Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 39
Filtrar
1.
Clin Transl Oncol ; 24(3): 503-516, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34510318

RESUMO

PURPOSE: Lysophosphatidic acid (LPA) is a bioactive molecule which participates in many physical and pathological processes. Although LPA receptor 6 (LPAR6), the last identified LPA receptor, has been reported to have diverse effects in multiple cancers, including breast cancer, its effects and functioning mechanisms are not fully known. METHODS: Multiple public databases were used to investigate the mRNA expression of LPAR6, its prognostic value, and potential mechanisms in breast cancer. Western blotting was performed to validate the differential expression of LPAR6 in breast cancer tissues and their adjacent tissues. Furthermore, in vitro experiments were used to explore the effects of LPAR6 on breast cancer. Additionally, TargetScan and miRWalk were used to identify potential upstream regulating miRNAs and validated the relationship between miR-27a-3p and LPAR6 via real-time polymerase chain reaction and an in vitro rescue assay. RESULTS: LPAR6 was significantly downregulated in breast cancer at transcriptional and translational levels. Decreased LPAR6 expression in breast cancer is significantly correlated with poor overall survival, disease-free survival, and distal metastasis-free survival, particularly for hormone receptor-positive patients, regardless of lymph node metastatic status. In vitro gain and loss-of-function assays indicated that LPAR6 attenuated breast cancer cell proliferation. The analyses of TCGA and METABRIC datasets revealed that LPAR6 may regulate the cell cycle signal pathway. Furthermore, the expression of LPAR6 could be positively regulated by miR-27a-3p. The knockdown of miR-27a-3p increased cell proliferation, and ectopic expression of LPAR6 could partly rescue this phenotype. CONCLUSION: LPAR6 acts as a tumor suppressor in breast cancer and is positively regulated by miR-27a-3p.


Assuntos
Neoplasias da Mama/patologia , Proliferação de Células , MicroRNAs/fisiologia , Receptores de Ácidos Lisofosfatídicos/fisiologia , Neoplasias da Mama/genética , Proliferação de Células/genética , Feminino , Humanos , Células Tumorais Cultivadas
2.
Clin Transl Oncol ; 24(2): 379-387, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34453698

RESUMO

OBJECTIVE: To evaluate the genomic and immune characteristics of non-small-cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) exon 20 insertion (ex20ins) mutations from a retrospective dataset with molecular spectrum, tumor mutational burden (TMB), and programmed death-ligand 1 (PD-L1) expression, as well as to evaluate the efficacy of immune checkpoint inhibitors (ICIs). METHODS: A total of 283 patients with EGFR ex20ins mutations who were diagnosed with NSCLC at our hospital from August 2013 to September 2020 were enrolled in this single-center retrospective study. RESULTS: Among the 283 patients with EGFR ex20ins mutations, 182 patients received next-generation sequencing (NGS) test, and 51 different subtypes of insertion variants were recorded. The most common mutations were A767_V769dup (21.4%), S768_D770dup (19.2%) and A763_Y764insFQEA (7.1%). The most common co-occurring mutations were EGFR amplification (37.9%), TP53 mutation (35.0%) and PIK3CA mutation (8.7%). PD-L1 status was available for 141 patients, and 75.9% (107/141) of these samples showed negative PD-L1 expression. In the 36 cases with TMB tested by NGS, the median TMB was 4.6 mutations/Mb. Then 12 patients received ICIs monotherapy or combination therapy. No severe adverse events were observed. CONCLUSION: Low PD-L1 expression and TMB were observed in NSCLC patients harboring EGFR ex20ins mutations. Further investigations are needed to confirm the therapeutic sensitivity of ICIs in this subgroup of EGFR mutations.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma Pulmonar de Células não Pequenas/genética , Receptores ErbB/genética , Éxons/genética , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Mutagênese Insercional , Adulto , Idoso , Idoso de 80 Anos ou mais , Antígeno B7-H1/genética , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Feminino , Regulação da Expressão Gênica , Humanos , Inibidores de Checkpoint Imunológico/uso terapêutico , Neoplasias Pulmonares/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
3.
Rev. bras. ciênc. avic ; 24(4): eRBCA-2021-1572, 2022. tab
Artigo em Inglês | VETINDEX | ID: biblio-1415614

RESUMO

This study was conducted to investigate effects of vitamin A (VA) and vitamin K3 (VK3) on immune function and intestinal antioxidant capacity of aged laying hens. In a 3 × 3 factorial arrangement, the diets of 1080 Roman Pink laying hens (87 weeks old) was formulated with deficient, adequate and excess VA and VK3, including 0, 7000 and 14000 IU/kg VA and 0, 2.0 and 4.0 mg/kg VK3 for 8 weeks. Interactive effects between VA and VK3 were observed that VA and VK3 decreased the splenetic mRNA expression of inducible nitric oxide synthase (iNOS) and tumour necrosis factor α (TNF-α), but increased the plasma immunoglobulin G (IgG) content and jejunal mRNA expression of nuclear factor-like 2 (Nrf2). Hens fed adequate or excess VA had higher spleen index, mRNA expression of interleukin-10 (IL-10) in spleen, sIgA content, catalase (CAT), glutathione peroxidase and total dismutase (T-SOD) activity, and mRNA expression of polymeric immunoglobulin receptor (pIgR) in jejunum and lower mRNA expression of IL-1ß in jejunum and iNOS, TNF-α in spleen. Furthermore, adequate or excess VK3 significantly increased plasma IgG content, the CAT, T-SOD and total antioxidant capacity activities, up-regulated the mRNA expression of pIgR, Nrf2, SOD1 and CAT in jejunum and down-regulated the mRNA expression of iNOS and TNF-α in spleen.(AU)


Assuntos
Vitamina A/efeitos adversos , Galinhas/imunologia , Vitamina K 3/efeitos adversos , Sistema Imunitário , Antioxidantes/análise
4.
Clin Transl Oncol ; 23(2): 246-256, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32519176

RESUMO

PURPOSE: Clinically, hypoxia is associated with increased distant metastasis and poor survival in gastric cancer (GC). In this study, we set out from the cellular interaction to further explain the molecular mechanism of invasion in GC cells under hypoxic conditions. METHODS: Gastric cancer cells were cultured under 1% O2 (hypoxia-cultured gastric cancer cells, HGC) and 20% O2 condition (normoxic-cultured gastric cancer cells, NGC). NGC was co-cultured with HGC-medium. Scrape and Transwell were used to evaluate invasion and migration. Exosomes from GC were extracted by ultracentrifugation. Electron microscopy images, western-blot used to analyze the size distributions and the number of exosomes. RESULTS: HGC-medium induced NGC dissociated. Long non-coding RNA (lncRNA) prostate cancer gene expression marker 1 (PCGEM1) was specifically expressed in HGC exosomes. HGC-derived PCGEM1-riched exosomes could promote the invasion and migration of NGC. On the mechanism, PCGEM1 maintained stability and reduced the degradation of SNAI1, which could induce the epithelial-mesenchymal transition of GC. CONCLUSION: LncRNA PCGEM1 was overexpressed in GC cells. And part of the PCGEM1 can be encapsulated into exosomes. These exosomes promoted invasion and migration of other GC cells. We considered PCGEM1 might act as a "scaffold" combined with SNAI1 and prompt the invasion and migration of GC.


Assuntos
Exossomos/metabolismo , RNA Longo não Codificante/metabolismo , Fatores de Transcrição da Família Snail/metabolismo , Neoplasias Gástricas/metabolismo , Neoplasias Gástricas/patologia , Hipóxia Tumoral , Comunicação Celular , Movimento Celular/genética , Técnicas de Cocultura/métodos , Meios de Cultura/farmacologia , Transição Epitelial-Mesenquimal/fisiologia , Exossomos/ultraestrutura , Humanos , Invasividade Neoplásica , Metástase Neoplásica , RNA Mensageiro/metabolismo , Fatores de Transcrição da Família Snail/genética , Microambiente Tumoral , Regulação para Cima
5.
Clin Transl Oncol ; 21(11): 1499-1509, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30903518

RESUMO

PURPOSE: The purpose of this study was to explore the differences between stage T2N0M0 and stage T1N1M0 gastric cancer (GC) and to identify the necessity of adjuvant treatment (AT) for these stages. METHODS: Between years 2004 and 2015, 1971 stage IB GC patients who underwent radical surgery were recruited using the Surveillance, Epidemiology and End Results database. We conducted univariate/multivariate analyses, the propensity score matching and evaluated gastric cancer-specific survival (GCSS) and overall survival (OS) with the log-rank test. RESULTS: T1N1M0 had a significantly worse survival than T2N0M0 in both GCSS and OS before and after the propensity score matching. Examined lymph nodes (ELN) ≤ 15 and T1N1M0 were independent risk factors for worse GCSS and OS in stage IB GC. The absence of adjuvant chemotherapy (CT) was an independent risk factor for worse GCSS and OS in T1N1M0 but not in T2N0M0. AT demonstrated similar GCSS and OS with surgery alone (SA) for T2N0M0 but better survival for T1N1M0. Compared to CT and adjuvant chemoradiotherapy (CRT) group, SA demonstrated significantly worse GCSS and OS for T1N1M0. There was no significant difference between CT and CRT in both T2N0M0 and T1N1M0 stages. T2N0M0 had a better survival than T1N1M0 in ELN ≤ 15 subgroup. However, similar survival was demonstrated in ELN > 15 subgroup. CONCLUSIONS: T2N0M0 GC has a better survival rate than T1N1M0 GC when ELN are ≤ 15. Moreover, T2N0M0 GC may not benefit from AT. T1N1M0 GC requires CT but not adjuvant radiotherapy.


Assuntos
Linfonodos/patologia , Estadiamento de Neoplasias , Neoplasias Gástricas/patologia , Neoplasias Gástricas/terapia , Adolescente , Adulto , Idoso , Análise de Variância , Quimiorradioterapia Adjuvante/mortalidade , Quimioterapia Adjuvante/mortalidade , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Linfonodos/cirurgia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias/mortalidade , Pontuação de Propensão , Programa de SEER , Fatores Socioeconômicos , Neoplasias Gástricas/mortalidade , Taxa de Sobrevida , Adulto Jovem
6.
Clin Transl Oncol ; 21(9): 1142-1151, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30690667

RESUMO

PURPOSE: Hypoxia is an indispensable factor in the progression of metastasis. Hypoxia inducible factor-1α (HIF-1α), the core element in generating the hypoxia response, induces invasion and metastasis by promoting epithelial-mesenchymal transition (EMT). This study explored the underlying mechanism of hypoxia associated with the invasion and metastasis of gastric cancer (GC). METHODS: Six methods were employed to assess the function of the long noncoding RNA (lncRNA) prostate cancer gene expression marker 1 (PCGEM1) including gene silencing, RT-PCR, the separation of nuclear and cytoplasmic fractions, scrape motility assay, transwell migration assay, and Western-blot. RESULTS: LncRNA PCGEM1 was overexpressed in GC cells and tissues, and was induced by hypoxia in GC cells. Additional experiments confirmed that the knockdown of PCGEM1 significantly repressed the invasion and metastasis of GC cells. SNAI1, a key transcription factor of EMT, was regulated by PCGEM1. Overexpression of SNAI1 rescued the inhibition of PCGEM1-knockdown during the invasion and metastasis of GC cells. In addition, PCGEM1 and SNAI1 jointly affected the biomarkers of EMT. CONCLUSION: Our findings indicated that PCGEM1 is a hypoxia-responsive lncRNA, and contributes to the invasion and metastasis of GC. The potential mechanism is attributed to the regulation of EMT by PCGEM1 and its influence on the expression of SNAI1.


Assuntos
Movimento Celular , Proliferação de Células , Regulação Neoplásica da Expressão Gênica , Hipóxia/fisiopatologia , RNA Longo não Codificante/genética , Fatores de Transcrição da Família Snail/metabolismo , Neoplasias Gástricas/patologia , Apoptose , Transição Epitelial-Mesenquimal , Humanos , Invasividade Neoplásica , Fatores de Transcrição da Família Snail/genética , Neoplasias Gástricas/genética , Neoplasias Gástricas/metabolismo , Células Tumorais Cultivadas
7.
Rev. bras. ciênc. avic ; 20(4): 707-716, Oct.-Dec. 2018. tab
Artigo em Inglês | VETINDEX | ID: biblio-1490567

RESUMO

The objectives of this study were to investigate the effects of tributyrin (TB) and coated sodium butyrate (CSB) on intestinal morphology, disaccharidase activity and intramuscular fat of broilers challenged with lipopolysaccharide (LPS). A total of 160 1-day-old healthy Cobb broilers were randomly allocated into four groups: (1) control; (2) LPS, in which broilers were fed a basal diet and intraperitoneally injected with 500 g/kg LPS on days 38, 40 and 42; (3) TB, in which LPS-challenged broilers were fed basal diet supplemented with 500 mg/kg TB; and (4) CSB, in which LPS-challenged broilers were fed basal diet supplemented with 877 mg/kg CSB. Addition of TB and CSB inhibited (p<0.05) the decrease in villus height in the duodenum and ileum of LPS-challenged broilers, respectively. Both TB and CSB increased (p<0.05) activity of maltase in the small intestine, and TB increased (p<0.05) activity of isomaltase in the ileum. Additionally, dietary addition of TB and CSB decreased (p<0.05) the content of intramuscular fat. In conclusion, dietary supplementation of TB was more effective than CSB in improving intestinal morphology and disaccharidase activity of LPS-challenged broilers, and they both reduced intramuscular fat in the breast and legs.


Assuntos
Animais , Recém-Nascido , Butiratos/administração & dosagem , Butiratos/efeitos adversos , Dissacaridases , Galinhas/fisiologia , Intestinos/anatomia & histologia , Lipopolissacarídeos , Alimentos Fortificados/efeitos adversos
8.
R. bras. Ci. avíc. ; 20(4): 707-716, Oct.-Dec. 2018. tab
Artigo em Inglês | VETINDEX | ID: vti-19846

RESUMO

The objectives of this study were to investigate the effects of tributyrin (TB) and coated sodium butyrate (CSB) on intestinal morphology, disaccharidase activity and intramuscular fat of broilers challenged with lipopolysaccharide (LPS). A total of 160 1-day-old healthy Cobb broilers were randomly allocated into four groups: (1) control; (2) LPS, in which broilers were fed a basal diet and intraperitoneally injected with 500 g/kg LPS on days 38, 40 and 42; (3) TB, in which LPS-challenged broilers were fed basal diet supplemented with 500 mg/kg TB; and (4) CSB, in which LPS-challenged broilers were fed basal diet supplemented with 877 mg/kg CSB. Addition of TB and CSB inhibited (p<0.05) the decrease in villus height in the duodenum and ileum of LPS-challenged broilers, respectively. Both TB and CSB increased (p<0.05) activity of maltase in the small intestine, and TB increased (p<0.05) activity of isomaltase in the ileum. Additionally, dietary addition of TB and CSB decreased (p<0.05) the content of intramuscular fat. In conclusion, dietary supplementation of TB was more effective than CSB in improving intestinal morphology and disaccharidase activity of LPS-challenged broilers, and they both reduced intramuscular fat in the breast and legs.(AU)


Assuntos
Animais , Recém-Nascido , Galinhas/fisiologia , Butiratos/administração & dosagem , Butiratos/efeitos adversos , Intestinos/anatomia & histologia , Lipopolissacarídeos , Dissacaridases , Alimentos Fortificados/efeitos adversos
9.
Clin Transl Oncol ; 20(10): 1329-1336, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29623584

RESUMO

OBJECTIVES: This study was to evaluate the feasibility of simultaneous integrated boost on tumor hypoxia area by studying the dosimetric change of hypoxia imaging guidance on intensity-modulated radiation therapy for non-small cell lung cancer (NSCLC). METHODS: Five NSCLC patients with large hypoxic volume participated in this study. FDG PET/CT images were fused with CT localization images to delineate gross tumor volume. FMISO PET/CT images were fused with CT localization images to delineate hypoxic biological target volume (BTV) (tissue maximum ratio ≥ 1.3) by threshold. BTV was irradiated with 72, 78 and 84 Gy, respectively, 30 times. The dosimetry differences were compared in target volume and organ at risk between simultaneous integrated boost plans and conventional radiotherapy plans. RESULTS: Dosages on BTV of NSCLC hypoxic area were increased to 72, 78 and 84 Gy, respectively, by simultaneous integrated boost intensity-modulated radiation therapy. There was no obvious difference in dosage distributions on original target volume compared with those in conventional radiotherapy. Dosages on main organ at risk in chest met the dosimetric constraint, and there was no significant difference compared with those in conventional radiotherapy. CONCLUSION: It is feasible in dosiology that the dosages in NSCLC hypoxic area were added to 72, 78 and 84 Gy by simultaneous integrated boost with the guidance of 18F-FMISO PET/CT.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/diagnóstico por imagem , Hipóxia/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico por imagem , Imagem Multimodal/métodos , Planejamento da Radioterapia Assistida por Computador/métodos , Radioterapia de Intensidade Modulada/métodos , Idoso , Carcinoma Pulmonar de Células não Pequenas/radioterapia , Humanos , Neoplasias Pulmonares/radioterapia , Masculino , Pessoa de Meia-Idade , Misonidazol/análogos & derivados , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Dosagem Radioterapêutica
10.
Genet Mol Res ; 15(3)2016 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-27706678

RESUMO

The aim of this study was to investigate the expression of T-cell immunoglobulin mucin domain molecule-3 (Tim-3) in osteosarcoma tissues, and analyze its effect on cell proliferation and metastasis in an osteosarcoma cell line. Tim-3 mRNA and protein expression in osteosarcoma tissue was detected by reverse transcriptase-polymerase chain reaction and immunohistochemistry, respectively. Additionally, the cell viability, apoptosis rate, and invasive ability of the osteosarcoma cell line MG-63 were tested using the methyl thiazolyl tetrazolium assay, Annexin V-propidium iodide flow cytometry, and a Transwell assay, respectively, following Tim-3 interference using small interfering RNA (siRNA). We also analyzed the expression of Snail, E-cadherin, vimentin, and nuclear factor (NF)-kB in the cells by western blot. We observed that Tim-3 mRNA and protein was significantly overexpressed in osteosarcoma tissues, compared to the adjacent normal tissue (P < 0.01). Moreover, MG-63 cells transfected with the Tim-3 siRNA presented lower cell viability, a greater number of apoptotic cells, and decreased invasive ability (P < 0.01), compared to control cells. Additionally, we observed a decrease in Snail and vimentin expression, an increase in the E-cadherin level, and an increase in NF-kB p65 phosphorylation (P < 0.01) in Tim-3 siRNA-transfected MG-63 cells. Based on these results, we concluded that Tim-3 is highly expressed in osteosarcoma tissue. Moreover, we speculated that interfering in Tim-3 expression could significantly suppress osteosarcoma cell (MG-63) proliferation and metastasis via the NF-kB/Snail signaling pathway and epithelial-mesenchymal transition.


Assuntos
Neoplasias Ósseas/genética , Transição Epitelial-Mesenquimal/genética , Regulação Neoplásica da Expressão Gênica , Receptor Celular 2 do Vírus da Hepatite A/genética , Osteossarcoma/genética , Antígenos CD , Apoptose , Neoplasias Ósseas/metabolismo , Neoplasias Ósseas/patologia , Caderinas/genética , Caderinas/metabolismo , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Sobrevivência Celular , Colágeno/química , Cultura em Câmaras de Difusão , Combinação de Medicamentos , Receptor Celular 2 do Vírus da Hepatite A/antagonistas & inibidores , Receptor Celular 2 do Vírus da Hepatite A/metabolismo , Humanos , Laminina/química , Metástase Linfática , Invasividade Neoplásica , Osteossarcoma/metabolismo , Osteossarcoma/patologia , Fosforilação , Proteoglicanas/química , RNA Interferente Pequeno/genética , RNA Interferente Pequeno/metabolismo , Transdução de Sinais , Fatores de Transcrição da Família Snail/genética , Fatores de Transcrição da Família Snail/metabolismo , Fator de Transcrição RelA/genética , Fator de Transcrição RelA/metabolismo , Vimentina/genética , Vimentina/metabolismo
11.
Genet Mol Res ; 15(2)2016 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-27173266

RESUMO

The aim of this study was to investigate the potential association between apolipoprotein A1 (APOA1) gene rs670, rs5069, and rs2070665 polymorphisms and dyslipidemia in the Kazakh population of Xinjiang, China. Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) was used to identify APOA1 (rs670, rs5069, and rs2070665) genotypes in 736 subjects (341 dyslipidemia patients and 395 control subjects). The frequencies of the CC genotype for rs1421085 were found to be 7.2% (obese group), 4.4% (overweight group), and 5.6% (control group). Polymorphisms of the three loci of the APOA1 gene in Kazakh subjects met Hardy-Weinberg equilibrium. The frequencies of the A allele for rs670 were found to be 14.3% (dyslipidemia group) and 12.7% (control group). The frequencies of the T allele for rs5069 and rs2070665 were: dyslipidmia group (7.2 and 30.1%, respectively) and control group (7.7 and 32.5%, respectively). Frequency distributions of the 3 types of genotypes and alleles of the three loci showed no statistically significant difference (P > 0.05). Significant differences were observed in lipoprotein (α) [Lp(α)] between patients with the rs2070665 CT + TT and CC genotypes (P < 0.05); however, none of the other relevant indicators differed significantly between the two genotypes. No significant association was identified between rs670 or rs5069 and the lipid-related metabolic indices assessed in the study. These findings indicate that the polymorphisms in the APOA1 gene (rs670, rs5069, and rs2070665) are not associated with dyslipidemia in the Kazakh population assessed in this study.


Assuntos
Apolipoproteína A-I/genética , Dislipidemias/genética , Polimorfismo de Nucleotídeo Único , Adulto , Estudos de Casos e Controles , China , Feminino , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade
12.
Genet Mol Res ; 15(1): 15016781, 2016 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-26985945

RESUMO

Target leaf spot is a sorghum leaf disease caused by Bipolaris sorghicola, a species of fungus with a global distribution. In this study, we investigated the process by which B. sorghicola invades cells of barley, onion, Arabidopsis thaliana species, and sorghum. The results showed that within 8 h of coming into contact with host cells, the hyphal ends of B. sorghicola expand and form a uniform infective penetration pegbolt-like structure; a primary infection mycelium can be formed inside host cells within 24 h after contact, which can infect closed cells after 48 h. A mycelium can grow within the gap between cells and form infective hyphae. The pathogen infection process was the same in different host cells. B. sorghicola can affect root cells through soil infection, indicating that it may also have characteristics of soil-borne pathogens.


Assuntos
Ascomicetos/fisiologia , Interações Hospedeiro-Patógeno , Raízes de Plantas/microbiologia , Arabidopsis/microbiologia , Hordeum/microbiologia , Cebolas/microbiologia , Microbiologia do Solo , Sorghum/microbiologia
13.
Clin Genet ; 89(4): 461-465, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26346709

RESUMO

Over 5% of the world's population has varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (ARNHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a ARNHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared with those of Native American, European, and African populations shows a close match with the Mayan population.

14.
Genet Mol Res ; 14(4): 15572-6, 2015 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-26634524

RESUMO

The morphology and photosynthetic enzyme activity were studied in maize phosphoenolpyruvate carboxylase transgenic rice and non-transgenic rice. The results showed that compared with non-transgenic rice, phosphoenolpyruvate carboxylase transgenic rice was taller and had a stronger stalk, wider leaves, and more exuberant root system, with increased photosynthetic enzyme activity and improved yield components. Therefore, given the superiority of this plant type and heterosis, this is a novel breeding strategy for rice for the introduction of C4 photosynthesis genes into high-yielding rice.


Assuntos
Regulação Enzimológica da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Oryza/fisiologia , Fenótipo , Fosfoenolpiruvato Carboxilase/genética , Fosfoenolpiruvato Carboxilase/metabolismo , Fotossíntese/genética , Folhas de Planta/genética , Folhas de Planta/metabolismo , Plantas Geneticamente Modificadas
15.
Genet Mol Res ; 14(4): 14151-61, 2015 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-26535732

RESUMO

MicroRNA166 (miR166) is known to have highly conserved targets that encode proteins of the class III homeodomain-leucine zipper (HD-ZIP III) family, in a broad range of plant species. To further understand the relationship between HD-ZIP III genes and miR166, four HD-ZIP III family genes (PpHB14, PpHB15, PpHB8, and PpREV) were isolated from peach (Prunus persica) tissue and characterized. Spatio-temporal expression profiles of the genes were analyzed. Genes of the peach HD-ZIP III family were predicted to encode five conserved domains. Deduced amino acid sequences and tertiary structures of the four peach HD-ZIP III genes were highly conserved, with corresponding genes in Arabidopsis thaliana. The expression level of four targets displayed the opposite trend to that of miR166 throughout fruit development, with the exception of PpHB14 from 35 to 55 days after full bloom (DAFB). This finding indicates that miR166 may negatively regulate its four targets throughout fruit development. As for leaf and phloem, the same trend in expression level was observed between four targets and miR166 from 75 to 105 DAFB. However, the opposite trend was observed for the transcript level between four targets and miR166 from 35 to 55 DAFB. miRNA166 may negatively regulate four targets in some but not all developmental stages for a given tissue. The four genes studied were observed to have, exactly or generally, the same change tendency as individual tissue development, a finding that suggests genes of the HD-ZIP III family in peach may have complementary or cooperative functions in various tissues.


Assuntos
Genes de Plantas , Proteínas de Homeodomínio/genética , Zíper de Leucina , MicroRNAs/genética , Prunus persica/genética , Regulação da Expressão Gênica de Plantas , Proteínas de Homeodomínio/biossíntese , MicroRNAs/metabolismo , Família Multigênica , Filogenia , Proteínas de Plantas/biossíntese , Proteínas de Plantas/genética , Análise de Sequência de Proteína
16.
Genet Mol Res ; 14(4): 14576-86, 2015 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-26600517

RESUMO

This study aims to explore the roles of somatic embryogenesis receptor-like kinase (SERK) in Malus hupehensis (Pingyi Tiancha). The full-length sequences of SERK1 in triploid Pingyi Tiancha (3n) and a tetraploid hybrid strain 33# (4n) were cloned, sequenced, and designated as MhSERK1 and MhdSERK1, respectively. Multiple alignments of amino acid sequences were conducted to identify similarity between MhSERK1 and MhdSERK1 and SERK sequences in other species, and a neighbor-joining phylogenetic tree was constructed to elucidate their phylogenetic relations. Expression levels of MhSERK1 and MhdSERK1 in different tissues and developmental stages were investigated using quantitative real-time PCR. The coding sequence lengths of MhSERK1 and MhdSERK1 were 1899 bp (encoding 632 amino acids) and 1881 bp (encoding 626 amino acids), respectively. Sequence analysis demonstrated that MhSERK1 and MhdSERK1 display high similarity to SERKs in other species, with a conserved intron/exon structure that is unique to members of the SERK family. Additionally, the phylogenetic tree showed that MhSERK1 and MhdSERK1 clustered with orange CitSERK (93%). Furthermore, MhSERK1 and MhdSERK1 were mainly expressed in the reproductive organs, in particular the ovary. Their expression levels were highest in young flowers and they differed among different tissues and organs. Our results suggest that MhSERK1 and MhdSERK1 are related to plant reproduction, and that MhSERK1 is related to apomixis in triploid Pingyi Tiancha.


Assuntos
Flores/genética , Malus/genética , Filogenia , Sequência de Aminoácidos/genética , Proteínas de Arabidopsis/genética , Clonagem Molecular , Flores/crescimento & desenvolvimento , Regulação da Expressão Gênica de Plantas , Malus/crescimento & desenvolvimento , Proteínas de Plantas/biossíntese , Proteínas de Plantas/genética , Proteínas Quinases/genética , Alinhamento de Sequência , Tetraploidia , Triploidia
17.
Genet Mol Res ; 14(4): 14597-606, 2015 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-26600519

RESUMO

The aim of this study was to assess the association between three FTO polymorphisms (rs9939609, rs8057044, and rs1421085) and metabolic syndrome (MS)-related outcomes in the low-income, rural, nomadic minority Khazakh population in far western China. A total of 489 subjects (245 MS patients, 244 controls) were included in the study and DNA samples were genotyped for the three polymorphisms by matrix-assisted laser desorption/ionization time of flight mass spectrometry. The frequencies of the rs1421085 and rs9939609 genotypes and alleles did not differ significantly between MS patients and control, while the frequencies of rs8057044 G alleles and GG genotypes were higher in MS patients (P < 0.05) than in control subjects (G: 61.16 vs 53.53%, GG: 39.07 vs 29.05%) and the frequencies of rs8057044 A genotypes and alleles were lower (P < 0.05) in MS patients compared with controls (AA: 17.36 vs 21.99%, A: 38.84 vs 46.47%). Risk analysis of the rs8057044 polymorphism revealed individuals with GA and GG genotypes to have 1.112 and 1.731 times higher risks of developing MS than those with the AA genotype, respectively, while the G allele was found to be associated with a 1.367 times higher risk of developing MS compared with the A allele. These apparent correlations, however, did not hold true when adjusted for BMI. Weight, WC, HC, and BMI differed significantly between rs8057044 GG and AA+GA genotypes (P < 0.05).


Assuntos
Estudos de Associação Genética , Síndrome Metabólica/genética , Obesidade/genética , Proteínas/genética , Adulto , Alelos , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Povo Asiático , China , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Síndrome Metabólica/patologia , Pessoa de Meia-Idade , Obesidade/patologia , Polimorfismo de Nucleotídeo Único
18.
Genet Mol Res ; 14(3): 8338-51, 2015 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-26345760

RESUMO

Zinc (Zn) is considered to be a major industrial pollutant because excessive amounts can impair plant growth. In this paper, we found that peach 'Yoshihime' seedlings are promising Zn tolerant plants. However, heavy Zn toxicity (2 mM) damaged plant performance by disrupting biochemical processes, including photosynthesis, proline production, and K(+) nutrition. Notably, elevated external K(+) supply (10 mM) alleviated peach seedlings from Zn toxicity, evidenced by enhanced photosynthesis, antioxidant defense systems, and plant K(+) nutritional status. Moreover, the transcript levels of KUP (K(+) uptake) genes involved in K(+) acquisition, transport, and homeostasis were significantly upregulated following supply of sufficient K(+) upon Zn toxicity. In general, K(+) favorably contributes to improvements in internal K(+) homeostasis, via the help of K(+) transporters, further protecting plant photosynthesis and the antioxidative defense system. Our findings further benefit the study of the mechanisms underpinning heavy metal tolerance in woody plants.


Assuntos
Antioxidantes/metabolismo , Potássio/metabolismo , Plântula/metabolismo , Estresse Fisiológico/genética , Intoxicação por Metais Pesados , Fotossíntese , Folhas de Planta/efeitos dos fármacos , Folhas de Planta/crescimento & desenvolvimento , Raízes de Plantas/efeitos dos fármacos , Raízes de Plantas/crescimento & desenvolvimento , Intoxicação , Prunus persica/efeitos dos fármacos , Prunus persica/metabolismo , Plântula/efeitos dos fármacos , Estresse Fisiológico/efeitos dos fármacos , Zinco/toxicidade
19.
Genet Mol Res ; 14(2): 6279-88, 2015 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-26125830

RESUMO

We investigated the association between polymorphisms rs1801282 and rs3856806 of the PPARγ gene and metabolic syndrome (MS) among Uyghurs and Kazakhs. Mass spectrometry techniques were used to detect the PPARγ genotypes rs1801282 and rs3856806 in 987 subjects, CC genotype and C allele frequencies were 83.6 and 91.7%, respectively, at rs1801282 in Kazakhs, which were higher than those in Uyghurs (72.3 and 85.0%, respectively; P < 0.05). CC genotype and C allele frequencies were 73.6 and 85.3%, respectively, at the rs3856806 loci in Kazakhs, which were higher than those in Uyghurs (60.7 and 77.9%, respectively; P < 0.05). For the rs3856806 polymorphism in Kazakhs, CT/TT genotype and T allele frequencies were 21.2 and 12.4% for MS subjects, which were lower than those for the control group (31.6 and 17.0%, respectively; P < 0.05). Risk analysis of Kazakhs revealed that individuals with the CT and TT genotypes at rs3856806 had an increased risk, 0.524- and 0.770-fold, respectively, of developing MS than those possessing the CC genotype. Individuals with the T allele also had an increase in risk, by 0.699-fold, of developing MS than those with the C allele. For Uyghurs, those with the CC genotype at rs1801282 had higher systolic blood pressure than those with the CG/GG genotype. Among Kazakhs, those with the CC genotype at rs3856806 had higher triglyceride and waist-hip ratio levels but lower high-density lipoprotein cholesterol levels than those with the CT/TT genotype. The rs1801282 and rs3856806 PPARγ polymorphisms differ between Uyghurs and Kazakhs from Xinjiang Province, China.


Assuntos
Etnicidade/genética , Estudos de Associação Genética , Síndrome Metabólica/genética , PPAR gama/genética , Adolescente , Adulto , Idoso , Povo Asiático/genética , China , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Síndrome Metabólica/patologia , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Relação Cintura-Quadril
20.
Genet Mol Res ; 14(2): 7130-5, 2015 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-26125923

RESUMO

We investigated the impact of early enteral nutrition (EEN) and parenteral nutrition (PN) on prealbumin (PA) and high-sensitivity C-reactive protein (hs-CRP) in patients after gastric cancer surgery. Sixty-eight selected patients undergoing gastric cancer surgery were randomly divided into the EEN (N = 34) and PN (N = 34) groups. Body weight (BW), serum albumin (ALB), transferrin (TF), PA, hs-CRP, length of hospital stay, cost of postoperative nutritional support, and incidence of complications were compared between groups. On postoperative day 7, the BW, TF, ALB, and PA for both groups were significantly decreased compared with the values obtained on preoperative day 1 (P < 0.01). A significant decrease was observed in TF and PA in the PN group compared with the EEN group (P < 0.01). There was no significant difference in BW and ALB between the two groups (P > 0.05). The hs-CRP level of both groups was significantly higher than on preoperative day 1. There was a significant increase in hs-CRP in the PN group compared with the EEN group (P < 0.01). The anal exhaust time, length of hospital stay, and nutritional support cost were significantly shorter or lower in the EEN group than in the PN group (P < 0.01). There was no significant difference in the incidence of complications between the two groups (P > 0.05). EEN helps regulate the postoperative response of patients after gastric cancer surgery, promotes rehabilitation, and accelerates the recovery of gastrointestinal function. Furthermore, EEN has the advantage of being inexpensive.


Assuntos
Proteína C-Reativa/metabolismo , Nutrição Enteral/economia , Nutrição Parenteral/economia , Pré-Albumina/metabolismo , Neoplasias Gástricas/sangue , Neoplasias Gástricas/economia , Idoso , Idoso de 80 Anos ou mais , Peso Corporal , Nutrição Enteral/métodos , Feminino , Gastrectomia , Humanos , Tempo de Internação/economia , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Nutrição Parenteral/métodos , Cuidados Pós-Operatórios , Albumina Sérica/metabolismo , Neoplasias Gástricas/patologia , Neoplasias Gástricas/cirurgia , Fatores de Tempo , Transferrina/metabolismo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA