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1.
Am J Med Genet A ; : e63631, 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38647383

RESUMO

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

2.
Anal Chem ; 95(30): 11243-11253, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37469028

RESUMO

Matrix-assisted laser desorption ionization mass spectrometry imaging (MALDI-MSI) is a powerful analytical technique that provides spatially preserved detection and quantification of analytes in tissue specimens. However, clinical translation still requires improved throughput, precision, and accuracy. To accomplish this, we created "Chemical QuantArray", a gelatin tissue microarray (TMA) mold filled with serial dilutions of isotopically labeled endogenous metabolite standards. The mold is then cryo-sectioned onto a tissue homogenate to produce calibration curves. To improve precision and accuracy, we automatically remove pixels outside of each TMA well and investigated several intensity normalizations, including the utilization of a second stable isotope internal standard (IS). Chemical QuantArray enables the quantification of several endogenous metabolites over a wide dynamic range and significantly improve over current approaches. The technique reduces the space needed on the MALDI slides for calibration standards by approximately 80%. Furthermore, removal of empty pixels and normalization to an internal standard or matrix peak provided precision (<20% RSD) and accuracy (<20% DEV). Finally, we demonstrate the applicability of Chemical QuantArray by quantifying multiple purine metabolites in 14 clinical tumor specimens using a single MALDI slide. Chemical QuantArray improves the analytical characteristics and practical feasibility of MALDI-MSI metabolite quantification in clinical and translational applications.


Assuntos
Diagnóstico por Imagem , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Calibragem , Padrões de Referência
3.
Proc Natl Acad Sci U S A ; 117(12): 6651-6662, 2020 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-32152116

RESUMO

A role for microglia in neuropsychiatric diseases, including major depressive disorder (MDD), has been postulated. Regulation of microglial phenotype by immune receptors has become a central topic in many neurological conditions. We explored preclinical and clinical evidence for the role of the CD300f immune receptor in the fine regulation of microglial phenotype and its contribution to MDD. We found that a prevalent nonsynonymous single-nucleotide polymorphism (C/T, rs2034310) of the human CD300f receptor cytoplasmic tail inhibits the protein kinase C phosphorylation of a threonine and is associated with protection against MDD, mainly in women. Interestingly, CD300f-/- mice displayed several characteristic MDD traits such as augmented microglial numbers, increased interleukin 6 and interleukin 1 receptor antagonist messenger RNA, alterations in synaptic strength, and noradrenaline-dependent and persistent depressive-like and anhedonic behaviors in females. This behavioral phenotype could be potentiated inducing the lipopolysaccharide depression model. RNA sequencing and biochemical studies revealed an association with impaired microglial metabolic fitness. In conclusion, we report a clear association that links the function of the CD300f immune receptor with MDD in humans, depressive-like and anhedonic behaviors in female mice, and altered microglial metabolic reprogramming.


Assuntos
Anedonia , Transtorno Depressivo Maior/patologia , Inflamação/etiologia , Microglia/patologia , Polimorfismo de Nucleotídeo Único , Receptores Imunológicos/genética , Receptores Imunológicos/fisiologia , Animais , Comportamento Animal , Estudos de Coortes , Transtorno Depressivo Maior/genética , Transtorno Depressivo Maior/metabolismo , Transtorno Depressivo Maior/psicologia , Feminino , Perfilação da Expressão Gênica , Humanos , Inflamação/patologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Microglia/metabolismo , Sinapses
4.
Medicina (Kaunas) ; 57(12)2021 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-34946297

RESUMO

Background and Objectives: Healthcare workers (HCWs) play important roles in mitigating the COVID-19 pandemic and are more likely to become infected with COVID-19. Mexico, among other countries, had a high incidence and prevalence of cases and deaths from this disease. Material and Methods: This retrospective study evaluated the clinical characteristics as well as the geographical distribution of cases, deaths, and active cases of COVID-19 in HCWs and non-HCWs using official information from the Ministry of Health of Mexico. Results: A total of 235,343 cases of COVID-19 were reported in healthcare workers, and 2,094,191 cases were reported in non-healthcare workers. A total of 76.0% of cases in healthcare workers occurred in those who were between 25 and 50 years of age, and 71.4% of deaths occurred in those who were 50 to 69 years of age. Among healthcare workers, the most frequent comorbidities were obesity (15.2%), hypertension (10.9%), and diabetes (6.8%). Nurses were the group with the most cases (39.7%), followed by other healthcare workers (30.6%), physicians (26%), and dentists (1.6%). Physicians were the group with the most deaths (46%), followed by other professionals (30%), nurses (19%), and dentists (3%). Conclusion: These findings are likely the result of healthcare workers in Mexico being at a greater risk of exposure to SARS-CoV-2.


Assuntos
COVID-19 , Pandemias , Idoso , Pessoal de Saúde , Humanos , México/epidemiologia , Estudos Retrospectivos , SARS-CoV-2
5.
Mol Plant Microbe Interact ; 30(7): 557-565, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28548604

RESUMO

Quorum-sensing systems play important roles in host colonization and host establishment of Burkholderiales species. Beneficial Paraburkholderia species share a conserved quorum-sensing (QS) system, designated BraI/R, that controls different phenotypes. In this context, the plant growth-promoting bacterium Paraburkholderia phytofirmans PsJN possesses two different homoserine lactone QS systems BpI.1/R.1 and BpI.2/R.2 (BraI/R-like QS system). The BpI.1/R.1 QS system was previously reported to be important to colonize and produce beneficial effects in Arabidopsis thaliana plants. Here, we analyzed the temporal variations of the QS gene transcript levels in the wild-type strain colonizing plant roots. The gene expression patterns showed relevant differences in both QS systems compared with the wild-type strain in the unplanted control treatment. The gene expression data were used to reconstruct a regulatory network model of QS systems in P. phytofirmans PsJN, using a Boolean network model. Also, we examined the phenotypic traits and transcript levels of genes involved in QS systems, using P. phytofirmans mutants in homoserine lactone synthases genes. We observed that the BpI.1/R.1 QS system regulates biofilm formation production in strain PsJN and this phenotype was associated with the lower expression of a specific extracytoplasmic function sigma factor ecf26.1 gene (implicated in biofilm formation) in the bpI.1 mutant strain.


Assuntos
Arabidopsis/crescimento & desenvolvimento , Biofilmes , Burkholderia/genética , Raízes de Plantas/crescimento & desenvolvimento , Percepção de Quorum/genética , 4-Butirolactona/análogos & derivados , 4-Butirolactona/metabolismo , Arabidopsis/microbiologia , Burkholderia/metabolismo , Burkholderia/fisiologia , Perfilação da Expressão Gênica/métodos , Regulação Bacteriana da Expressão Gênica , Redes Reguladoras de Genes , Interações Hospedeiro-Patógeno , Modelos Genéticos , Mutação , Raízes de Plantas/microbiologia
6.
Curr Opin Biotechnol ; 87: 103113, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38564969

RESUMO

A central goal of synthetic biology is the reprogramming of living systems for predetermined biological functions. While many engineering efforts have been made in living systems, these innovations have been mainly employed with microorganisms or cell lines. The engineering of multicellular organisms including animals remains challenging owing to the complexity of these systems. In this context, microbes, with their intricate impact on animals, have opened new opportunities. Through the utilization of the symbiotic relationships between microbes and animals, researchers have effectively manipulated animals in various ways using engineered microbes. This focused approach has demonstrated its significance in scientific exploration and engineering with model animals, coral preservation and restoration, and advancements in human health.


Assuntos
Bactérias , Simbiose , Biologia Sintética , Animais , Bactérias/genética , Bactérias/metabolismo , Biologia Sintética/métodos
7.
Commun Biol ; 7(1): 367, 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38532074

RESUMO

Nutritional intake influences animal growth, reproductive capacity, and survival of animals. Under nutrition deficiency, animal developmental arrest occurs as an adaptive strategy to survive. However, the nutritional basis and the underlying nutrient sensing mechanism essential for animal regrowth after developmental arrest remain to be explored. In Caenorhabditis elegans, larvae undergo early developmental arrest are stress resistant, and they require certain nutrients to recover postembryonic development. Here, we investigated the developmental arrest in C. elegans feeding on Lactiplantibacillus plantarum, and the rescue of the diapause state with trace supplementation of Escherichia coli. We performed a genome-wide screen using 3983 individual gene deletion E. coli mutants and identified E. coli genes that are indispensable for C. elegans larval growth on originally not nutritionally sufficient bacteria L. plantarum. Among these crucial genes, we confirmed E. coli pdxH, and the downstream metabolite pyridoxal 5-P (PLP, Vitamin B6) as important nutritional factors for C. elegans postembryonic development. Transcriptome results suggest that bacterial pdxH affects host development by coordinating host metabolic processes and PLP binding. Additionally, the developmental arrest induced by the L. plantarum diet in worm does not depend on the activation of FoxO/DAF-16. Altogether, these results highlight the role of microbial metabolite PLP as a crucial cofactor to restore postembryonic development in C. elegans.


Assuntos
Proteínas de Caenorhabditis elegans , Caenorhabditis elegans , Animais , Caenorhabditis elegans/genética , Vitamina B 6 , Escherichia coli/metabolismo , Proteínas de Caenorhabditis elegans/metabolismo , Desenvolvimento Embrionário
8.
Case Rep Dent ; 2024: 9968705, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38633279

RESUMO

Mucogingival surgery is a procedure for the treatment of gingival recession, which is a shift of marginal gingival tissue to the cementoenamel junction (CEJ), exposing the surface of the root teeth. One treatment for gingival recession is the Langer and Langer bilaminar technique, which involves the use of the fascia lata (FL) membrane. This membrane is harvested from the aponeurosis of the external muscles. The purpose of this case report was to present the clinical results of a 2-year follow-up using the Langer and Langer bilaminar technique modified with FL in a patient with gingival recession. Recessions are a shift of marginal gingival tissue to the CEJ, which exposes the surface of the root teeth. At the 2-year follow-up, the patient presented with a gingival recession in tooth 41, which resulted in complete root coverage, reaching 83.3%; the amount of keratinized tissue increased to 3 mm in each tooth, changing the gingival biotype from thin to thick and scalloped. This case report supports the use of FL as a successful alternative treatment.

9.
Sci Rep ; 13(1): 16796, 2023 10 05.
Artigo em Inglês | MEDLINE | ID: mdl-37798310

RESUMO

Emerging evidences suggest that immune receptors participate in diverse microglial and macrophage functions by regulating their immunometabolism, inflammatory phenotype and phagocytosis. CD300f, a TREM2-like lipid sensing immune receptor, that integrates activating and inhibitory cell-signalling pathways, modulates inflammation, efferocytosis and microglial metabolic fitness. In particular, CD300f overexpression was described to be neuroprotective after an acute brain injury, suggesting a role for this immune receptor in neurotrophic interactions. Thus, we hypothesised that CD300f modulates neuronal survival through neuron-microglial interactions. In order to study its biological function, we used in vitro and in vivo approaches, CD300f-/- animals and rCD300f-Fc, a fusion protein that interrupts the endogen interaction between CD300f receptor-ligands. In hippocampal cocultures containing neurons and mixed glia, we observed that rCD300f-Fc, but not control IgGs induced neuronal death. In accordance, in vivo studies performed by injecting rCD300f-Fc or control IgGs into rat or WT or CD300 KO mice neocortex, showed an increased lesioned area after a penetrating brain injury. Interestingly, this neuronal death was dependent on glia, and the neurotoxic mechanism did not involve the increase of proinflammatory cytokines, the participation of NMDA receptors or ATP release. However, exogenous addition of glial cell line-derived neurotrophic factor (GDNF) prevented this process. Taken together, our results suggest that CD300f modulates neuronal survival in vitro and after a penetrating brain injury in vivo and that CD300f inhibition alters microglial phenotype generating a neurotoxic microenvironment.


Assuntos
Traumatismos Cranianos Penetrantes , Microglia , Ratos , Camundongos , Animais , Microglia/metabolismo , Traumatismos Cranianos Penetrantes/metabolismo , Neurônios , Inflamação/metabolismo , Macrófagos
10.
Plants (Basel) ; 12(12)2023 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-37375955

RESUMO

BACKGROUND: Oral cancer has a high prevalence worldwide, and this disease is caused by genetic, immunological, and environmental factors. The main risk factors associated with oral cancer are smoking and alcohol. RESULTS: There are various strategies to reduce risk factors, including prevention programs as well as the consumption of an adequate diet that includes phytochemical compounds derived from cranberries (Vaccinium macrocarpon A.) and blueberries (Vaccinium corymbosum L.); these compounds exhibit antitumor properties. RESULTS: The main outcome of this review is as follows: the properties of phytochemicals derived from cranberries were evaluated for protection against risk factors associated with oral cancer. CONCLUSIONS: The secondary metabolites of cranberries promote biological effects that provide protection against smoking and alcoholism. An alternative for the prevention of oral cancer can be the consumption of these cranberries and blueberries.

11.
Cell Rep ; 42(10): 113269, 2023 10 31.
Artigo em Inglês | MEDLINE | ID: mdl-37864797

RESUMO

Emerging evidence suggests that immune receptors may participate in many aging-related processes such as energy metabolism, inflammation, and cognitive decline. CD300f, a TREM2-like lipid-sensing immune receptor, is an exceptional receptor as it integrates activating and inhibitory cell-signaling pathways that modulate inflammation, efferocytosis, and microglial metabolic fitness. We hypothesize that CD300f can regulate systemic aging-related processes and ultimately healthy lifespan. We closely followed several cohorts of two strains of CD300f-/- and WT mice of both sexes for 30 months and observed an important reduction in lifespan and healthspan in knockout mice. This was associated with systemic inflammaging, increased cognitive decline, reduced brain glucose uptake observed by 18FDG PET scans, enrichment in microglial aging/neurodegeneration phenotypes, proteostasis alterations, senescence, increased frailty, and sex-dependent systemic metabolic changes. Moreover, the absence of CD300f altered macrophage immunometabolic phenotype. Taken together, we provide strong evidence suggesting that myeloid cell CD300f immune receptor contributes to healthy aging.


Assuntos
Disfunção Cognitiva , Envelhecimento Saudável , Masculino , Feminino , Camundongos , Animais , Macrófagos/metabolismo , Inflamação/metabolismo , Microglia/metabolismo , Camundongos Knockout , Disfunção Cognitiva/metabolismo
12.
ACS Appl Bio Mater ; 5(12): 5497-5512, 2022 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-36395471

RESUMO

Food products contain various active ingredients, such as flavors, nutrients, unsaturated fatty acids, color, probiotics, etc., that require protection during food processing and storage to preserve their quality and shelf life. This review provides an overview of standard microencapsulation technologies, processes, materials, industrial examples, reasons for market success, a summary of recent applications, and the challenges in the food industry, categorized by active food ingredients: flavors, polyunsaturated fatty acids, probiotics, antioxidants, colors, vitamins, and others. We also provide a comprehensive analysis of the advantages and disadvantages of the most common microencapsulation technologies in the food industry such as spray drying, coacervation, extrusion, and spray cooling. This review ends with future perspectives on microencapsulation for food applications.


Assuntos
Manipulação de Alimentos , Ingredientes de Alimentos , Vitaminas , Antioxidantes , Indústria Alimentícia
13.
PLoS One ; 17(9): e0261803, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36067168

RESUMO

Cells adapt their metabolism to physiological stimuli, and metabolic heterogeneity exists between cell types, within tissues, and subcellular compartments. The liver plays an essential role in maintaining whole-body metabolic homeostasis and is structurally defined by metabolic zones. These zones are well-understood on the transcriptomic level, but have not been comprehensively characterized on the metabolomic level. Mass spectrometry imaging (MSI) can be used to map hundreds of metabolites directly from a tissue section, offering an important advance to investigate metabolic heterogeneity in tissues compared to extraction-based metabolomics methods that analyze tissue metabolite profiles in bulk. We established a workflow for the preparation of tissue specimens for matrix-assisted laser desorption/ionization (MALDI) MSI that can be implemented to achieve broad coverage of central carbon, nucleotide, and lipid metabolism pathways. Herein, we used this approach to visualize the effect of nutrient stress and excess on liver metabolism. Our data revealed a highly organized metabolic tissue compartmentalization in livers, which becomes disrupted under high fat diet. Fasting caused changes in the abundance of several metabolites, including increased levels of fatty acids and TCA intermediates while fatty livers had higher levels of purine and pentose phosphate-related metabolites, which generate reducing equivalents to counteract oxidative stress. This spatially conserved approach allowed the visualization of liver metabolic compartmentalization at 30 µm pixel resolution and can be applied more broadly to yield new insights into metabolic heterogeneity in vivo.


Assuntos
Dieta Hiperlipídica , Jejum , Fígado , Metabolômica/métodos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos
14.
PeerJ ; 9: e11373, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34040892

RESUMO

Copper (Cu) is important for plant growth, but high concentrations can lead to detrimental effects such as primary root length inhibition, vegetative tissue chlorosis, and even plant death. The interaction between plant-soil microbiota and roots can potentially affect metal mobility and availability, and, therefore, overall plant metal concentration. Cupriavidus metallidurans CH34 is a multi metal-resistant bacterial model that alters metal mobility and bioavailability through ion pumping, metal complexation, and reduction processes. The interactions between strain CH34 and plants may affect the growth, metal uptake, and translocation of Arabidopsis thaliana plants that are exposed to or not exposed to Cu. In this study, we looked also at the specific gene expression changes in C. metallidurans when co-cultured with Cu-exposed A. thaliana. We found that A. thaliana's rosette area, primary and secondary root growth, and dry weight were affected by strain CH34, and that beneficial or detrimental effects depended on Cu concentration. An increase in some plant growth parameters was observed at copper concentrations lower than 50 µM and significant detrimental effects were found at concentrations higher than 50 µM Cu. We also observed up to a 90% increase and 60% decrease in metal accumulation and mobilization in inoculated A. thaliana. In turn, copper-stressed A. thaliana altered C. metallidurans colonization, and cop genes that encoded copper resistance in strain CH34 were induced by the combination of A. thaliana and Cu. These results reveal the complexity of the plant-bacteria-metal triad and will contribute to our understanding of their applications in plant growth promotion, protection, and phytoremediation strategies.

15.
PLoS One ; 16(3): e0249215, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33765072

RESUMO

The circadian system produces ~24-hr oscillations in behavioral and physiological processes to ensure that they occur at optimal times of day and in the correct temporal order. At its core, the circadian system is composed of dedicated central clock neurons that keep time through a cell-autonomous molecular clock. To produce rhythmic behaviors, time-of-day information generated by clock neurons must be transmitted across output pathways to regulate the downstream neuronal populations that control the relevant behaviors. An understanding of the manner through which the circadian system enacts behavioral rhythms therefore requires the identification of the cells and molecules that make up the output pathways. To that end, we recently characterized the Drosophila pars intercerebralis (PI) as a major circadian output center that lies downstream of central clock neurons in a circuit controlling rest:activity rhythms. We have conducted single-cell RNA sequencing (scRNAseq) to identify potential circadian output genes expressed by PI cells, and used cell-specific RNA interference (RNAi) to knock down expression of ~40 of these candidate genes selectively within subsets of PI cells. We demonstrate that knockdown of the slowpoke (slo) potassium channel in PI cells reliably decreases circadian rest:activity rhythm strength. Interestingly, slo mutants have previously been shown to have aberrant rest:activity rhythms, in part due to a necessary function of slo within central clock cells. However, rescue of slo in all clock cells does not fully reestablish behavioral rhythms, indicating that expression in non-clock neurons is also necessary. Our results demonstrate that slo exerts its effects in multiple components of the circadian circuit, including PI output cells in addition to clock neurons, and we hypothesize that it does so by contributing to the generation of daily neuronal activity rhythms that allow for the propagation of circadian information throughout output circuits.


Assuntos
Ritmo Circadiano/fisiologia , Proteínas de Drosophila/metabolismo , Canais de Potássio/metabolismo , Animais , Encéfalo/citologia , Encéfalo/metabolismo , Ritmo Circadiano/genética , Drosophila , Proteínas de Drosophila/antagonistas & inibidores , Proteínas de Drosophila/genética , Expressão Gênica , Neurônios/metabolismo , Canais de Potássio/genética , RNA/química , RNA/genética , RNA/metabolismo , Interferência de RNA , RNA Interferente Pequeno/metabolismo , Receptores Nicotínicos/genética , Receptores Nicotínicos/metabolismo , Análise de Sequência de RNA , Análise de Célula Única
16.
Microb Biotechnol ; 14(5): 1944-1960, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34156761

RESUMO

The self-sufficient cytochrome P450 RhF and its homologues belonging to the CYP116B subfamily have attracted considerable attention due to the potential for biotechnological applications based in their ability to catalyse an array of challenging oxidative reactions without requiring additional protein partners. In this work, we showed for the first time that a CYP116B self-sufficient cytochrome P450 encoded by the ohpA gene harboured by Cupriavidus pinatubonensis JMP134, a ß-proteobacterium model for biodegradative pathways, catalyses the conversion of 2-hydroxyphenylacetic acid (2-HPA) into homogentisate. Mutational analysis and HPLC metabolite detection in strain JMP134 showed that 2-HPA is degraded through the well-known homogentisate pathway requiring a 2-HPA 5-hydroxylase activity provided by OhpA, which was additionally supported by heterologous expression and enzyme assays. The ohpA gene belongs to an operon including also ohpT, coding for a substrate-binding subunit of a putative transporter, whose expression is driven by an inducible promoter responsive to 2-HPA in presence of a predicted OhpR transcriptional regulator. OhpA homologues can be found in several genera belonging to Actinobacteria and α-, ß- and γ-proteobacteria lineages indicating a widespread distribution of 2-HPA catabolism via homogentisate route. These results provide first time evidence for the natural function of members of the CYP116B self-sufficient oxygenases and represent a significant input to support novel kinetic and structural studies to develop cytochrome P450-based biocatalytic processes.


Assuntos
Cupriavidus , Sistema Enzimático do Citocromo P-450 , Cupriavidus/genética , Sistema Enzimático do Citocromo P-450/genética , Fenilacetatos
17.
Front Genet ; 12: 701373, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34413879

RESUMO

Systemic Lupus Erythematosus (SLE) is an autoimmune inflammatory disorder for which Major Histocompatibility Complex (MHC) genes are well identified as risk factors. SLE patients present different clinical phenotypes, which are partly explained by admixture patterns variation among Mexicans. Population genetic has insight into the high genetic variability of Mexicans, mainly described through HLA gene studies with anthropological and biomedical importance. A prospective, case-control study was performed. In this study, we recruited 146 SLE patients, and 234 healthy individuals were included as a control group; both groups were admixed Mexicans from Mexico City. The HLA typing methods were based on Next Generation Sequencing and Sequence-Based Typing (SBT). The data analysis was performed with population genetic programs and statistical packages. The admixture estimations based on HLA-B and -DRB1 revealed that SLE patients have a higher Southwestern European ancestry proportion (48 ± 8%) than healthy individuals (30 ± 7%). In contrast, Mexican Native American components are diminished in SLE patients (44 ± 1%) and augmented in Healthy individuals (63 ± 4%). HLA alleles and haplotypes' frequency analysis found variants previously described in SLE patients from Mexico City. Moreover, a conserved extended haplotype that confers risk to develop SLE was found, the HLA-A∗29:02∼C∗16:01∼B∗44:03∼DRB1∗07:01∼DQB1∗02:02, pC = 0.02, OR = 1.41. Consistent with the admixture estimations, the origin of all risk alleles and haplotypes found in this study are European, while the protection alleles are Mexican Native American. The analysis of genetic distances supported that the SLE patient group is closer to the Southwestern European parental populace and farthest from Mexican Native Americans than healthy individuals. Heterogeneity of genetic admixture determines SLE susceptibility and protection in Mexicans. HLA sequencing is helpful to determine susceptibility alleles and haplotypes restricted to some populations.

18.
Integr Zool ; 16(5): 646-658, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33411951

RESUMO

Ectophylla alba is a tent-making bat that roosts in mixed-sex clusters comprising adults and offspring. Our goal was to determine the genetic identity of individuals belonging to different roosting groups. We tested the hypothesis of kin selection as a major force structuring group composition. We used 9 microsatellites designed for E. alba to determine the genetic identity and probability of parentage of individuals. We analyzed parentage and kinship using the software ML-Relate, GenAIEx, and Cervus. The obtained relationship probabilities (0.5) revealed a clear maternal relationship between female adults and offspring with allele compatibility, and at least 5 relationships between male adults and pups. We found a low degree of relatedness within roosting groups. Between roosting groups at different sites, the mean probability of a half-sibling relationship ranged from 0.214 to 0.244 and, for full-sibling relationship, from 0.383 to 0.553. Genetically, adult individuals were poorly related within clusters, and kinship as an evolutionary force could not explain group membership.


Assuntos
Comportamento Animal , Quirópteros/genética , Paternidade , Animais , Evolução Biológica , Quirópteros/fisiologia , Costa Rica , Feminino , Masculino , Comportamento Social
19.
Brain Behav Immun Health ; 11: 100191, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34589728

RESUMO

Generalized Anxiety Disorder (GAD) presents a high prevalence in the population, leading to distress and disability. Immune system alterations have been associated with anxiety-related behaviors in rodents and GAD patients. CD300f immune receptors are highly expressed in microglia and participate not only in the modulation of immune responses but also in pruning and reshaping synapses. It was recently demonstrated that CD300f might be influential in the pathogenesis of depression in a sex-dependent manner. Here, we evaluated the role of CD300f immune receptor in anxiety, using CD300f knockout mice (CD300f-/-) and patients with GAD. We observed that male CD300f-/- mice had numerous behavioral changes associated with a low-anxiety phenotype, including increased open field central locomotion and rearing behaviors, more exploration in the open arms of the elevated plus-maze test, and decreased latency to eat in the novelty suppressed feeding test. In a cross-sectional population-based study, including 1111 subjects, we evaluated a common single-nucleotide polymorphism rs2034310 (C/T) in the cytoplasmatic tail of CD300f gene in individuals with GAD. Notably, we observed that the T allele of the rs2034310 polymorphism conferred protection against GAD in men, even after adjusting for confounding variables. Overall, our data demonstrate that CD300f immune receptors are involved in the modulation of pathological anxiety behaviors in a sex-dependent manner. The biological basis of these sex differences is still poorly understood, but it may provide significant clues regarding the neuropathophysiological mechanisms of GAD and can pave the way for future specific pharmacological interventions.

20.
Nutr Hosp ; 37(5): 999-1006, 2020 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-32960632

RESUMO

INTRODUCTION: The aim of this study was to determine the acceptability of low glycaemic index (GI) preparations, equivalent to the traditional high GI ones in Chile, elaborated with minimal changes in the ingredients and culinary techniques that significantly diminish the GI and maintain acceptability level. Twelve high-GI traditional lunches and their low GI counterparts were prepared. For 12 days, 20 apparently healthy women randomly tasted 2 paired preparations per day (low and high GI). The attributes of appearance, taste, smell, and texture of salads, main course, and desserts, as well as those of the full lunch, were evaluated using a hedonic scale of 7 and 9 points. Lunches with a high GI (90 ± 20.5 %) were modified by changing types of food ingredients, and/or by using culinary techniques to provide a low-GI counterpart with 47 ± 5.9 % GI (p < 0.001). All the preparations were classified as optimal, exceeding the established cut-off point. The "Legume with CHO" lunch had a higher acceptability level in its low GI version (p = 0.006), while the "Chicken with corn" lunch had it in its high GI version (p = 0.004). There was a preference for low-GI salad appearance (p = 0.003) and dessert flavour (p = 0.024), while high-GI main dishes were better praised for flavour (p = 0.034) and texture (p = 0.012). It is therefore possible to prepare low-GI menus equivalent to their traditional counterparts that are received as generally acceptable, with components and sensory attributes equal to, or even better than typical Chilean cuisine dishes.


INTRODUCCIÓN: El objetivo de este estudio fue determinar la aceptabilidad de preparaciones de bajo índice glicémico (IG) diseñadas a partir de aquellas de alto IG de consumo habitual en Chile, elaboradas con mínimos cambios en sus ingredientes y basándose en técnicas culinarias que diminuyen el IG. Doce preparaciones tradicionales de alto IG se eligieron para preparar sus homólogos de bajo IG. Durante 12 días, 20 mujeres en buen estado de salud probaron, de forma aleatoria, 2 preparaciones equivalentes por día (de bajo y alto IG), y evaluaron la aceptabilidad promedio de las ensaladas, los platos principales y los postres, así como el almuerzo completo, a través de una escala hedónica de 7 puntos y una de 9 puntos para evaluar aceptabilidad de los atributos: apariencia, sabor, olor y textura. Los almuerzos de alto IG (90 ± 20,5 %) se modificaron cambiando los tipos de ingredientes y las técnicas culinarias, formulando preparaciones homólogas de bajo IG (47 ± 5,9 %). Todas las nuevas preparaciones se calificaron de óptimas; las legumbres con cereales obtuvieron la más alta aceptabilidad en su versión de bajo IG (p = 0,006), mientras que el plato principal "Pollo con choclo" lo hizo en su versión de alto IG (p = 0,004). Hubo mayores preferencias por la apariencia de las ensaladas (p = 0,003) y el sabor de los postres de bajo IG (0,024), mientras que los platos principales fueron mejor valorados en cuanto a sabor (p = 0,034) y textura (0,012) en su versión de alto IG. Es posible preparar menus de bajo IG equivalentes a las preparaciones tradicionales de alto IG, con componentes y atributos sensoriales similares, o incluso mejores, que los de las preparaciones tradicionales chilenas originales.


Assuntos
Índice Glicêmico , Adulto , Idoso , Glicemia , Índice de Massa Corporal , Chile , Culinária , Carboidratos da Dieta , Feminino , Preferências Alimentares , Humanos , Almoço , Pessoa de Meia-Idade , Olfato , Paladar
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