Polymorphisms of APOE and APOB genes and dyslipidemias in a South Brazilian Cohort

Dyslipidemias are closely associated to the development of cardiovascular and cerebrovascular diseases, and therefore of great importance in public health. Many genes influence lipid levels, such as APOE and APOB. The present study aimed to investigate the effects of APOE gene alleles (rs7412: C>T and rs429358: T>C), and R3500Q mutation of APOB gene (rs5742904: G>A) in lipid levels in a South Brazilian cohort. 214 individuals were analyzed and the frequencies of APOE ε2, ε3 and ε4 alleles were found respectively as 9.25 ± 0.4625; 70.5 ± 3.525  and 20.25%± 1.401, while the frequency of R3500Q mutation of the APOB gene was 4.46 ± 1.00%. The ε4 allele was significantly more frequent in subjects with higher TC (Total Cholesterol) and LDL-C levels, while significantly higher frequency of the ε2 allele was found in individuals with higher HDL-C levels. The R3500Q mutation was suggested as a risk factor for higher TC levels, regardless gender and age (β = 21.326 ± 10377.78, p = 0.001).Las dislipidemias están asociadas con el desarrollo de enfermedades cardiovasculares y cerebrovasculares y, por tanto, son de gran importancia en la salud pública. Muchos genes influyen en los niveles de lípidos, como APOE y APOB. El presente estudio tuvo como objetivo investigar los efectos de los alelos del gen APOE (rs7412: C>T y rs429358: T>C) y la mutación R3500Q del gen APOB (rs5742904: G>A) sobre los niveles de lípidos en una cohorte del sur de Brasil. Se analizaron 214 individuos y se encontró que las frecuencias de los alelos APOE ε2, ε3 y ε4 eran respectivamente 9,25 ± 0,4625; 70,5 ± 3,525 y 20,25% ± 1,401, mientras que la frecuencia de la mutación R3500Q del gen APOB fue de 4,46 ± 1,00%. El alelo ε4 fue significativamente más frecuente en individuos con niveles más altos de TC (colesterol total) y LDL-C, mientras que se encontró una frecuencia significativamente mayor del alelo ε2 en individuos con niveles más altos de HDL-C. La mutación R3500Q se sugirió como factor de riesgo para niveles más altos de CT, independientemente del sexo y la edad (β = 21,326 ± 10.377,78, p = 0,001).Dyslipidemias are closely associated to the development of cardiovascular and cerebrovascular diseases, and therefore of great importance in public health. Many genes influence lipid levels, such as APOE and APOB. The present study aimed to investigate the effects of APOE gene alleles (rs7412: C>T and rs429358: T>C), and R3500Q mutation of APOB gene (rs5742904: G>A) in lipid levels in a South Brazilian cohort. 214 individuals were analyzed and the frequencies of APOE ε2, ε3 and ε4 alleles were found respectively as 9.25 ± 0.4625; 70.5 ± 3.525  and 20.25%± 1.401, while the frequency of R3500Q mutation of the APOB gene was 4.46 ± 1.00%. The ε4 allele was significantly more frequent in subjects with higher TC (Total Cholesterol) and LDL-C levels, while significantly higher frequency of the ε2 allele was found in individuals with higher HDL-C levels. The R3500Q mutation was suggested as a risk factor for higher TC levels, regardless gender and age (β = 21.326 ± 10377.78, p = 0.001)

Modulation of gene expression in mice treated with sugar and whey protein isolate / Modulação da expressão gênica em camundongos tratados com açúcar e isolado de proteína de soro de leite

This study compared the effects of three different types of diets (regular diet, high in sugar diet and high in sugar plus whey protein isolate supplementation diet) in mice. After 3 months, gene expression in liver and in adipose tissue was measured. We found that diets influenced in gene expression, but not supplementation. However, supplementation showed an anorectic effect, and protected animals from hepatic steatosis. In addition, the diets did not influence the myeloperoxidase activity in the adipose tissue, showing little influence on the infiltration of white cells in this tissue

Estudo de associaçăo de variaçőes dos genes BCHE (Butirilcolinesterase) e GHRL (Grelina) com obesidade /

Orientadora : Eleidi A. Chautard Freire MaiaCo-orientador : Ricardo L. R. de SouzaDissertaçăo (mestrado) - Universidade Federal do Paraná, Setor de Cięncias Biológicas, Programa de Pós-Graduaçăo em Genética. Defesa: Curitiba, 2008Inclui bibliografi

Estudo de associaçăo de variaçőes dos genes BCHE (Butirilcolinesterase) e GHRL (Grelina) com obesidade /

Orientadora : Eleidi A. Chautard Freire MaiaCo-orientador : Ricardo L. R. de SouzaDissertaçăo (mestrado) - Universidade Federal do Paraná, Setor de Cięncias Biológicas, Programa de Pós-Graduaçăo em Genética. Defesa: Curitiba, 2008Inclui bibliografi

Association analysis between K and-116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population

In Alzheimer's disease (AD) a reduction in acetylcholinesterase (AChE) and an increase in butyrylcholinesterase (BChE) activity are observed. K variant (539T) is the most common variant of the BCHE gene and, although controversial, several studies reported association between K variant and AD. Previous results showed that the K variant alone is not capable of diminishing BChE activity, depending on the presence of the -116A variant. Considering that, we conducted a case-control association study using a clinically well defined group of AD patients (n = 82) and age and sex matched control subjects (EC; n = 78) in order to test the association with these variations of BCHE gene in a Brazilian population. the allele, genotype and haplotype frequencies of the K and the -116A variants of BCHE gene were not significantly different between cases and controls. Although not reaching statistical significance, the results suggested that the presence of -116A variant may have a protective effect against AD. the association of the K variant with AD in a controversial manner in different surveys is probably caused by its linkage disequilibrium with -116A that, by reducing BChE activity, potentially increases cholinergic transmission in comparison with usual genotypes. (C) 2012 Elsevier Ireland Ltd. All rights reserved.Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Univ Fed Parana, Dept Genet, BR-80060000 Curitiba, Parana, BrazilUniversidade Federal de São Paulo, Dept Behav Neurol, São Paulo, BrazilSch Med Marilia, Dept Genet & Mol Biol, Hemoctr, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Behav Neurol, São Paulo, BrazilWeb of Scienc

High-throughput mass spectrometry and bioinformatics analysis of breast cancer proteomic data

Submitted by Manoel Barata ([email protected]) on 2019-08-02T15:42:28Z No. of bitstreams: 1 S2352340919304792-main.pdf: 682363 bytes, checksum: f56c0dc497a7f45ba4247e43ea03c4f5 (MD5)Approved for entry into archive by Manoel Barata ([email protected]) on 2019-08-05T18:53:58Z (GMT) No. of bitstreams: 1 S2352340919304792-main.pdf: 682363 bytes, checksum: f56c0dc497a7f45ba4247e43ea03c4f5 (MD5)Made available in DSpace on 2019-08-05T18:53:58Z (GMT). No. of bitstreams: 1 S2352340919304792-main.pdf: 682363 bytes, checksum: f56c0dc497a7f45ba4247e43ea03c4f5 (MD5) Previous issue date: 2019Universidade Federal do Paraná. Departamento de Genética. Curitiba, PR, Brasil.Universidade Federal do Paraná. Departamento de Genética. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Genômica Funcional. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Genômica Funcional. Curitiba, PR, Brasil / Fundação Oswaldo Cruz. Instituto Carlos Chagas. Mass Spectrometry Facility - RPT02H. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Mass Spectrometry Facility - RPT02H. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Genômica Funcional. Curitiba, PR, Brasil / Fundação Oswaldo Cruz. Instituto Carlos Chagas. Mass Spectrometry Facility - RPT02H. Curitiba, PR, Brasil.International Research Center and A.C. Camargo Cancer Center. São Paulo, SP, Brasil.Hospital Nossa Senhora das Graças. Centro de Doenças da Mama. Curitiba, PR, Brasil.Hospital Nossa Senhora das Graças. Centro de Doenças da Mama. Curitiba, PR, Brasil.Instituto de Pesquisa Pelé Pequeno Príncipe. Curitiba, PR, Brasil. / Lombardi Comprehensive Cancer Center. Georgetown University. Washington D.C., USA.Universidade Federal do Paraná. Departamento de Genética. Curitiba, PR, Brasil.Data present here describe a comparative proteomic analysis among the malignant [primary breast tumor (PT) and axillary metastatic lymph nodes (LN)], and the non-tumor [contralateral (NCT) and adjacent (ANT)] breast tissues. Protein identification and quantification were performed through label-free mass spectrometry using a nano-liquid chromatography coupled to an electrospray ionization-mass spectrometry (nLC-ESI-MS/MS). The mass spectrometry proteomic data have been deposited to the ProteomeXchange Consortium via PRIDE partner repository with the dataset identifier PXD012431. A total of 462 differentially expressed proteins was identified among these tissues and was analyzed in six groups' comparisons (named NCTxANT, PTxNCT, PTxANT, LNxNCT, LNxANT and PTxLN). Proteins at 1.5 log2 fold change were submitted to the Ingenuity® Pathway Analysis (IPA) software version 2.3 (QIAGEN Inc.) to identify biological pathways, disease and function annotation, and interaction networks related to cancer biology. The detailed data present here provides information about the proteome alterations and their role on breast tumorigenesis. This information can lead to novel biological insights on cancer research. For further interpretation of these data, please see our research article 'Quantitative label-free mass spectrometry using contralateral and adjacent breast tissues reveal differentially expressed proteins and their predicted impacts on pathways and cellular functions in breast cancer

Proteomic Analysis of a Rat Streptozotocin Model Shows Dysregulated Biological Pathways Implicated in Alzheimer’s Disease

Alzheimer’s Disease (AD) is an age-related neurodegenerative disorder characterized by progressive memory loss and cognitive impairment, affecting 35 million individuals worldwide. Intracerebroventricular (ICV) injection of low to moderate doses of streptozotocin (STZ) in adult male Wistar rats can reproduce classical physiopathological hallmarks of AD. This biological model is known as ICV-STZ. Most studies are focused on the description of behavioral and morphological aspects of the ICV-STZ model. However, knowledge regarding the molecular aspects of the ICV-STZ model is still incipient. Therefore, this work is a first attempt to provide a wide proteome description of the ICV-STZ model based on mass spectrometry (MS). To achieve that, samples from the pre-frontal cortex (PFC) and hippocampus (HPC) of the ICV-STZ model and control (wild-type) were used. Differential protein abundance, pathway, and network analysis were performed based on the protein identification and quantification of the samples. Our analysis revealed dysregulated biological pathways implicated in the early stages of late-onset Alzheimer’s disease (LOAD), based on differentially abundant proteins (DAPs). Some of these DAPs had their mRNA expression further investigated through qRT-PCR. Our results shed light on the AD onset and demonstrate the ICV-STZ as a valid model for LOAD proteome description

ADRB2 Gln27Glu polymorphism influenced changes in leptin but not body composition or metabolic and other inflammatory parameters after twelve weeks of combined training in overweight adolescents

ABSTRACT Aim To compare the anthropometric, metabolic, and inflammatory parameters of overweight adolescents after 12-weeks of resistance and aerobic training (CT), taking into account the Gln27Glu polymorphism of the β2 adrenergic receptor (ADRB2) gene. Methods Forty-seven adolescents (15.05±1.07y) were assigned to one of four groups, according to the presence or absence of the Glu27 allele: CT (CarrierT n=11; NoncarrierT n=11) or control (CarrierC n=13; NoncarrierC n=12). Body composition, abdominal fat, maturation, fitness, metabolic and lipid profile, inflammatory markers were assessed. The CT consisted of six resistance exercises, followed by 30 min of walking/running at 50-80% VO2max, totaling 60 min/session, three times a week. A mixed-model factorial ANOVA was used to compare variables at baseline and after 12-weeks. Results TC was effective in reducing total fat mass (NoncarrierT ES=.45, CarrierT ES=.27) and subcutaneous abdominal fat (NoncarrierT ES=.48, CarrierT ES=.46) and increasing lean mass (NoncarrierT ES=.58, CarrierT ES=.60) and fitness. CarrierT group showed a reduction in leptin (ES=.49). Conclusion The responses of body composition and physical fitness to TC were not influenced by the presence of the Gln27Glu polymorphism. However, only the Glu27 allele carriers showed reductions in leptin after 12-weeks. Besides, a lack of intervention caused obesogenic effects, especially in Glu27carriers

FTO

Purpose. The rs9939609 SNP (T > A) in FTO gene is associated with obesity and type 2 diabetes. The present study aimed at verifying whether this SNP influenced biochemical outcomes of children and adolescents who are overweight/obese submitted to a program of physical exercise and also if there was influence on basal levels of these biochemical variables. Methods. The sample was composed by 432 children and adolescents grouped in three ways (obese, overweight, and normal weight); of these, 135 children and adoloescents who are obese and overweight were submitted to a physical exercise program for 12 weeks. All were genotyped by TaqMan SNP genotyping assay. Results. The children and adolescents who are overweight/obese and carriers of AA genotype had higher levels of insulin (p=0.03) and HOMA (p=0.007) and lower levels of glucose (p=0.003), but the SNP did not modulate the response to physical exercise. Conclusions. In our study, the rs9939609 AA genotype was associated with parameters related to insulin metabolism but did not interact with physical exercise