotype) and MTP -493 (11 genotype) polymorphisms may increase the within-person variation in total cholesterol. CONCLUSION: Under certain study design (self-selected diet, use of non-standardized phlebotomy protocol) or participant characteristics (female, certain polymorphisms) within-person lipid variance is increased and required sample size will be greater. These findings may have important implications for the time and cost of such interventions.

Adult↗
PubMed2003

The electrophysiology of migraine.

PURPOSE OF REVIEW: The pathophysiology of migraine is far from being understood. Electrophysiological methods are useful to investigate peripheral and central mechanisms underlying this disorder. The purpose of this review is to highlight the results of electrophysiological studies published during the last year and to examine their added value to our previous knowledge. RECENT FINDINGS: Studies by visual and auditory evoked potentials and event-related responses suggested that lack of habituation is the principal interictal abnormality of sensory processing in migraineurs. Recently confirmed for somatosensory and laser-evoked cortical potentials and for brainstem responses, it is also responsible for the increased intensity dependence of auditory evoked potentials. This abnormality is possibly caused by a reduced cortical preactivation level due to hypofunctioning subcortico-cortical aminergic pathways. Although studies of cortical excitability by transcranial magnetic stimulation have yielded conflicting results, results obtained using habituation of pattern-reversal visual evoked potentials to explore cortical excitability changes induced by repetitive transcranial magnetic stimulation strongly favour the hypothesis that migraine is characterized by a decreased level of preactivation excitability. With regard to pain mechanisms in migraine, electrophysiological studies of trigeminal pathways using nociceptive blink and corneal reflexes have confirmed that sensitization of central trigeminal nociceptors occurs during the attack, and may even persist interictally. SUMMARY: Scientific publications over the last year confirmed that electrophysiological methods are particularly suited to unravelling some of the pathophysiological mechanisms of migraine. To improve their future contribution, they need to be better standardized and to be correlated with behavioural, metabolic and genetic studies.

Brain Stem↗
PubMed1996

First gene on the avian W chromosome (CHD) provides a tag for universal sexing of non-ratite birds.

The avian W chromosome shares many features with the mammalian Y chromosome: it is small, mostly heterochromatic, and filled with large repetitive arrays. No gene so far been assigned to the W chromosome in any bird species and, as a practical consequence, a general tag for avian gender identification on the molecular level is lacking. Here I describe the isolation of a chicken homologue to the mouse chromo-helicase-DNA binding (CHD) gene which encodes a protein involved in global regulation of transcriptional activation on the chromatin level. The avian CHD gene exists in two genomic copies, one of which termed CHD-W) was located on the W chromosome in all non-ratio species investigated. The gene displays extreme levels of sequence conservation since chicken CHD-W and mouse CHD are 82.9% and 95.6% identical at the nucleotide and amino acid level respectively. Molecular sexing can be accomplished in probably all non-ratite birds by hybridizing Southern blots with CHD probes, PCR-based gender identification is also demonstrated. A general system for avian sexing should facilitate many studies of behaviour, evolutionary ecology, genetics, and evolution.

Animals↗
PubMed2004

Behavioural interactions, kin and disease susceptibility in the bumblebee Bombus terrestris.

Behavioural interactions are often analysed in terms of their costs and benefits to the actors [Hamilton, (1964) J. Theor. Biol.7 1-16; Gadagkar, (1993) Trends Ecol. Evol.8 232-234; Foster et al., (2001) Ann. Zool. Fenn.38 229-238]. Using the bumblebee Bombus terrestris, we wish to distinguish between two possible determinants of interaction behaviour between conspecifics, namely kin-directed behaviour that reflects genetic distance between individuals, or, alternatively, interactions guided by a functional distance between individuals, specifically, with respect to disease susceptibility. We find no relationship between contact rate of individuals and the genetic distance of their respective colonies. Interestingly, we do find a significant negative correlation between contact rate and the distance between the two colonies in susceptibility to a spectrum of parasite strains. This cannot be explained by either of the a priori alternatives so we propose two further testable hypotheses to explain our results.

Animals↗
PubMed2004

Ageing across the life span: time to think again.

Living organisms are subject to ageing. This natural process has gained greater importance in socially and medically affluent societies. For many, ageing connotes unattractive changes in the appearance of the skin. The gross morphological changes of ageing skin are mirrored by a range of more profound age-associated physiological declines. Thus, skin ageing can be put into other perspectives which lie at the interfaces of molecular biology, cellular biology, oncology and cosmetic dermatology. Genetically programmed replicative senescence and stress-induced premature senescence (SIPS) are two processes that are fundamental to skin ageing. Some iteroparous species can be used as animal models for human ageing. Undoubtedly, scientific understanding of skin ageing is firmly rooted in the distinction between intrinsic and extrinsic types of ageing. However, seven major types of skin ageing can be distinguished: genetic, chronological, solar, behavioural, endocrinological, catabolic and gravitational types. Preventative measures can target each of these.

Journal Article↗
PubMed2006

What has ageing to do with periodontal health and disease?

Periodontitis is a multi-factorial disease and in most cases also a disease with a chronic progression. Exposure to factors which contribute to periodontitis occurs over a long period, so that at the time of diagnosis it may be difficult to identify and evaluate what co-factors have contributed to its development. These include exposure to bacteria and viruses, inflammation, genetic factors, health behaviours and a variety of social factors, socio-economic status, behavioural and nutritional habits, the ability to cope with stress and the ability of the immune system to fight infections. Many patients in their 50s also experience other conditions such as heart disease, diabetes mellitus, or rheumatoid arthritis and recent reports on the associations and potential biological mechanisms by which periodontitis can be linked to other systemic diseases suggest that the patient with periodontitis is a challenged individual. Neither individuals nor their oral health care providers are currently prepared for the challenges in oral health care as the expectation of successful ageing with remaining and aesthetically functional teeth is increasing. The scientific evidence is, however, growing, and while the opportunities to prepare for successful ageing exist they must be included in the educational process of both current and future oral health care providers and their patients.

Age Factors↗
PubMed1999

Ethnic differences in incidence of stroke: prospective study with stroke register.

OBJECTIVE: To identify ethnic differences in the incidence of first ever stroke. DESIGN: A prospective community stroke register (1995-6) with multiple notification sources. Pathological classification of stroke in all cases was based on brain imaging or necropsy data. Rates were standardised to European and world populations and adjusted for age, sex, and social class in multivariate analysis. SETTING: A multi-ethnic population of 234 533 in south London, of whom 21% are black. RESULTS: 612 strokes were registered. The crude annual incidence rate was 1.3 strokes per 1000 population per year (95% confidence interval 1.20 to 1.41) and 1.25 per 1000 population per year (1.15 to 1.35) age adjusted to the standard European population. Incidence rates adjusted for age and sex were significantly higher in black compared with white people (P<0.0001), with an incidence rate ratio of 2.21 (1.77 to 2.76). In multivariable analysis increasing age (P<0.0001), male sex (P<0.003), black ethnic group (P<0.0001), and lower social class (P<0.0001) in people aged 35-64 were independently associated with an increased incidence of stroke. CONCLUSIONS: Incidence rates of stroke are higher in the black population; this is not explained by confounders such as social class, age, and sex. Ethnic differences in genetic, physiological, and behavioural risk factors for stroke require further elucidation to aid development of effective strategies for stroke prevention in multi-ethnic communities.

Adolescent↗
PubMedDate not supplied

Changing paradigms in concepts on dental caries: consequences for oral health care.

Kuhn proposed in his Structure of Scientific Revolutions (1962) that the theoretical framework of a science (paradigm) determines how each generation of researchers construes a causal sequence. Paradigm change is infrequent and revolutionary; thereafter previous knowledge and ideas become partially redundant. This paper discusses two paradigms central to cariology. The first concerns the most successful caries-preventive agent: fluoride. When it was thought that fluoride had to be present during tooth mineralisation to 'improve' the biological apatite and the 'caries resistance' of the teeth, systemic fluoride administration was necessary for maximum benefit. Caries reduction therefore had to be balanced against increasing dental fluorosis. The 'caries resistance' concept was shown to be erroneous 25 years ago, but the new paradigm is not yet fully adopted in public health dentistry, so we still await real breakthroughs in more effective use of fluorides for caries prevention. The second paradigm is that caries is a transmittable, infectious disease: even one caused by specific microorganisms. This paradigm would require caries prevention by vaccination, but there is evidence that caries is not a classical infectious disease. Rather it results from an ecological shift in the tooth-surface biofilm, leading to a mineral imbalance between plaque fluid and tooth and hence net loss of tooth mineral. Therefore, caries belongs to common 'complex' or 'multifactorial' diseases, such as cancer, cardiovascular diseases, diabetes, in which many genetic, environmental and behavioural risk factors interact. The paper emphasises how these paradigm changes raise new research questions which need to be addressed to make caries prevention and treatment more cost-effective.

Animals↗
PubMed2006

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead), tall marfanoid stature and long slender extremities, and behavioural problems. The genetic defect is not known. The diagnosis is based on the presence of the clinical manifestations. Genetic counselling is according to X-linked recessive inheritance. Prenatal testing is not possible. There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders.

Adolescent↗
PubMed2002

A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.

UNLABELLED: The melanocortin 3 receptor (MC3R) plays a critical role in weight regulation as demonstrated in mouse models. We describe a novel mutation Ile183Asn (T548A) found in heterozygosity in a 13-year-old obese girl and her father. METHODS: The MC3R gene was sequenced in 41 unrelated obese children, and 121 DNA samples from non-obese individuals were analysed for this novel sequence variant by allele-specific polymerase chain reaction (PCR). The genotypes of four family members of the pedigree were also analysed by allele-specific PCR. RESULTS: Ile183Asn was found in the proband and her father, though all four family members were obese. The sequence variant was not found in 121 control samples. The proband has high percentage body fat (49%), but the father's percentage body fat was only 30%. There were no distinguishing phenotypic features. Insulin sensitivity was significantly higher compared to the 40 other obese subjects without MC3R gene mutations. DISCUSSION: The difference in phenotypes between the two related heterozygotes, and the observation of obesity in other family members without the mutation suggests that obesity results from a varying combination of environmental, behavioural and multiple genetic factors (other than MC3R), even within the same family.

Adolescent↗