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[The use of family trees and the notion of heredity: a case study of hereditary chorea].

This paper analyzes the development and use of visual tools known as "family trees" that allow medical practitioners to see hereditary family diseases. Family trees, consisting of family names and a tree diagram on personal traits, became popular among neurologists during the late 19th century. However, social scientists have devoted only scant attention to the historical and social processes through which, before the rediscovery of Mendelian laws, medical practitioners came to use family trees as scientific devices for nosographical classification of hereditary diseases, such as hereditary chorea (one of the initial terms used to describe Huntington's disease). The purpose of this paper is to trace the complex processes by which family histories, namely the descriptive nosography of family members and family trees became distinct during the late 19th century. This paper argues that family trees of hereditary chorea became and important clinical tool, with the establishment of teaching hospitals, although, in the case of hereditary chorea, family trees were used to support different interpretations of the notion of heredity. The use of family trees was made possible by three conditions including the centralization of medical care, the standardization of medical records, and the circulation of medical information among medical practitioners.

Chorea↗

On a kinetic origin of heredity: minority control in a replicating system with mutually catalytic molecules.

As the first step in an investigation of the origin of genetic information, we study how some species of molecules are preserved over cell generations and play an important role in controlling the growth of a cell. We consider a model consisting of protocells. Each protocell contains two mutually catalysing molecule species (X and Y), each of which has catalytically active and inactive types. One of the species Y is assumed to have a slower synthesis speed. Through divisions of the protocells, the system reaches and remains in a state in which there are only a few active Y and almost no inactive Y molecules in most protocells, through the selection of very rare fluctuations. In this state, the active Y molecules are shown to control the behavior of the protocell. The minority molecule species act as the carrier of heredity, due to the relatively discrete nature of its population, in comparison with the majority species which behaves statistically in accordance with the law of large numbers. The minority controlled state may give rise to a selection pressure for mechanisms that ensure the transmission of the minority molecule. Once those mechanisms are in place, the minority molecule becomes the ideal storage device for information to be transmitted across generations, thus giving rise to "genetic information". The relevance of this minority controlled state to evolvability is also discussed.

Animals↗

Genetic and blood coagulation characterization of "Swedish" families with von Willebrand's disease types I and III: new aspects of heredity.

Twenty-five patients with von Willebrand's disease (vWD) type III were analysed with regard to blood coagulation variables and possible deletions. Nine of the probands and their families were further investigated with DNA linkage analyses. Different patterns of heredity can be suggested in our families with vWD type III, on the basis of blood coagulation analyses. The findings suggest homozygosity in five families and the possibility of compound heterozygosity or a new mutation in the proband in three families. The linkage analyses confirm the results of the coagulation analyses. The segregation of the von Willebrand factor (vWF) gene can be followed in the families, and carrier diagnosis can be made in several of the probands' relatives. The possibility of large deletions in the vWF gene of the probands and their parents was investigated with probes representing the whole vWF cDNA. No deletions were found.

Blood Coagulation↗

Heredity of hexobarbital sleeping time and efficiency of drug metabolism in Wistar and Sprague-Dawley rats.

Nature of considerable variability of hexobarbital sleeping time and drug metabolism efficiency within a single strain of rats were investigated. Wistar or Sprague-Dawley rats with shorter than average hexobarbital sleeping time had also higher rates of in vitro hepatic microsomal metabolism of hexobarbital, aminopyrine, aniline and benzene, higher liver weight, microsomal protein content and P-450 level, and faster hexobarbital blood level decline (but similar volumes of distribution) after intraperitoneal hexobarbital sodium than those with relatively longer hexobarbital sleeping time, but awakened with the same hexobarbital blood level. The differences were maintained throughout the life of rats and inherited in their offspring. It indicated a possible genetic control of hexobarbital sleeping time and efficiency of drug metabolisms with apparent differences in selection response for Type I and Type II substrates (hexobarbital and aminopyrine vs aniline): it might indicate different heredity mechanism for these types of substrates. Stronger hexobarbital narcotic effect in females was associated with the rate of hexobarbital metabolism, but also with higher brain sensitivity. Hexobarbital sleeping time pattern indicated more general pattern of drug metabolism (better for Type I substrates) and success of selection of rats for different efficiency of drug metabolism (up to 8-fold differences in F5 generation) suggested considerable genetic non-homogeneity of two common strains of laboratory rats.

Aminopyrine↗

Heredity and changes in body composition and adipose tissue metabolism after short-term exercise-training.

The purpose of the experiment was to investigate the genotype dependency of body composition and adipose tissue metabolism following short-term exercise-training. Six pairs of male, sedentary monozygotic twins took part in a 22 day ergocycle training program at 58% VO2max, with a mean exercise duration of 116 min x day-1. Body weight, fat mass, percent body fat and VO2max, were evaluated before and after the training program. From a suprailiac region fat biopsy, the following adipose tissue metabolic variables were evaluated: fat cell diameter, basal and epinephrine stimulated lipolysis, basal and insulin stimulated lipogenesis from glucose and heparin releasable lipoprotein lipase activity. The exercise-training program increased (p less than 0.01) VO2max and decreased (p less than 0.01) body weight, fat mass and percent body fat. Variation in response within twin pairs was not significantly different than response between pairs in the aforementioned variables. However, a significant within pair resemblance (p less than 0.01) for changes in fat free mass was observed. Adipose tissue metabolic indicators exhibited a large interindividual variation in response to exercise-training. Significant within twin pair resemblance was observed only for basal lipogenesis. Moreover, the non significant within twin pair resemblance for changes in body fat and adipose tissue metabolic indicators suggests that heredity is not a major factor influencing changes in body fat and adipose tissue indicators to short-term training resulting in negative energy balance. Changes in fat free mass were, however, closely coupled to the genotype.

Adipose Tissue↗

Heredity-environment analyses of Jencks's IQ correlations.

Three different published heredity-environment analyses of Jencks's summary correlations for IQ have yielded strikingly different results. It is shown empirically that differences in selection of data and in computational procedures and logical inconsistencies in specifying equations are not responsible for the differences in results. Rather, the differences trace to the underlying assumptions made by the various authors. The analyses suggest that the assumptions concerning genetic dominance, assortative mating, and special twin environments were especially critical, while those regarding selective placement and different modes of environmental transmission were not.

Environment↗

The role of heredity in the etiology of large bowel cancer: data from the Melbourne Colorectal Cancer Study.

Family history data of colorectal cancer, heart disease, and stroke were obtained on near relatives (parents, siblings, and children) in 702 colorectal cancer cases and 710 age-/sex-matched community controls as part of a large, comprehensive, population-based epidemiological and clinicopathological study of colorectal cancer conducted in Melbourne (the Melbourne Colorectal Cancer Study). There was a statistically significant higher family history rate of colorectal cancer in cases than in controls (relative risk = 2.13; 95% confidence interval = 1.53-2.96; p less than 0.001). This family history effect was more pronounced for colon cancer than for rectal cancer and there was an earlier age of detection of colorectal cancer in those with a family history of this cancer when compared with those without such a history. Dietary risk factors for colorectal cancer, which were previously described in the Melbourne study, were separate and independent from the family history effects. It is concluded that a family history of colorectal cancer is an important indication to screen individuals for this cancer, and also that while heredity has a definite role in the etiology of colorectal cancer, this hereditary effect is either likely to be small, or else likely to be important in only a proportion (perhaps 20%) of cases.

Adenocarcinoma↗

Influence of heredity and environment on bone density in adolescent boys: a parent-offspring study.

The purpose of the present parent-offspring study was to investigate the influence of heredity and environment on bone density in young men. Another aim was to discover whether the same genetic factors influence bone mass, lean mass and muscle strength. Fifty families including a father, mother and one son were investigated. The mothers (aged 44.5 +/- 4.4 years) and fathers (aged 47.1 +/- 4.4 years) generally had a sedentary lifestyle with little physical activity. As a contrast, all but three of the sons (aged 17.0 +/- 0.4 years) were active in ice hockey training. Bone mineral density (BMD, g/cm2) of the total body, head, lumbar spine and femoral neck was measured using dual-energy X-ray absorptiometry. Muscle strength of the hamstrings and quadriceps muscles was also measured in the boys. BMD values of different sites in the fathers, mothers and sons were adjusted for weight, height, age, and any significant influence of environment. Heritability estimates were obtained as regression coefficients with the boys' adjusted BMD as dependent variable and the adjusted midparent bone density (father BMD + mother BMD/2) as independent variable. Accordingly, heritability explained 34-54% of the variation in the sons' BMD. Midparent BMD of several sites also predicted the boys' lean mass and quadriceps strength, and midparent-offspring differences in lean mass predicted midparent-offspring differences in BMD of the total body, head and spine (beta = 0.30-0.51, p < 0.05). The sons were found to have almost 30% higher femoral neck BMD than their fathers, and physical activity (hours/week) predicted BMD at several sites among the sons beta = 0.26-0.34, p < 0.05). In conclusion, heritability is a main determinant of the variance in BMD in young men. Based on the results we suggest that the same genetic factors may influence bone mass, lean mass and muscle strength by affecting body size. The present study also emphasizes the importance of physical activity for the development and maintenance of BMD in men.

Adolescent↗

A complex background in children and adolescents with psychiatric disorders: developmental delay, dyslexia, heredity, slow cognitive processing and adverse social factors in a multifactorial entirety.

A consecutive cohort of 112 children, 42 girls and 70 boys, aged 5-17 years, receiving child psychiatric inpatient care, was investigated regarding the probability of a complex background of concomitant biological and social factors. Most of the subjects showed maladjustment and depressive states, school problems, problems with peers, psychosomatic complaints and anxiety. A very high rate of factors indicating neurodevelopmental dysfunctions was found particularly in boys, who exhibited developmental delay, dyslexia, heredity for dyslexia, and a slow complex reaction time (CRT) - suggesting slow cognitive processing - considered an impairment in itself. Further, many children obtained errors on the CRT task, indicating attention deficit and deterioration during the test, pointing toward exhaustion. The social background displayed frequent problems such as broken homes, care outside the biological home, and disordered and/or abusing parents. The biological and social factors created a complex web, predisposing the child to primary, secondary and/or comorbidity problems, and leading to an interactive process reducing the child's psychosocial capacity and competence. A pattern was developed of an impaired child, living in an inadequate/insufficient family milieu in a modern society, with increasing demands on children.

Adolescent↗

Heredity and hypertension: impact on metabolic characteristics.

This study was performed to evaluate the possible role of heredity in the clinical characteristics of hypertension. Metabolic, endocrine, and renal measurements were compared in subjects with normal blood pressure who had a family history of hypertension (n = 60) with those of subjects with normal blood pressure who did not have a family history of hypertension (n = 48). The groups were matched for age (mean, 44 +/- 2 years and 45 +/- 2 years) and blood pressure (127 +/- 1/77 +/- 1 mm Hg and 127 +/- 2/77 +/- 1 mm Hg). The following parameters were higher in the patients with a family history of hypertension than in those without. Plasma insulin concentrations (14.1 +/- 1.1 vs 10.8 +/- 1.0 microU/ml; p less than 0.05), insulin-glucose ratio (0.15 +/- 0.01 vs 0.11 +/- 0.010; p less than 0.05), norepinephrine concentrations (315 +/- 24 pg/ml vs 208 +/- 20 pg/ml; p less than 0.01), plasma renin activity (2.1 +/- 0.2 ng Angl/ml/hr vs 1.6 +/- 0.2 ng Angl/ml/hr; p less than 0.02), total cholesterol levels (217 +/- 8 mg/dl vs 197 +/- 0.3 mg/dl; p less than 0.05), creatinine clearance (125 +/- 9 ml/min vs 96 +/- 8 ml/min; p less than 0.01), and albumin excretion rate (3.2 +/- 0.3 micrograms/min vs 2.6 +/- 0.3 micrograms/min; p = 0.1). Moreover, patients with a family history of hypertension had smaller increases in systolic blood pressure during treadmill exercise (55 +/- 3 mm Hg vs 64 +/- 3 mm Hg; p less than 0.03). There were no differences in echocardiographic left ventricular mass index between the groups.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Influence of heredity on dietary restraint, disinhibition, and perceived hunger in humans.

OBJECTIVE: Dietary restraint, disinhibition, and perceived hunger have been shown to affect food intake and body weight and are thought to be risk factors for eating disorders, but little is known about their origins. We investigated the influence of heredity, shared (familial) environment, and individual environment on dietary restraint disinhibition, perceived hunger and their relation to body size and food intake. METHODS: Scores on the Three Factor Eating Questionnaire and the Restraint Scale in addition to height, weight, body mass index, and 7-d diary reported nutrient intakes were obtained from 39 identical, 60 fraternal same-sex, and 50 fraternal opposite-sex adult twin pairs who were living independently. Linear structural modeling was applied to investigate the nature and degree of genetic and environmental influences. RESULTS: Analysis showed significant genetic and individual environmental, but not shared (familial) environmental, influences on cognitive restraint, perceived hunger, and Restraint Scale scores, with genes accounting for 44%, 24%, and 58% of the variance, respectively. In contrast, disinhibition was found to be significantly influenced by the shared (familial) environment, accounting for 40% of the variance. Further analysis showed that cognitive restraint and perceived hunger heritabilities could not be accounted for by significant heritabilities of body weight, height, or body mass index. In contrast, the heritability of Restraint Scale scores was found to be related to body size. Cognitive restraint was negatively correlated with nutrient intake, and differences in cognitive restraint were found to be related to differences in the body sizes of identical twin pairs. CONCLUSIONS: Dietary restraint appears to be another component in a package of genetically determined physiologic, sociocultural, and psychological processes that regulate energy balance, whereas dietary disinhibition may be the intermediary between upbringing and the development of overweight and/or eating disorders.

Adult↗

Heredity influences the dietary energy density of free-living humans.

Dietary energy density has been shown to have large effects on short-term food intake. Little is known, however, about its origins. We investigated the influence of heredity, shared (familial) environment, and individual environment on dietary energy density and its relationship to food intake with 110 identical and 102 fraternal same-sex and 53 fraternal mixed gender adult twin pairs who were paid to maintain 7-day food intake diaries. From the diary reports, the total and meal intakes of food energy, the amounts of the macronutrients ingested, and dietary energy density were estimated. Linear structural modeling was applied to investigate the nature and degree of genetic and environmental influences. The analysis revealed significant genetic and individual environmental, but not shared (familial) environmental, influences on the dietary densities of the reported diets. But, there was no genetic or familial influences on the responsiveness of the individual to dietary density. Dietary energy density appears to be another component in a package of genetically determined physiological, sociocultural, and psychological processes that influence the regulation of energy balance.

Adult↗

Emotional reactivity in mice, a case of nongenetic heredity?

Nongenetic heredity cases have been described in man, as well as in animals, and relationships between parents and offspring seem to play an important role in this transmission. In mice, mothering type could be nongenetically heritable by a latent learning close to mechanism. As mothering style clearly influences emotional reactivity, this reactivity could be nongenetically transmitted over generations. To clarify this question, the mother's influence on adult offspring reactivity must be established (whatever its basis, genetic, social or other). Thus, two reciprocal F1 hybrids (CB6 from a BALB/c mother and B6C from a C57BL/6 mother) have been compared using an ethological analysis in animal tests of emotional reactivity such as the free exploration paradigm and the light/dark box. First results show a sharp influence of the mother's strain and that suggests an effect of mothering style. The offspring from C57BL/6 mothers display less reactivity in the free exploration paradigm than the offspring from BALB/c mothers. In the light/dark box, no difference has been found between the two hybrids. Moreover, the mother's influence is greater in males than in females.

Animals↗

[Diabetes and heredity].

Genetic factors are essential to the occurrence of insulin-dependent diabetes (IDD) and non-insulin-dependent diabetes (NIDD), and all that environmental factors do is facilitate the development of diabetes in genetically predisposed subjects. Recent advances in molecular biology have improved our understanding of diabetic heredity. IDD is closely linked to the HLA region of chromosome 6. Ninety percent of IDD belong to the DR3 or DR4 group. The occurrence of IDD is facilitated by a peculiar conformation of the HLA DQ molecule which permits the presentation of antigens to the T-cells. Other genes still have to be discovered since IDD seems to be of polygenic origin. NIDD is even more "hereditary" than IDD, but owing to the lack of an unquestionable marker the responsible genes cannot be located with certainty. Several possible genes such as those of insulin, insulin receptor and glucose transporter, are suspected, at least in some forms of NIDD--a clinically and biologically highly heterogeneous disease. Widespread family studies should, in a not too distant future, locate the responsible gene thereby leading to early detection or even prevention of NIDD.

Animals↗

Arteriosclerosis, heredity, and some previous infections in the etiology of Parkinson's disease. A case-control study.

A case-control study was performed to investigate the significance of arteriosclerosis, heredity and some infections in the etiology of Parkinson's disease. The study group consisted of all traceable patients with Parkinson's disease living in a defined area, a total of 444 patients, and of control subjects for each patient, matched in sex and age, chosen from among the general population residing in the same area. No significant differences were found between the patients and the controls concerning the occurrence of cardiac insufficiency, coronary heart disease, or stroke. The Parkinsonian patients, however, had a significantly lower incidence of clinical arterial hypertension when compared with the controls. In addition, the patients more often had low systolic blood pressures and more rarely high pressures than the controls. Even the mean systolic blood pressure was significantly lower in the patients than in the controls. The low blood pressure seems to be an effect of Parkinson's disease itself with a minor contribution of levodopa therapy. The observations above are considered to indicate that arteriosclerosis and Parkinson's disease are probably only concurrent disorders and not in etiological relationship with each other. There was no statistically significant difference in the proportion of the patients and the controls with relatives with Parkinson's disease or essential tremor, which suggests that genetic factors do not have a significant role in Parkinson's disease and on the other hand that essential tremor and Parkinson's disease are two separate disease entities. No other encephalitis than a lethargic one was found to precede Parkinson's disease and the occurrence of meningitis was rare both among the patients and the controls. The history of Spanish influenza was found to be as frequent in the patients as in the controls, thus not supporting the idea that influenza has etiological importance in Parkinson's disease.

Aged↗

[Heredity and genetic aspects of Raynaud's disease].

The pathophysiology of primary Raynaud's phenomenon (Raynaud's disease) remains uncertain but the transmission of this primary microcirculatory dysregulation seems strongly influenced by genetic factors. For a long time, physicians have found that the hereditary factor plays an important role in the genesis of Raynaud's disease. Familial analysis and twin studies have confirmed the role of an hereditary factor. It seems heterogeneous but pedigree analysis indicates the possibility of an autosomal dominant transmission influenced by sex, in some families, allowing an approach called "reverse genetic" based on linkage analysis. Such an approach has focused on few loci but sequencing of candidate genes for genetic mutations remains negative. Given the supposed heterogeneity of the genetic transmission of Raynaud's disease, diversification of strategies in molecular genetics is suitable with reference to techniques applied to multifactorial heredity.

Female↗

Membrane heredity and early chloroplast evolution.

Membrane heredity was central to the unique symbiogenetic origin from cyanobacteria of chloroplasts in the ancestor of Plantae (green plants, red algae, glaucophytes) and to subsequent lateral transfers of plastids to form even more complex photosynthetic chimeras. Each symbiogenesis integrated disparate genomes and several radically different genetic membranes into a more complex cell. The common ancestor of Plantae evolved transit machinery for plastid protein import. In later secondary symbiogeneses, signal sequences were added to target proteins across host perialgal membranes: independently into green algal plastids (euglenoids, chlorarachneans) and red algal plastids (alveolates, chromists). Conservatism and innovation during early plastid diversification are discussed.

Biological Evolution↗

Heredity and infectious diseases: a twin study.

A concordance study of 6 infectious diseases of childhood has been carried out in a sample of 656 twin pairs classified by sex and zygosity. A new approach is proposed to estimate the respective influence of heredity and of common environment. The estimates thus obtained range from 86% hereditary component in the case of measles to 100% environmental component in the case of scarlet fever.

Adult↗