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Major congenital anomalies are known to play a role in the management and prognosis of airway obstruction. Most studies assess acquired forms of airway obstruction. Data on congenital or otherwise non-acquired forms of airway obstruction is sparse. In this retrospective, single-institution cohort study, we sought to evaluate and compare the patterns of airway obstruction in children with and without major congenital anomalies, and to assess the impact of management and outcome, irrespective of aetiology. Fifty-five patients were included, 23 with and 32 without underlying major congenital anomalies. Multilevel airway obstruction (usually affecting the nasopharynx, oropharynx, and the trachea) was more common in children with congenital anomalies (91% vs. 41%, p < .001). Consequently, these children required more frequent and earlier surgical management, especially tracheostomy and adenotonsillar surgery.Conclusions: Major congenital anomalies are associated with multilevel airway obstruction and poor functional prognosis. A simple clinical definition considering impact of major congenital anomalies on development and growth may help guide management plans following endoscopic evaluation of the entire airway and flanked by multidisciplinary discussions. What is Known: ⢠Children with major comorbidities display increased disease severity and more prevalent multilevel airway obstruction ⢠Previous studies include both children with acquired and non-acquired forms of airway obstruction; therefore, the actual impact major comorbidities in children with non-acquired causes of airway obstruction remain unclear. What is New: ⢠A total of 42% children in this study population had major comorbidities with and impact on growth and/or psychomotor development, with a higher prevalence of multilevel airway obstruction and worse rates of functional improvement/recovery. ⢠Children with major comorbidities require tracheostomy more often and earlier than those without major comorbidities, and remain tracheostomy-dependent for a longer time.
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Obstrucción de las Vías Aéreas , Obstrucción de las Vías Aéreas/epidemiología , Obstrucción de las Vías Aéreas/etiología , Niño , Estudios de Cohortes , Humanos , Lactante , Estudios Retrospectivos , Tráquea , TraqueostomíaRESUMEN
Peripheral blood cells are an accessible environment in which to visualize exercise-induced alterations in global gene expression patterns. We aimed to identify a peripheral blood mononuclear cell (PBMC) signature represented by alterations in gene expression, in response to a standardized endurance exercise training protocol. In addition, we searched for molecular classifiers of the variability in oxygen uptake (VÌo2). Healthy untrained policemen recruits (n = 13, 25 ± 3 yr) were selected. Peak VÌo2 (measured by cardiopulmonary exercise testing) and total RNA from PBMCs were obtained before and after 18 wk of running endurance training (3 times/wk, 60 min). Total RNA was used for whole genome expression analysis using Affymetrix GeneChip Human Gene 1.0 ST. Data were normalized by the robust multiarray average algorithm. Principal component analysis was used to perform correlations between baseline gene expression and VÌo2peak. A set of 211 transcripts was differentially expressed (ANOVA, P < 0.05 and fold change > 1.3). Functional enrichment analysis revealed that transcripts were mainly related to immune function, cell cycle processes, development, and growth. Baseline expression of 98 and 53 transcripts was associated with the absolute and relative VÌo2peak response, respectively, with a strong correlation (r > 0.75, P < 0.01), and this panel was able to classify the 13 individuals according to their potential to improve oxygen uptake. A subset of 10 transcripts represented these signatures to a similar extent. PBMCs reveal a transcriptional signature responsive to endurance training. Additionally, a baseline transcriptional signature was associated with changes in VÌo2peak. Results might illustrate the possibility of obtaining molecular classifiers of endurance capacity changes through a minimally invasive blood sampling procedure.
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Ejercicio Físico/fisiología , Leucocitos Mononucleares/fisiología , Resistencia Física/genética , Transcriptoma , Adulto , Algoritmos , Prueba de Esfuerzo/métodos , Regulación de la Expresión Génica , Humanos , Masculino , Consumo de Oxígeno/fisiología , Resistencia Física/fisiología , CarreraRESUMEN
The bradykinin receptor B2 (BDKRB2) gene +9/-9 polymorphism has been associated with higher gene transcriptional activity, and characteristics of cardiovascular phenotypes and physical performance. We hypothesized that vasodilation and ACE activity response to exercise training is modulated by BDKRB2 gene. We genotyped 71 healthy volunteers were genotyped for the BDKRB2 gene polymorphism. Heart rate (HR), mean blood pressure (MBP), and forearm blood flow (FBF) were evaluated. Angiotensin-I converting enzyme (ACE) activity was measured by fluorescence. Aerobic training was performed for 16 wk. All variables were reassessed after completion of the training period. In pretraining period, HR, MBP, FBF, and forearm vascular conductance (FVC) were similar among all genotypes. After physical training, the FBF and the FVC response during handgrip exercise such as area under the curve were higher in -9/-9 carriers than the other two groups. However, there were no changes in HR and MBP for all three groups. In addition, in posttraining period the decrease in ACE activity was higher in the -9/-9 group than the other two groups. These results suggest that reflex muscle vasodilation and ACE activity in response to exercise training are modulated by BDKRB2 gene +9/-9 polymorphism in healthy individuals.
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Ejercicio Físico , Antebrazo/irrigación sanguínea , Peptidil-Dipeptidasa A/metabolismo , Polimorfismo Genético , Receptor de Bradiquinina B2/genética , Adulto , Regulación de la Expresión Génica , Genotipo , Humanos , Masculino , Músculo Liso Vascular/citología , Miocitos del Músculo Liso/metabolismo , Peptidil-Dipeptidasa A/sangre , Flujo Sanguíneo Regional , Adulto JovenRESUMEN
NADPH oxidase p22phox subunit is responsible for the production of reactive oxygen species in the vascular tissue. The C242T polymorphism in the p22phox gene has been associated with diverse coronary artery disease phenotypes, but the findings about the protective or harmful effects of the T allele are still controversial. Our main aim was to assess the effect of p22phox C242T genotypes on arterial stiffness, a predictor of late morbidity and mortality, in individuals from the general population. We randomly selected 1,178 individuals from the general population of Vitoria City, Brazil. Genotypes for the C242T polymorphism were detected by PCR-RFLP, and pulse wave velocity (PWV) values were measured with a noninvasive automatic device Complior. p22phox and TNF-α gene expression were quantified by real-time PCR in human arterial mammary smooth muscle cells. In both the entire and nonhypertensive groups: individuals carrying the TT genotype had higher PWV values and higher risk for increased arterial stiffness [odds ratio (OR) 1.93, 95% confidence interval (CI) 1.27-2.92 and OR 1.78, 95% CI 1.07-2.95, respectively] compared with individuals carrying CC+CT genotypes, even after adjustment for covariates. No difference in the p22phox gene expression according C242T genotypes was observed. However, TNF-α gene expression was higher in cells from individual carrying the T allele, suggesting that this genetic marker is associated with functional phenotypes at the gene expression level. In conclusion, we suggest that p22phox C242T polymorphism is associated with arterial stiffness evaluated by PWV in the general population. This genetic association shed light on the understanding of the genetic modulation on vascular dysfunction mediated by NADPH oxidase.
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NADPH Oxidasas/genética , Polimorfismo Genético , Factor de Necrosis Tumoral alfa/genética , Rigidez Vascular/genética , Adulto , Arterias/metabolismo , Arterias/patología , Arterias/fisiopatología , Presión Sanguínea , Brasil , Células Cultivadas , Estudios Transversales , Femenino , Expresión Génica , Frecuencia de los Genes , Genotipo , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Flujo Pulsátil , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
Antimicrobial peptides (AMPs) can efficiently control different microbial pathogens and show the potential to be applied in clinical practice and livestock production. In this work, the aim was to isolate AMP-producing ruminal streptococci and to characterize their genetic features through whole-genome sequencing. We cultured 463 bacterial isolates from the rumen of Nelore bulls, 81 of which were phenotypically classified as being Streptococcaceae. Five isolates with broad-range activity were genome sequenced and confirmed as being Streptococcus lutetiensis. The genetic features linked to their antimicrobial activity or adaptation to the rumen environment were characterized through comparative genomics. The genome of S. lutetiensis UFV80 harbored a putative CRISPR-Cas9 system (Type IIA). Computational tools were used to discover novel biosynthetic clusters linked to the production of bacteriocins. All bacterial genomes harbored genetic clusters related to the biosynthesis of class I and class II bacteriocins. SDS-PAGE confirmed the results obtained in silico and demonstrated that the class II bacteriocins predicted in the genomes of three S. lutetiensis strains had identical molecular mass (5197 Da). These results demonstrate that ruminal bacteria of the Streptococcus bovis/equinus complex represent a promising source of novel antimicrobial peptides.
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INTRODUCTION: Previous studies have linked angiotensin-converting enzyme ( ACE) insertion (I)/deletion (D) polymorphism (II, ID and DD) to physical performance. Moreover, ACE has two catalytic domains: NH2 (N) and COOH (C) with distinct functions, and their activity has been found to be modulated by ACE polymorphism. The aim of the present study is to investigate the effects of the interaction between aerobic exercise training (AET) and ACE I/D polymorphism on ACE N- and C-domain activities and vascular reactivity in humans. MATERIALS AND METHODS: A total of 315 pre-selected healthy males were genotyped for II, ID and DD genotypes. Fifty completed the full AET (II, n = 12; ID, n = 25; and DD, n = 13), performed in three 90-minute sessions weekly, in the four-month exercise protocol. Pre- and post-training resting heart rate (HR), peak O2 consumption (VO2 peak), mean blood pressure (MBP), forearm vascular conduction (FVC), total circulating ACE and C- and N-domain activities were assessed. One-way ANOVA and two -way repeated-measures ANOVA were used. RESULTS: In pre-training, all variables were similar among the three genotypes. In post-training, a similar increase in FVC (35%) was observed in the three genotypes. AET increased VO2 peak similarly in II, ID and DD (49±2 vs. 57±1; 48±1 vs. 56±3; and 48±5 vs. 58±2 ml/kg/min, respectively). Moreover, there were no changes in HR and MBP. The DD genotype was also associated with greater ACE and C-domain activities at pre- and post-training when compared to II. AET decreased similarly the total ACE and C-domain activities in all genotypes, while increasing the N-domain activity in the II and DD genotypes. However, interestingly, the measurements of N-domain activity after training indicate a greater activity than the other genotypes. These results suggest that the vasodilation in response to AET may be associated with the decrease in total ACE and C-domain activities, regardless of genotype, and that the increase in N-domain activity is dependent on the DD genotype. CONCLUSIONS: AET differentially affects the ACE C- and N-domain activities, and the N-domain activity is dependent on ACE polymorphism.
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Vasos Sanguíneos/patología , Ejercicio Físico/fisiología , Estudios de Asociación Genética , Mutación INDEL/genética , Peptidil-Dipeptidasa A/química , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético , Presión Sanguínea/genética , Genotipo , Hemodinámica , Humanos , Masculino , Consumo de Oxígeno , Peptidil-Dipeptidasa A/sangre , Dominios Proteicos , Adulto JovenRESUMEN
Naturally occurring myringostapediopexy frequently results in minimal hearing loss and is asymptomatic. Management decisions in such ears, however, often hinge on an appraisal of evolution toward cholesteatoma. The study of the contralateral ear has been used by our research team to infer the progression of chronic otitis media. This cross-sectional, comparative study describes the clinical findings of the contralateral ear in a series of patients with myringostapediopexy. This study included a historical and current sample of 46 patients divided into a pediatric (≤18 years) and an adult group. Patient distribution according to sex was similar (52.2% male), and 56.5% were adults. Mean conductive hearing loss ranged from 14.1 to 21.2 dB in ears with myringostapediopexy and from 16.0 to 26.6 dB in the contralateral ears according to the frequency assessed. The contralateral ear was normal in only 19.6% of the cases of myringostapediopexy. Central tympanic membrane perforation was found in 6.5% of the cases; perforation-retraction, in 17.4%; moderate or severe retraction, in 28.3%; and cholesteatoma, in 28.3%. The prevalence of cholesteatoma in the contralateral ear in the pediatric and adult groups was not significantly different (p = 0.5; χ(2) test). The presence of significant abnormalities, particularly cholesteatoma, in the contralateral ears suggests a probable unfavorable progression in cases of myringostapediopexy and may influence management decisions.
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Toma de Decisiones , Miringoplastia/psicología , Cirugía del Estribo/psicología , Estribo/anomalías , Membrana Timpánica/anomalías , Adolescente , Adulto , Niño , Preescolar , Colesteatoma del Oído Medio/epidemiología , Colesteatoma del Oído Medio/etiología , Colesteatoma del Oído Medio/cirugía , Estudios Transversales , Femenino , Pérdida Auditiva Conductiva/etiología , Pérdida Auditiva Conductiva/psicología , Pérdida Auditiva Conductiva/cirugía , Humanos , Lactante , Recién Nacido , Masculino , Miringoplastia/métodos , Cirugía del Estribo/métodos , Membrana Timpánica/cirugía , Adulto JovenRESUMEN
Nitric oxide (NO), primarily identified as an endothelium-derived relaxing factor, is a free radical that signals different biological processes. The identification of NO synthase (NOS) isoforms and the subsequent characterization of the mechanisms of cell activation of the enzymes permitted the partial understanding of both the physiological interactions and of the mechanisms of the diseases in which NO is involved. Mainly expressed in the vascular endothelium, the endothelial NOS isoform (eNOS) plays an important role in the regulation of vascular reactivity and in the development and progression of atherosclerosis. The purpose of this review is to contextualize the reader about the eNOS structure and its mechanisms of cell activation. In view of the advances in molecular biology, we will also address the known mechanisms of gene expression regulation and the role of variants on the genetic code of eNOS associated with cardiovascular phenotypes. Although the importance of NO as an atheroprotective molecule is recognized, our focus will be the review of the literature on NO and its participation in the modulation of the muscle vasodilatation phenotype.
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Enfermedades Cardiovasculares/fisiopatología , Endotelio Vascular/fisiopatología , Óxido Nítrico Sintasa de Tipo III/fisiología , Óxido Nítrico Sintasa/fisiología , Óxido Nítrico/fisiología , Factores Relajantes Endotelio-Dependientes/metabolismo , Activación Enzimática , Regulación Enzimológica de la Expresión Génica/fisiología , Humanos , Músculos/irrigación sanguínea , Óxido Nítrico/genética , Óxido Nítrico Sintasa de Tipo III/genética , Fenotipo , Vasoconstricción/fisiología , Vasodilatación/fisiologíaRESUMEN
Candidate gene association studies in cardiovascular diseases have provided evidence on the molecular basis of phenotypic differences between individuals. The comprehension of how inherited genetic variants are able to affect protein functions has increased the knowledge of how genes interact with environment in order to modulate a particular phenotype. Although it is known that the human genome contains more than 10 million SNPs, only a minor part of them are supposed to be functional. A causative SNP in a particular gene may confer a small to moderate effect in complex phenotypes, such as functions important to cardiovascular homeostasis. This paper is a selective review of the literature on the evidence for interactions between vascular function and naturally occurring genetic variants in endothelial nitric oxide synthase (eNOS) and beta-2 adrenergic receptor (ADRB2), two genes among those influencing vascular phenotype and examples for which there is a strong evidence base. eNOS and ADRB2 will be characterized, as well as the mechanisms by which the enzyme and the receptor work to control vascular responses will be described. Understanding the molecular mechanisms underlying gene-mediated vascular function and their modification by genetic variants is expected to result in a better comprehension about individual's phenotypic differences.
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PURPOSE: Previous studies showed that anabolic androgenic steroids (AAS) increase vascular resistance and blood pressure (BP) in humans. In this study, we tested the hypotheses 1) that AAS users would have increased muscle sympathetic nerve activity (MSNA) and reduced forearm blood flow (FBF) compared with AAS nonusers and 2) that there would be an association between MSNA and 24-h BP. METHODS: Twelve AAS users aged 31 +/- 2 yr (means +/- SE) and nine age-matched AAS nonusers aged 29 +/- 2 yr participated in the study. All individuals were involved in strength training for at least 2 yr. AAS was determined by urine test (chromatography-mass spectrometry). MSNA was directly measured by microneurography technique. FBF was measured by venous occlusion plethysmography. BP monitoring consisted of measures of BP for 24 h. RESULTS: MSNA was significantly higher in AAS users than that in AAS nonusers (29 +/- 3 vs 20 +/- 1 bursts per minute, P = 0.01). FBF (1.92 +/- 0.17 vs 2.77 +/- 0.24 mL x min(-1) x 100 mL(-1), P = 0.01) and forearm vascular conductance (2.01 +/- 0.17 vs 2.86 +/- 0.31 U, P = 0.02) were significantly lower in AAS users than that in AAS nonusers. Systolic (131 +/- 4 vs 120 +/- 3 mm Hg, P = 0.001), diastolic (74 +/- 4 vs 68 +/- 3 mm Hg, P = 0.02), and mean BP (93 +/- 4 vs 86 +/- 3 mm Hg, P = 0.005) and heart rate (74 +/- 3 vs 68 +/- 3 bpm, P = 0.02) were significantly higher in AAS users when compared with AAS nonusers. Further analysis showed that there was a significant correlation between MSNA and 24-h mean BP (r = 0.75, P = 0.002). CONCLUSIONS: AAS increases MSNA and reduces muscle blood flow in young individuals. In addition, the increase in BP levels in AAS users is associated with augmented sympathetic outflow. These findings suggest that AAS increases the susceptibility for cardiovascular disease in humans.
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Anabolizantes/efectos adversos , Hipertensión/inducido químicamente , Sistema Nervioso Simpático/efectos de los fármacos , Adulto , Anabolizantes/administración & dosificación , Anabolizantes/orina , Presión Sanguínea/efectos de los fármacos , Antebrazo/irrigación sanguínea , Humanos , MasculinoRESUMEN
Atletas de elite são reconhecidos como fenômenos esportivos e o potencial para atingir níveis superiores de performance no esporte está parcialmente sob o controle de genes. A excelência atlética é essencialmente multifatorial e determinada por complexas interações entre fatores ambientais e genéticos. Existem aproximadamente 10 milhões de variantes genéticas dispersas por todo o genoma humano e uma parcela destas variantes têm demonstrado influenciar a responsividade ao treinamento físico. Os fenótipos de performance física humana parecem ser altamente poligênicos e alguns estudos têm comprovado a existência de raras combinações genotípicas em atletas. No entanto, os mecanismos pelos quais genes se interagem para amplificar a performance física são desconhecidos. O conhecimento sobre os genes que influenciam a treinabilidade somado ao potencial uso indevido dos avanços da terapia gênica, como a possível introdução de genes em células de atletas, fez surgir o termo doping genético, um novo e censurado método de amplificação da performance física, além dos limites fisiológicos. Aumentos na hipertrofia muscular esquelética e nos níveis de hematócrito estão sendo conseguidos através da manipulação da expressão de genes específicos, mas a grande parte das impressionáveis alterações foi obtida em experimentação com animais de laboratório. A compreensão dos resultados científicos envolvendo genética, performance física humana e doping genético é uma difícil tarefa. Com o propósito de evitar a contínua má interpretação e propagação de conceitos errôneos, esta revisão, intencionalmente, vem discutir as evidências científicas produzidas até o momento sobre o tema, permitindo a compreensão do atual "estado da arte".
Elite athletes have always been referred to as sports phenomena and their potential to reach higher performance levels in sports, far beyond normal range, is partially under the control of genes. Athletic excellence is essentially multifactorial and it is determined by a complex interaction of environmental and genetic factors. There are almost 10 million genetic variants spread throughout the entire human genome and some of them have been proven to affect physical training responsiveness. The human performance phenotypes seem to be highly polygenic and previous research has found rare genotype combinations in elite athletes. Nevertheless, the mechanisms through which genes interact with each other in order to improve physical performance are unknown. The knowledge on genes that influence trainability added to the potential misuse of advances in gene therapy, such as the possible introduction of genes into athlete cells, gave way to the terminology gene doping, a new and prohibited method of enhancing athletic performance above physiological limits. Increase in skeletal muscle hypertrophy and haematocrit levels has been achieved by the manipulation of the expression of specific genes, but great part of impressive changes in these phenotypes have been obtained using laboratory animals. The understanding on the scientific studies enclosing genetics, human physical performance and gene doping is an intricate task. This review intentionally highlights the scientific evidence that has been produced so far on this popular topic, with the purpose to avoid continuous misinterpretation and spreading of faulty concepts allowing hence the comprehension on the current "state of the art" in this field.
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Mejoramiento Genético , Aptitud Genética , Variación Genética , Genética , FenotipoRESUMEN
O óxido nítrico (NO), primariamente identificado como um fator relaxante derivado do endotélio, é um radical livre atuante na sinalização de diferentes processos biológicos. A identificação das isoformas das sintases do NO (NOS) e a subsequente caracterização dos mecanismos de ativação celulares das enzimas possibilitaram tanto a compreensão de parte das interações fisiológicas como a compreensão de parte dos mecanismos de doença, na qual o NO está envolvido. A isoforma endotelial da NOS (eNOS), expressa principalmente no endotélio vascular, desempenha importante papel na regulação da reatividade vascular e no desenvolvimento e na progressão da aterosclerose. Esta revisão tem o propósito de contextualizar o leitor sobre a estrutura da eNOS e seus mecanismos de ativação celular. Tendo em vista os avanços da biologia molecular, trataremos ainda dos conhecidos mecanismos de regulação da expressão gênica e do papel de variantes no código genético da eNOS associados a fenótipos cardiovasculares. Embora se reconheça a importância do NO como molécula ateroprotetora, nossa atenção estará voltada à revisão de literatura envolvendo NO e sua participação na modulação do fenótipo de vasodilatação muscular.
Nitric oxide (NO), primarily identified as an endothelium-derived relaxing factor, is a free radical that signals different biological processes. The identification of NO synthase (NOS) isoforms and the subsequent characterization of the mechanisms of cell activation of the enzymes permitted the partial understanding of both the physiological interactions and of the mechanisms of the diseases in which NO is involved. Mainly expressed in the vascular endothelium, the endothelial NOS isoform (eNOS) plays an important role in the regulation of vascular reactivity and in the development and progression of atherosclerosis. The purpose of this review is to contextualize the reader about the eNOS structure and its mechanisms of cell activation. In view of the advances in molecular biology, we will also address the known mechanisms of gene expression regulation and the role of variants on the genetic code of eNOS associated with cardiovascular phenotypes. Although the importance of NO as an atheroprotective molecule is recognized, our focus will be the review of the literature on NO and its participation in the modulation of the muscle vasodilatation phenotype.
El óxido nítrico (NO), primariamente identificado como un factor relajante derivado del endotelio, es un radical libre actuante en la señalización de diferentes procesos biológicos. La identificación de las isoformas de las sintasas del NO (NOS) y la subsecuente caracterización de los mecanismos de activación celulares de las enzimas posibilitaron tanto la comprensión de parte de las interacciones fisiológicas como la comprensión de parte de los mecanismos de enfermedad, en la cual el NO está envuelto. La isoforma endotelial de la NOS (eNOS), expresada principalmente en el endotelio vascular, desempeña importante papel en la regulación de la reactividad vascular y en el desarrollo y en la progresión de la aterosclerosis. Esta revisión tiene el propósito de contextualizar al lector sobre la estructura de la eNOS y sus mecanismos de activación celular. Teniendo en vista los avances de la biología molecular, trataremos aun de los conocidos mecanismos de regulación de la expresión génica y del papel de variantes en el código genético de la eNOS asociados a fenotipos cardiovasculares. Aunque se reconozca la importancia del NO como molécula ateroprotectora, nuestra atención estará volcada a la revisión de literatura envolviendo NO y su participación en la modulación del fenotipo de vasodilatación muscular.
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Humanos , Enfermedades Cardiovasculares/fisiopatología , Endotelio Vascular/fisiopatología , Óxido Nítrico Sintasa de Tipo III/fisiología , Óxido Nítrico Sintasa/fisiología , Óxido Nítrico/fisiología , Activación Enzimática , Factores Relajantes Endotelio-Dependientes/metabolismo , Regulación Enzimológica de la Expresión Génica/fisiología , Músculos/irrigación sanguínea , Óxido Nítrico Sintasa de Tipo III/genética , Óxido Nítrico/genética , Fenotipo , Vasoconstricción/fisiología , Vasodilatación/fisiologíaRESUMEN
Este artigo direciona-se à revisão de publicações sobre os "genes candidatos" e sua relação com os fenótipos de performance física humana em atletas de elite. Nosso objetivo é trazer ao conhecimento do leitor informações atualizadas sobre marcadores e variantes genéticas que podem levar certos indivíduos a sobressair-se em modalidades esportivas específicas. Além disso, serão descritos os mecanismos pelos quais um gene pode contribuir para a performance física, detalhando em cada momento as propriedades celulares, fisiológicas e moleculares do sistema em questão. Por esse motivo, limitamos nossa discussão a um número pequeno de variantes genéticas: polimorfismos R577X do gene da alfa-actinina 3 (ACTN3), C34T do gene da AMP deaminase (AMPD1), I/D da enzima conversora de angiotensina (ECA), -9/+9 do receptor beta2 de bradicinina (BDKRB2) e 985+185/1170 do gene da enzima creatina quinase M (CK-M). Esperamos com este artigo informar e sensibilizar o leitor para o fato de que a identificação de talentos e a otimização do potencial individual do atleta, com conseqüente sucesso no esporte, estão diretamente associados a variantes genéticas.
This article is focused on the review of studies looking for "candidate genes" and their relationship with physical performance phenotypes in elite athletes. Our goal is to bring to readers what makes some individuals excel in some sports modalities, based on variants in genetic loci and markers. In addition, we assume the necessity to describe by what mechanisms a gene can contribute in physical performance, detailing in each part the cellular, physiological and molecular pathways involved. For this reason, we limited our discussion to a small number of genetic variants: polymorphisms R577X alpha-actinin 3 gene (ACTN3), C34T AMP deaminase gene (AMPD1), I/D angiotensin converting enzyme gene (ACE), -9/+9 beta2 bradykinin receptor gene (BDKRB2), and 985+185/ 1170 creatine kinase M gene (CK-M). We hope that this article bring some new information and refine the knowledge to the fact that the process of talent identification and an individual athletic potential maximization resulting in sport success are strongly associated with genetic variants.