Acute heat stress and dietary methionine effects on IGF-I, GHR, and UCP mRNA expression in liver and muscle of quails.

This study evaluated the expression of insulin-like growth factor I (IGF-I), growth hormone receptor (GHR), and uncoupling protein (UCP) mRNA in muscle and liver of quails that were in thermal comfort or exposed to heat stress and that were fed diets with or without methionine supplementation. Meat quails were fed a diet that either met the nutritional demands for methionine (MS) or did not meet this demand (methionine-deficient diet, MD). The animals were either kept at a thermal comfort temperature (25°C) or exposed to heat stress (38°C for 24 h starting on the 6th day). RNA was extracted from liver and breast muscle, and cDNA was synthesized and amplified using quantitative reverse transcription-polymerase chain reaction. Animals that were fed the MS diet and remained at the thermal comfort temperature exhibited increased IGF-I mRNA expression in the liver (0.56 AU). The GHR mRNA expression in the liver and muscle was influenced by both the study variables. Animals receiving the MS diet showed higher GHR expression, while increased expression was observed in animals at the thermal comfort temperature. The UCP mRNA expression in the muscle was influenced by both methionine supplementation and heat stress. Higher expression was observed in animals that received the MD diet (2.29 vs 3.77 AU) and in animals kept in thermal comfort. Our results suggest that heat stress negatively affects the expression of growth-related genes and that methionine supplementation is necessary to appropriately maintain the levels of IGF-I, GHR, and UCP transcripts for animal metabolism

Expressão de genes ligados à maciez da carne em bovinos da raça Nelore.

Dentre as características da carne, a maciez é a mais desejada pelo consumidor. Bovinos de origem Bos taurus indicus são conhecidos por produzirem carne de menor maciez quando comparado às raças de origem taurina. O objetivo do estudo foi avaliar a expressão dos genes codificadores de proteínas da família ?heat shock? (CRYAB, HSPB1 e DNAJA1) em bovinos da raça Nelore (Bos taurus indicus). A expressão do gene CRYAB foi associada à maciez aos sete (P=0,003) e 14 dias (P=0,01) de maturação, e do gene HSPB1 associado à força de cisalhamento 24 horas (P=0,04) após abate e aos 7 (P=0,003) e 14 dias (P=003) de maturação. Baseado nos resultados, é possível sugerir que os genes CRYAB e HSBP1 podem ser potenciais marcadores de maciez da carne em bovinos da raça Nelore

Usefulness of the organ culture system in the in vitro diagnosis of coeliac disease: A multicentre study

Objective. Diagnosis of coeliac disease is based on the presence of villous atrophy which recovers following a gluten-free diet. The presence of circulating antiendomysial antibodies as well as their disappearance after a gluten-free diet supports the diagnosis. It has also been demonstrated that antiendomysial antibodies are detectable in supernatants of cultured intestinal biopsies from patients with coeliac disease. The objective of this study was to compare the histology and antiendomysial antibodies in culture supernatants of intestinal biopsies to validate the in vitro organ culture system as a future diagnostic tool for coeliac disease. Material and methods. Seventy-five antiendomysial serum-positive patients on a gluten-containing diet were evaluated. Patients underwent endoscopy with 5 biopsy fragments: 3 for histology, 1 cultured with and the other without gliadin-peptide activator. Antiendomysial antibodies were evaluated in all culture supernatants. Results. Sixty-eight patients had evidence of villous atrophy, while 73 out of 75 were positive to the organ culture system. The agreement rate between organ culture and histology results was 94%. Conclusions. As all the centres participating in the study obtained good agreement between organ culture and histology results, the new system could be considered a reliable tool for the diagnosis of coeliac disease. Nevertheless, it is possible to highlight cases with an organ culture-positive and -negative histology. This feature could be of considerable interest because, as the sensitivity of organ culture seems to be greater than the initial histology, the new system might be useful in uncertain cases where the risk of missing the diagnosis of coeliac disease is high

Caracterização molecular de bovinos cruzados ½ Angus ½ Nelore e ½ Canchim ½ Nelore.

Os cruzamentos entre raças de bovinos têm sido uma alternativa para a exploração de características de produção e qualidade da carne de raças de Bos taurus especializadas e da adaptação aos trópicos de raças de Bos indicus. A raça de bovinos Aberdeen Angus tem sido utilizada em cruzamentos com Nelore, particularmente por suas características favoráveis de qualidade da carne, além de boa fertilidade, longevidade, precocidade, rusticidade e facilidade de parto. A raça Canchim, constituída por 5/8 Charolês e 3/8 Zebu, apresenta-se como excelence altemativa para cruzamentos pois permite a utilização de couros em monta natural em regime de pastagens. No presente trabalho, produtos do cruzamento de touros Aberdeen Angus (TA) e Canchim (RC) com fêmeas da raça Nelore foram caracterizados quanto a cinco marcadores microssatelites. Os marcadores foram amplificados a partir de 50 ng de DNA genômico e analisados em um sequênciador ABI Prism 3100 .A:vant (Applied Biosystems). Os alemos foram identificados pelo programa Genotyper (Applied Biosyscems), a partir do que foram estimadas as frequências alélicas, heterozigosidade, diversidade gênica, conteúdo de informaçãopolim6rfica'pelo software Cervus e a distancia genética de Nei (1972), utilizando o software NTSYS PC. O numero de alelos variou de 2 a 17, com media de 8,2 nos animais TA e 9,8 nos animais RC. As medias de heterozigosidade foram de 0,7472 e 0,695 para os animais TA e RC, respectivamente. As medias de diversidade gênica foram de 0,756 e 0,6268, na mesma ordem, sugerindo. A distancia genética entre ''as duas populações foi de 0,2273. Essa distancia e comparável a distancia observada entre os grupos Bos taurus e Bas indicus e deve refletir a distancia entre os couros das raças Aberdeen Angus e Canchim, uma vez que nas duas populações, a raça materna foi a mesma

A relationship between Single Nucleotide Polymorphism (SNP) in HSD11β1 and ADIPOQ genes and obesity related features in children and adolescents submitted on physical exercises

Obesity have overloaded the public health system and it is considered a multifactorial trait. This study aimed to verify if Single Nucleotide Polymorphisms (SNP) in ADIPOQ (rs1501299) and HSD11β1 (rs12086634) genes influence the anthropometric and biochemical outcomes (Body Mass Index (BMI), Abdominal Circumference (AC), Low Density Lipoprotein (LDL-C), High Density Lipoprotein (HDL-C), Triglycerides (TG), Total Cholesterol (TC) and Glucose (Glu)) before and after practicing physical exercises training modalities, in a sample of 126 Southern Brazilian children and adolescents. Genotyping were performed by Taqman allelic discrimination. T carriers of rs1501299 had a higher BMI reduction (b*=0.28±0.12; p=1.70.10-2) and TT genotype of rs12086634 influence on AC reduction (b*=-0.33±0.13; p=1.24.10-2), independent of sex, age and modality of physical exercise. Ultimately, we observed an association of SNP of ADIPOQ and HSD11β1 gene with anthropometric variables early in life and the importance of physical exercise on biochemical and obesity related features.La obesidad ha sobrecargado el sistema de salud pública y es una característica multifactorial. Este estudio tuvo como objetivo verificar si los polimorfismos de nucleótido único (SNP) en los genes ADIPOQ (rs1501299) y HSD11β1 (rs12086634) influyen en los resultados antropométricos y bioquímicos (Índice de Masa Corporal (IMC), Circunferencia Abdominal (CA), Lipoproteínas de Baja Densidad (LDL-C), Lipoproteínas de Alta Densidad (HDL-C), Triglicéridos (TG), Colesterol Total (TC) y Glucosa (Glu)) antes y después de practicar diferentes tipos de ejercicios físicos en una muestra de 126 niños y adolescentes brasileños. Los SNPs fueron idenficados mediante discriminación alélica usando sondas Taqman. Los portadores del alelo T del polimofismo rs1501299 del gen ADIPOQ tuvieron una mayor reducción del IMC (b*=0,28±0,12; p=1,70.10-2) y el genotipo TT del polimorfismo rs12086634 del gen HSD11β1 influencia en la reducción de AC (b*=-0,33±0,13; p=1,24.10-2), independiente de sexo, edad y modalidad de ejercicio físico. Por fin, observamos una asociación entre los SNPs de los genes ADIPOQ y HSD11β1 con variables antropométricas en las primeras etapas de la vida, así como la importancia del ejercicio físico sobre características bioquímicas y relacionadas con la obesidad.Obesity have overloaded the public health system and it is considered a multifactorial trait. This study aimed to verify if Single Nucleotide Polymorphisms (SNP) in ADIPOQ (rs1501299) and HSD11β1 (rs12086634) genes influence the anthropometric and biochemical outcomes (Body Mass Index (BMI), Abdominal Circumference (AC), Low Density Lipoprotein (LDL-C), High Density Lipoprotein (HDL-C), Triglycerides (TG), Total Cholesterol (TC) and Glucose (Glu)) before and after practicing physical exercises training modalities, in a sample of 126 Southern Brazilian children and adolescents. Genotyping were performed by Taqman allelic discrimination. T carriers of rs1501299 had a higher BMI reduction (b*=0.28±0.12; p=1.70.10-2) and TT genotype of rs12086634 influence on AC reduction (b*=-0.33±0.13; p=1.24.10-2), independent of sex, age and modality of physical exercise. Ultimately, we observed an association of SNP of ADIPOQ and HSD11β1 gene with anthropometric variables early in life and the importance of physical exercise on biochemical and obesity related features

Wolfram Syndrome: New Mutations, Different Phenotype

BACKGROUND: Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD". The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic β-cells and neurons. WS is a rare disease, with an estimated prevalence of 1/550.000 children, with a carrier frequency of 1/354. The aim of our study was to determine the genotype of WS patients in order to establish a genotype/phenotype correlation. METHODOLOGY/PRINCIPAL FINDINGS: We clinically evaluated 9 young patients from 9 unrelated families (6 males, 3 females). Basic criteria for WS clinical diagnosis were coexistence of insulin-treated diabetes mellitus and optic atrophy occurring before 15 years of age. Genetic analysis for WFS1 was performed by direct sequencing. Molecular sequencing revealed 5 heterozygous compound and 3 homozygous mutations. All of them were located in exon 8, except one in exon 4. In one proband only an heterozygous mutation (A684V) was found. Two new variants c.2663 C>A and c.1381 A>C were detected. CONCLUSIONS/SIGNIFICANCE: Our study increases the spectrum of WFS1 mutations with two novel variants. The male patient carrying the compound mutation [c.1060_1062delTTC]+[c.2663 C>A] showed the most severe phenotype: diabetes mellitus, optic atrophy (visual acuity 5/10), deafness with deep auditory bilaterally 8000 Hz, diabetes insipidus associated to reduced volume of posterior pituitary and pons. He died in bed at the age of 13 years. The other patient carrying the compound mutation [c.409_424dup16]+[c.1381 A>C] showed a less severe phenotype (DM, OA)

Gene Co-expression Analysis Indicates Potential Pathways and Regulators of Beef Tenderness in Nellore Cattle

Beef tenderness, a complex trait affected by many factors, is economically important to beef quality, industry, and consumer’s palatability. In this study, RNA-Seq was used in network analysis to better understand the biological processes that lead to differences in beef tenderness. Skeletal muscle transcriptional profiles from 24 Nellore steers, selected by extreme estimated breeding values (EBVs) for shear force after 14 days of aging, were analyzed and 22 differentially expressed transcripts were identified. Among these were genes encoding ribosomal proteins, glutathione transporter ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), and synaptotagmin IV (SYT4). Complementary co-expression analyses using Partial Correlation with Information Theory (PCIT), Phenotypic Impact Factor (PIF) and the Regulatory Impact Factor (RIF) methods identified candidate regulators and related pathways. The PCIT analysis identified ubiquitin specific peptidase 2 (USP2), growth factor receptor-bound protein 10 (GBR10), anoctamin 1 (ANO1), and transmembrane BAX inhibitor motif containing 4 (TMBIM4) as the most differentially hubbed (DH) transcripts. The transcripts that had a significant correlation with USP2, GBR10, ANO1, and TMBIM4 enriched for proteasome KEGG pathway. RIF analysis identified microRNAs as candidate regulators of variation in tenderness, including bta-mir-133a-2 and bta-mir-22. Both microRNAs have target genes present in the calcium signaling pathway and apoptosis. PIF analysis identified myoglobin (MB), enolase 3 (ENO3), and carbonic anhydrase 3 (CA3) as potentially having fundamental roles in tenderness. Pathways identified in our study impacted in beef tenderness included: calcium signaling, apoptosis, and proteolysis. These findings underscore some of the complex molecular mechanisms that control beef tenderness in Nellore cattle