"Why did I get that part of you?" Understanding addiction genetics through family history.

Scientists have sought to uncover the genetic bases of many diseases and disorders. In response, scholars defined "geneticization" to describe genetic infiltration of understandings of health and illness. In our research, we interviewed 63 individuals in addiction treatment programs to identify what form of geneticization best fits individuals' description of their own addiction. Individuals' narratives of their lives, which include family history and are influenced by cultural and structural factors, affect respondents' reactions to a potential genetic basis of addiction. Most who had a family history of addiction subscribed to a notion that addiction "runs in families," while most who lacked a family history of addiction used this fact to reject the notion of genetic inheritance of addiction. We conclude that though we see elements of several different versions of geneticization, Nikolas Rose's version, that genetics affects peoples' perceptions of addiction in small but important ways, best describes our respondents' views.

Protein-Based Inheritance: Epigenetics beyond the Chromosome.

Epigenetics refers to changes in phenotype that are not rooted in DNA sequence. This phenomenon has largely been studied in the context of chromatin modification. Yet many epigenetic traits are instead linked to self-perpetuating changes in the individual or collective activity of proteins. Most such proteins are prions (e.g., [PSI+], [URE3], [SWI+], [MOT3+], [MPH1+], [LSB+], and [GAR+]), which have the capacity to adopt at least one conformation that self-templates over long biological timescales. This allows them to serve as protein-based epigenetic elements that are readily broadcast through mitosis and meiosis. In some circumstances, self-templating can fuel disease, but it also permits access to multiple activity states from the same polypeptide and transmission of that information across generations. Ensuing phenotypic changes allow genetically identical cells to express diverse and frequently adaptive phenotypes. Although long thought to be rare, protein-based epigenetic inheritance has now been uncovered in all domains of life.

Head-up tilt test results in child twins with nervous mediated syncope.

OBJECTIVE: To investigate the familial genetic characteristics of syncope in children. METHODS: A detailed medical history was taken from four twin pairs of children complaining of dizziness, headache, chest tightness, chest pain, prodromal symptoms of syncope or syncope, meanwhile, these patients were given routine physical examination, 12-lead ECG, echocardiography, Holter ECG, EEG, MRI of the head and other tests to exclude cardio-cerebrovascular and pulmonary diseases, with those with unknown origin for syncope undergoing head-up tilt test (HUTT) and inquiry of detailed family history. RESULTS: The four pairs of twins with syncope beginning at 7-12years and induced mostly by standing position (4/5), and positive family history was noted in two pairs. Vasovagal syncope (VVS)-vasoinhibitory response pattern was predominant in HUTT (4/5). The results and the response pattern in HUTT might diversify between two members within same twin pair: one appeared as vasoinhibitory response pattern and one postural orthostatic tachycardia syndrome (POTS) pattern in the first pair, one vasoinhibitory response pattern and one negative response pattern in the second pair, vasoinhibitory response pattern in the third pair and negative response pattern in the fourth pair. CONCLUSIONS: The hereditary factors may play a more important role in younger children with syncope. Environment and psychological factors may induced syncope attack. The results and the response pattern in HUTT are diversified and which might different between two members within twin pair.

Endofenótipo da dislexia: hereditariedade, alterações de linguagem e influências do processamento fonológico e memória visual nas habilidades de leitura, escrita e matemática / Endophenotype of dyslexia: heredity, language changes and influences of phonological processing and visual memory skills in reading, writing and math

Os fatores genéticos e hereditários têm ganhado um foco especial como causa da dislexia, entretanto, há muito a ser estudado na busca de sua etiologia. Há vasta literatura associando o processamento fonológico ao aprendizado da leitura e escrita, porém pouco é investigado sobre a participação do processamento visual nas habilidades de leitura. Atualmente, a relação entre processamento fonológico e matemática tem sido apontada nas publicações científicas, sendo ainda pouco estudada, havendo necessidade de melhor compreensão entre a relação dessas habilidades, bem como as comorbidades entre dislexia e problemas na matemática. Este estudo teve como objetivo geral descrever o perfil endofenótipo dos sujeitos com dislexia referente à hereditariedade e influência do processamento fonológico e memória sequencial visual nas dificuldades da linguagem escrita e na matemática, no intuito de identificar semelhanças e diferenças no processamento da informação escrita entre indivíduos com dislexia e bons leitores. Participaram 35 indivíduos com o diagnóstico de dislexia e 46 bons leitores, de 8 a 13 anos e ambos os sexos. Nos dois grupos foram avaliadas as habilidades do processamento fonológico (consciência fonológica, acesso ao léxico e memória de trabalho fonológica), leitura de palavras, pseudopalavras, compreensão de texto, escrita e habilidades matemáticas. As habilidades do processamento fonológico e memória visual foram correlacionadas com a leitura, escrita e matemática nos dois grupos. Foi utilizado o Teste de Correlação de Pearson para correlacionar tais habilidades, e o Teste Qui-Quadrado e Teste U de Mann-Whitney para comparar o desempenho entre os grupos, adotando-se nível de significância de 5%. Encontrou-se que o histórico familial de problemas de aprendizagem esteve presente em mais da metade do grupo com dislexia, demonstrando que este é um importante fator de risco. Os indivíduos com dislexia apresentam pior...

Genetic and hereditarity factors have gained a special focus as the cause of dyslexia, however, there is much to be studied in the search for its etiology. There is extensive literature linking phonological processing to reading and writing learning, but the participation of visual processing in reading skills is little investigated. Currently, the relationship between phonological processing and mathematics has been identified in scientific publications, but still scarcely studied, there is need for better understanding the relationship between these skills as well as the comorbidities between dyslexia and problems in mathematics. This study aimed to describe the endophenotype profile of the subjects with dyslexia related to hereditarity and influence of phonological processing and visual sequential memory difficulties in written language and mathematics, in order to identify similarities and differences in written information processing between individuals with dyslexia and good readers. Participated in the study 35 diagnosed with dyslexia and 46 good readers, from 8 to 13 years old, both genders. Both groups were assessed the phonological processing skills (phonological awareness, lexical access and phonological working memory), words and pseudo words reading, reading comprehension, writing and math skills. The skills of phonological processing and visual memory were correlated with reading, writing and math in both groups. It was used the Pearson's Correlation Test to correlate these skills, and the Chi-square Test and Mann-Whitney Test to compare the performance between the groups, adopting a significance level of 5%. Family history of learning problems was present in more than half of the group with dyslexia, demonstrating that this is an important risk factor. Individuals with dyslexia performed worse in the phonological processing...

Endofenótipo da dislexia: hereditariedade, alterações de linguagem e influências do processamento fonológico e memória visual nas habilidades de leitura, escrita e matemática / Endophenotype of dyslexia: heredity, language changes and influences of phonological processing and visual memory skills in reading, writing and math

Os fatores genéticos e hereditários têm ganhado um foco especial como causa da dislexia, entretanto, há muito a ser estudado na busca de sua etiologia. Há vasta literatura associando o processamento fonológico ao aprendizado da leitura e escrita, porém pouco é investigado sobre a participação do processamento visual nas habilidades de leitura. Atualmente, a relação entre processamento fonológico e matemática tem sido apontada nas publicações científicas, sendo ainda pouco estudada, havendo necessidade de melhor compreensão entre a relação dessas habilidades, bem como as comorbidades entre dislexia e problemas na matemática. Este estudo teve como objetivo geral descrever o perfil endofenótipo dos sujeitos com dislexia referente à hereditariedade e influência do processamento fonológico e memória sequencial visual nas dificuldades da linguagem escrita e na matemática, no intuito de identificar semelhanças e diferenças no processamento da informação escrita entre indivíduos com dislexia e bons leitores. Participaram 35 indivíduos com o diagnóstico de dislexia e 46 bons leitores, de 8 a 13 anos e ambos os sexos. Nos dois grupos foram avaliadas as habilidades do processamento fonológico (consciência fonológica, acesso ao léxico e memória de trabalho fonológica), leitura de palavras, pseudopalavras, compreensão de texto, escrita e habilidades matemáticas. As habilidades do processamento fonológico e memória visual foram correlacionadas com a leitura, escrita e matemática nos dois grupos. Foi utilizado o Teste de Correlação de Pearson para correlacionar tais habilidades, e o Teste Qui-Quadrado e Teste U de Mann-Whitney para comparar o desempenho entre os grupos, adotando-se nível de significância de 5%. Encontrou-se que o histórico familial de problemas de aprendizagem esteve presente em mais da metade do grupo com dislexia, demonstrando que este é um importante fator de risco. Os indivíduos com dislexia apresentam pior...

Genetic and hereditarity factors have gained a special focus as the cause of dyslexia, however, there is much to be studied in the search for its etiology. There is extensive literature linking phonological processing to reading and writing learning, but the participation of visual processing in reading skills is little investigated. Currently, the relationship between phonological processing and mathematics has been identified in scientific publications, but still scarcely studied, there is need for better understanding the relationship between these skills as well as the comorbidities between dyslexia and problems in mathematics. This study aimed to describe the endophenotype profile of the subjects with dyslexia related to hereditarity and influence of phonological processing and visual sequential memory difficulties in written language and mathematics, in order to identify similarities and differences in written information processing between individuals with dyslexia and good readers. Participated in the study 35 diagnosed with dyslexia and 46 good readers, from 8 to 13 years old, both genders. Both groups were assessed the phonological processing skills (phonological awareness, lexical access and phonological working memory), words and pseudo words reading, reading comprehension, writing and math skills. The skills of phonological processing and visual memory were correlated with reading, writing and math in both groups. It was used the Pearson's Correlation Test to correlate these skills, and the Chi-square Test and Mann-Whitney Test to compare the performance between the groups, adopting a significance level of 5%. Family history of learning problems was present in more than half of the group with dyslexia, demonstrating that this is an important risk factor. Individuals with dyslexia performed worse in the phonological processing...

Avaliação genética de caprinos da raça Saanen nascidos no Brasil de 1979 a 2009 / Genetic evaluation of Saanen goats born in Brazil from 1979 to 2009

O objetivo deste trabalho foi estimar herdabilidades, correlações genéticas e fenotípicas e tendências genéticas das características morfológicas e de tipo de caprinos da raça Saanen nascidos no Brasil de 1979 a 2009. Dados de 1243 caprinos, 197 machos e 1046 fêmeas, foram utilizados para estimar parâmetros genéticos e tendência das características: perímetro torácico, comprimento corporal, altura na cernelha, altura, largura e comprimento da garupa, bem como as principais características que definem o padrão racial e a aptidão do animal (paleta e linha superior, membros e pés, tipo leiteiro, capacidade de corpo, úbere, ligamento traseiro e dianteiro, textura do úbere, tetos e nota). Os componentes de variância foram estimados pelo método da máxima verossimilhança restrita em análise multicaracterística. A tendência genética foi obtida por meio da regressão dos valores genéticos médios por ano de nascimento. As estimativas de herdabilidade das características morfofuncionais variaram de 0,08 a 0,45, as correlações genéticas de -0,58 a 0,89 e fenotípicas de -0,11 a 0,87. A tendência foi de um leve declínio ao longo dos anos para a maior parte das características avaliadas, o que evidencia a existência de variabilidade genética aditiva entre os animais, mas demonstra que a seleção praticada tem sido pouco efetiva...

The aim of this study was to estimate heritability, genetic and phenotypic correlations and genetic trends of morphological characteristics and type of Saanen goats born in Brazil from 1979 to 2009. Data from 1243 goats, 197 males and 1046 females were used to estimate genetic parameters and trends for the following traits: girth, body length, wither height, height, width and rump length, and the main traits that define the breed standard and ability of the animal (shoulder and topline, limbs and feet, dairy type, body capacity, mammary gland, linking front and rear, texture of the udder, teats and note). Variance components were estimated by Restricted Maximum Likelihood multi-trait analysis. Genetic trends were obtained by regression of mean breeding values by year of birth. The heritability estimates of morphological and functional traits ranged from 0.08 to 0.45, the genetic correlations from -0.58 to 0.89 and phenotypes from -0.11 to 0.87. The trend was a slight decline over the years for most traits, which shows the existence of additive genetic variability among animals, but it demonstrates that the selection practiced has been ineffective...

Hipertensão arterial na criança e no adolescente / Arterial hypertension in children and adolescent

A prevalência estimada de hipertensão arterial (HA) em crianças e adolescentes varia de 1% a 10% nos vários estudos disponíveis. A medida de pressão arterial (PA) na criança exige cuidados especiais em relação ao ambiente, técnica e equipamento utilizados. Estudos com medida única de PA tendem a gerar dados superestimados de prevalência de HA nessa população. neste artigo, são abordados aspectos epidemiológicos, diagnósticos e terapêuticos atuais da HA na criança e no adolescente. Foram incluídos aspectos das medidas por monitorização ambulatorial de pressão arterial e medida residencial de pressão arterial, por se tratarem de técnicas gradativamente mais utilizadas na população infantil.

The estimated prevalence of pediatric arterial hypertension (AH) ranges from 1% to 10% in various available studies. The measurement of blood pressure (BP) in children requires special care in relation to environmental, technical and equipment issues. Studies with single BP measurements tend to generate overestimated prevelence data on pediatric hypertension. This article examines epidemiological aspects, diagnosis and current therapeutics of hypertension in children and adolescents. Aspects on the use of ambulatory BP monitoring and home BP monitoring were included, as they are gradually being introduced in pediatric practice.

Genetic architecture of declarative memory: implications for complex illnesses.

Why do memory abilities vary so greatly across individuals and cognitive domains? Although memory functions are highly heritable, what exactly is being genetically transmitted? Here we review evidence for the contribution of both common and partially independent inheritance of distinct aspects of memory function. We begin by discussing the assessment of long-term memory and its underlying neural and molecular basis. We then consider evidence for both specialist and generalist genes underlying individual variability in memory, indicating that carving memory into distinct subcomponents may yield important information regarding its genetic architecture. And finally we review evidence from both complex and single-gene disorders, which provide insight into the molecular mechanisms underlying the genetic basis of human memory function.

Chemotherapy-induced late transgenerational effects in mice.

To our knowledge, there is no report on long-term reproductive and developmental side effects in the offspring of mothers treated with a widely used chemotherapeutic drug such as doxorubicin (DXR), and neither is there information on transmission of any detrimental effects to several filial generations. Therefore, the purpose of the present paper was to examine the long-term effects of a single intraperitoneal injection of DXR on the reproductive and behavioral performance of adult female mice and their progeny. C57BL/6 female mice (generation zero; G0) were treated with either a single intraperitoneal injection of DXR (G0-DXR) or saline (G0-CON). Data were collected on multiple reproductive parameters and behavioral analysis for anxiety, despair and depression. In addition, the reproductive capacity and health of the subsequent six generations were evaluated. G0-DXR females developed despair-like behaviors; delivery complications; decreased primordial follicle pool; and early lost of reproductive capacity. Surprisingly, the DXR-induced effects in oocytes were transmitted transgenerationally; the most striking effects being observed in G4 and G6, constituting: increased rates of neonatal death; physical malformations; chromosomal abnormalities (particularly deletions on chromosome 10); and death of mothers due to delivery complications. None of these effects were seen in control females of the same generations. Long-term effects of DXR in female mice and their offspring can be attributed to genetic alterations or cell-killing events in oocytes or, presumably, to toxicosis in non-ovarian tissues. Results from the rodent model emphasize the need for retrospective and long-term prospective studies of survivors of cancer treatment and their offspring.

Germline stem cells: the first guards of heredity.

The genes involved in the cellular response to DNA damage are crucial for ensuring DNA integrity during spermatogenesis. In this issue of Cell Stem Cell, Takubo et al. (2008) show that ATM, a key kinase of the DNA damage response, is also involved in maintaining the stem cell potential of undifferentiated spermatogonia.

Tendências genética e fenotípica para ganho de peso médio diário entre a desmama e o sobreano em uma população Angus x Nelore / Genetic and phenotypic trends for average daily weight gain from weaning to 550 days of age in a Angus Nellore population

Foram analisados os registros de ganho médio diário entre a desmama e o sobreano (GMDDS) de 33.267 animais de uma população multirracial Angus - Nelore, filhos de 525 touros, criados em 37 rebanhos, em diversas regiões do Brasil, entre os anos de 1987 e 2001. O modelo animal usado incluiu os efeitos aleatórios genético aditivo direto e materno e residual e os efeitos fixos de grupo genético do pai, da mãe e do animal e do grupo de contemporâneos pós-desmama, além da covariável idade à desmama, não ajustada. O GMDDS médio observado para a população foi 384,22g. O ano de 1999 foi o que apresentou o maior GMDDS (484,04g), e o ano de 1992, o menor (299,42g). Os coeficientes de herdabilidade estimados foram: 0,30±0,11 (direta) e 0,29±0,07 (materna). O VG médio foi de -0,827g. A tendência genética estimada para essa característica foi de -0,029g/ano (P<0,08) e a fenotípica foi de 5,69g/ano (P<0,05).

Direct and maternal heritability coefficients were estimated and genetic and phenotypic trends were predicted for average weight gain from weaning to 550 days of age (AWG) from 33,267 animals of a multi-breed Angus-Nellore population, sired by 525 bulls and raised in 37 herds in several regions of Brazil, from 1987 to 2001. MTDFREML was used for estimating the (co)variance components utilized to estimate the genetic direct and maternal heritability coefficients and to predict the breeding values. The animal model included as fixed the genetic group of sire, dam and animal and the pos weaning year/station/herd contemporary group and the covariate weaning age, and as ramdom, the additive genetic, maternal and residual effects. The observed AWG was 384.22g, 1999 presented the highest (484.04g) and 1992 the lowest value (299.42g). The direct heritability was 0.30±0.11, the maternal h² was 0.29±0.07 and the average genetic value was -0.827g. The estimated genetic trend for AWG was -0.029g (P<0.08) and the phenotypic trend was 5.68g (P<0.05). A phenotypic progress for average weight gain from weaning to 550 days of age occurred as a consequence of an environmental improvement, and the estimated genetic progress was close to zero.

Estudo genético-quantitativo de medidas lineares de eqüinos da raça Mangalarga Marchador -I. Estimativas dos fatores de ambiente e parâmetros genéticos / Genetic-quantitative study of body measurements of Mangalarga Marchador horse bred in Brazil -I. Estimates of genetic and environmental effects

Embora o interesse em pesquisas sobre morfologia em algumas espécies tenha sido menor do que aquele proporcionado aos estudos sobre a produtividade, as características em eqüinos são importantes por estarem intrinsecamente relacionadas à sua funcionalidade de aptidão. Desta forma, os objetivos do presente estudo foram os de estimar herdabilidades e correlações fenotípicas e genéticas entre doze medidas corporais provenientes dos Livros de Registro Genealógicos da Associação Brasileira dos Criadores do Cavalo Mangalarga Marchador, entre 1967 e 1992, por ocasião do Registro Genealógico de 29.076 animais. As estimativas foram efetuadas pelo método dos quadrados mínimos, através do programa Harvey (1990). Os efeitos fixos de ano, idade à avaliação e sexo foram significativos para a maioria das medidas estudadas. Estimativas de herdabilidade apresentam valores de moderados (0,40 para o perímetro torácico) a altos (0,80 para o comprimento do dorso), com um valor médio para as doze medidas corporais de 0,56, evidenciando a importância do componente genético aditivo nas características morfológicas dos animais Mangalarga Marchador. As correlações genéticas entre as características variaram de -0,09 (perímetro da canela-comprimento do dorso) a 0,96 (altura na cernelha - altura na garupa). Sessenta e três das 66 correlações possíveis (95,5%) apresentaram sinal positivo e destas, 40 (60,6%) apresentaram valor igual ou superior a 0,30. Este achado demonstra o sinergismo existente entre a maioria das características estudadas.

The objective of this study was to estimate heritabilities, genetic and phenotypic correlation of twelve body measurements of the Brazilian horse bred Mangalarga Marchador. Records from 29,076 animais, measured between 1967 and 1992, were analyzed by Least-Square and Maximum Likelihood Computer Program (Harvey, 1990). The fixed effect of year, age, and sex of foal were signifcant for most of the characteristics. Heritability estimates varied between 0.40 (thoracic diameter) to 0.80 (back length), with a medium value of 0.56, characterizing the importance of the genetic component of body measurements in horses. Genetic correlations varied between -0.09 (cannon diameter-back length) and 0.96 (withers height). Sixty-three of the 66 possible correlations (95.5%) were positive; 40 (60.6%) were superior to 0.30. lt was evident that selection for one (or combination) of traits would have effect on almost all other morphological traits.