Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 40
Filtrar
1.
PLoS Pathog ; 20(9): e1012534, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39259722

RESUMO

Legionella longbeachae and Legionella pneumophila are the most common causative agents of Legionnaires' disease. While the clinical manifestations caused by both species are similar, species-specific differences exist in environmental niches, disease epidemiology, and genomic content. One such difference is the presence of a genomic locus predicted to encode a capsule. Here, we show that L. longbeachae indeed expresses a capsule in post-exponential growth phase as evidenced by electron microscopy analyses, and that capsule expression is abrogated when deleting a capsule transporter gene. Capsule purification and its analysis via HLPC revealed the presence of a highly anionic polysaccharide that is absent in the capsule mutant. The capsule is important for replication and virulence in vivo in a mouse model of infection and in the natural host Acanthamoeba castellanii. It has anti-phagocytic function when encountering innate immune cells such as human macrophages and it is involved in the low cytokine responses in mice and in human monocyte derived macrophages, thus dampening the innate immune response. Thus, the here characterized L. longbeachae capsule is a novel virulence factor, unique among the known Legionella species, which may aid L. longbeachae to survive in its specific niches and which partly confers L. longbeachae its unique infection characteristics.


Assuntos
Cápsulas Bacterianas , Evasão da Resposta Imune , Legionella longbeachae , Animais , Camundongos , Cápsulas Bacterianas/imunologia , Cápsulas Bacterianas/metabolismo , Legionella longbeachae/imunologia , Humanos , Doença dos Legionários/imunologia , Doença dos Legionários/microbiologia , Macrófagos/microbiologia , Macrófagos/imunologia , Fatores de Virulência/metabolismo , Acanthamoeba castellanii/microbiologia , Virulência
2.
J Fish Biol ; 105(4): 1044-1059, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38978288

RESUMO

The genus Urotrygon comprises small- to medium-sized endemic round rays on the American continent and has undergone several synonymization processes. Here, we used an integrative taxonomic approach, including meristic, morphometric, and mtDNA analyses, to resolve the particularly intricate relationship among Urotrygon munda Gill, 1863, Urotrygon chilensis (Günther, 1872), and Urotrygon asterias (Jordan & Gilbert, 1883). The latter species is currently a synonym of U. munda but is also considered the U. chilensis "northern morphotype." These taxonomic entities have historically been confounded, mainly due to their phenotypical resemblance along their geographic distribution in the eastern Pacific. We assessed 78 specimens (43 "northern" and 30 "southern morphotypes" of U. chilensis, as well as 5 U. munda) using 19 external variables for taxonomic and morphometric analysis. Distinct meristic patterns, including pectoral and pelvic ceratotrichia, vertebrae number, and thorn distribution along the dorsal midline, were observed in the series-type specimens of the three taxonomic entities. Our multivariate morphometric analyses consistently differentiated the three groups as distinct taxonomic entities, with an overall classification accuracy of 66.7%. The meristic results also provided reliable information distinguishing the three entities. Based on the nicotinamide adenine dinucleotide (NADH2) and cytochrome oxidase subunit I (COI) genes, our phylogenetic analysis were consistent with the morphometric and meristic data, supporting these three entities as distinct species having their own evolutionary lineages. Our comprehensive approach confidently demonstrated that the northern U. chilensis morphotype matched and corresponded to the description of the Starry round ray, U. asterias, confirming its taxonomic resurrection as a valid species distinct from U. chilensis and U. munda. The geographic distribution of U. asterias spans from the tropical west coast of Mexico (including the Gulf of California) to Costa Rica, revealing that microevolutionary processes have well-defined population clades within this range. Furthermore, U. chilensis is unequivocally established as the sole Urotrygon species occurring south of the Guayaquil marine ecoregion. In addition, the public COI and NADH2 sequences available for Urotrygon hosted in the ad hoc online databases were found to be misidentified, emphasizing the need for rigorous taxonomic scrutiny in this group. Finally, our research underscores the significance of an integrative approach that combines morphometric, meristic, and molecular techniques with historical data to disentangle the complexities of closely related taxa.


Assuntos
DNA Mitocondrial , Filogenia , Rajidae , Animais , Rajidae/genética , Rajidae/anatomia & histologia , Rajidae/classificação , DNA Mitocondrial/genética , Análise de Sequência de DNA , Variação Genética
3.
J Fish Biol ; 104(3): 723-736, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37961022

RESUMO

Body morphology is a valuable feature for distinguishing teleostean fishes. However, the utility of character variation in separate body regions has yet to be tested. The taxonomy of the Gerreidae family is controversial due to character overlapping among its fish species. This work aims to analyze and compare the body shape variation in three regions, cephalic, trunk, and caudal peduncle, using landmark data and geometric morphometric methods in 17 species and five genera of the family Gerreidae. The pattern of shape variation for the cephalic region consisted of well-defined character states exclusive of each species analyzed. Shape variation in the trunk and caudal peduncle regions does not distinguish all species in this study. This study showed that the dorsal cephalic profile is highly variable among the species, therefore, shape variation in this region is useful for distinguishing Gerreidae species. In contrast, some species within the same genus share similar shape states in the trunk and caudal peduncle regions, with the most shape variation in the dorsal profile and anal fin for the trunk and in the middle of the caudal peduncle.


Assuntos
Peixes , Animais
4.
Int Rev Cell Mol Biol ; 374: 37-81, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36858656

RESUMO

Legionella pneumophila is the causative agent of Legionnaires' disease, a severe pneumonia. L. pneumophila injects via a type-IV-secretion-system (T4SS) more than 300 bacterial proteins into macrophages, its main host cell in humans. Certain of these bacterial effectors target organelles in the infected cell and hijack multiple processes to facilitate all steps of the intracellular life cycle of this pathogen. In this review, we discuss the interplay between L. pneumophila, an intracellular bacterium fully armed with virulence tools, and mitochondria, the extraordinary eukaryotic organelles playing prominent roles in cellular bioenergetics, cell-autonomous immunity and cell death. We present and discuss key findings concerning the multiple interactions of L. pneumophila with mitochondria during infection and the mechanisms employed by T4SS effectors that target mitochondrial functions to subvert infected cells.


Assuntos
Legionella , Humanos , Mitocôndrias , Morte Celular , Eucariotos , Macrófagos
5.
STAR Protoc ; 4(2): 102175, 2023 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-36933221

RESUMO

Regulation of bioenergetics and cell death are pivotal mitochondrial functions determining the responses of macrophages to infection. Here, we provide a protocol to investigate mitochondrial functions during infection of macrophages by intracellular bacteria. We describe steps for quantifying mitochondrial polarization, cell death, and bacterial infection in infected, living, human primary macrophages at the single-cell level. We also detail the use of the pathogen Legionella pneumophila as model. This protocol can be adapted to investigate mitochondrial functions in other settings. For complete details on the use and execution of this protocol, please refer to Escoll et al. (2021).1.

6.
PLoS Genet ; 18(8): e1010169, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35951639

RESUMO

2-deoxyglucose is a glucose analog that impacts many aspects of cellular physiology. After its uptake and its phosphorylation into 2-deoxyglucose-6-phosphate (2DG6P), it interferes with several metabolic pathways including glycolysis and protein N-glycosylation. Despite this systemic effect, resistance can arise through strategies that are only partially understood. In yeast, 2DG resistance is often associated with mutations causing increased activity of the yeast 5'-AMP activated protein kinase (AMPK), Snf1. Here we focus on the contribution of a Snf1 substrate in 2DG resistance, namely the alpha-arrestin Rod1 involved in nutrient transporter endocytosis. We report that 2DG triggers the endocytosis of many plasma membrane proteins, mostly in a Rod1-dependent manner. Rod1 participates in 2DG-induced endocytosis because 2DG, following its phosphorylation by hexokinase Hxk2, triggers changes in Rod1 post-translational modifications and promotes its function in endocytosis. Mechanistically, this is explained by a transient, 2DG-induced inactivation of Snf1/AMPK by protein phosphatase 1 (PP1). We show that 2DG-induced endocytosis is detrimental to cells, and the lack of Rod1 counteracts this process by stabilizing glucose transporters at the plasma membrane. This facilitates glucose uptake, which may help override the metabolic blockade caused by 2DG, and 2DG export-thus terminating the process of 2DG detoxification. Altogether, these results shed a new light on the regulation of AMPK signaling in yeast and highlight a remarkable strategy to bypass 2DG toxicity involving glucose transporter regulation.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Proteínas de Saccharomyces cerevisiae , Proteínas Quinases Ativadas por AMP/genética , Proteínas Quinases Ativadas por AMP/metabolismo , Desoxiglucose/farmacologia , Endocitose/genética , Glucose/metabolismo , Proteínas Facilitadoras de Transporte de Glucose/genética , Proteínas Facilitadoras de Transporte de Glucose/metabolismo , Humanos , Redes e Vias Metabólicas , Saccharomyces cerevisiae/metabolismo , Proteínas de Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/metabolismo
7.
J Fish Dis ; 45(3): 395-409, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34871460

RESUMO

Although morphological abnormalities in several rays and skate species around the American continents have frequently mentioned, their numbers are unknown. The present work record morphological abnormalities in four Urotrygonidae species. Two anophthalmic specimens were detected (Urotrygon microphthalmum and Urobatis halleri). Two individuals lacked caudal fins (Urobatis maculatus and Urotrygon chilensis). Two round rays showed incomplete fusion of the pectoral fin to the head (U. microphthalmum and U. chilensis). Vertebral compression and fusion were found in a 6-year-old female Urotrygon rogersi. In addition, 118 abnormal batomorph specimens were gathered from the available bibliography, spanning the last six decades (1959-2021). Amblyraja doellojuradoi was the species with the highest number of abnormalities (18). The most common anomaly was an incomplete fusion of the pectoral fin with the head. Since 2010, at least 30 anomalous batomorphs have been recorded every 5 years. Sixty-nine abnormal specimens occurred in the Northern Hemisphere (1.00-60.00 N). The Cortezian (Pacific) and Southeastern Brazil (Atlantic) marine ecoregions stood out with the highest number of these specimens. Mexico recorded 58 anomalous specimens, followed by Brazil (n = 36). Biological, abiotic and anthropogenic factors are probably the leading causes. However, additional studies are necessary to elucidate these speculations.


Assuntos
Elasmobrânquios , Doenças dos Peixes , Rajidae , Animais , Brasil , Feminino , México
8.
Mol Biol Rep ; 48(10): 7007-7012, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34426903

RESUMO

BACKGROUND: Octopus hubbsorum Berry, 1953 is the most important species for commercial fishing in the Mexican Pacific. However, there is a lack of information regarding population structure that could have important management implications. We tested 44 microsatellite loci in O. hubbsorum by cross-amplification from O. bimaculatus. METHODS AND RESULTS: Genetic diversity and structure was tested over 30 octopus sampled from Santa Cruz de Miramar (Nayarit, México). A total of 11 loci were successfully amplified. All loci were polymorphic with the number of effective alleles ranging from 2.13 to 23.14, while three loci significantly deviated from Hardy-Weinberg equilibrium. No significant LD was observed between pairs of loci (P ≥ 0.05). The application of the new markers in a O. hubbsorum population from Santa Cruz de Miramar Nayarit, México, did not showed Wahlund or isolate breaking effects due to the mixing of distinct populations. CONCLUSIONS: The loci were useful to estimate levels of pairwise relatedness and to discard the presence of recent demographic bottlenecks in the population. We consider that eight microsatellites are adequate from the 11 amplified loci.


Assuntos
Variação Genética , Repetições de Microssatélites/genética , Octopodiformes/genética , Animais , Geografia , México
9.
Zootaxa ; 4915(3): zootaxa.4915.3.2, 2021 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-33756560

RESUMO

Historically, the taxonomic identification of the two snook species, Centropomus viridis and C. nigrescens, has been challenging due to their morphological similarity and the inconsistency of the characters used for diagnosis. Therefore, this study aimed to evaluate the usefulness of the morphologic, meristic, and morphometric characters currently being used to identify C. viridis and C. nigrescens, based on molecular data. The results showed that the gas-bladder shape (i.e., C. viridis with diverticula and C. nigrescens without diverticula) was the only morphological character univocally related to genetic identification. Likewise, geometric morphometrics separated two groups; each corresponds to only one of two genetically (and gas bladder shape) identified species. Of all the meristic characters examined, only the second dorsal fin ray count (nine for C. viridis and ten for C. nigrescens) was related to the gas bladder shape and genetic identity; therefore, it is the only external character with a diagnostic utility to separate each species.


Assuntos
Perciformes , Animais , Peixes
10.
PeerJ ; 7: e8118, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31803534

RESUMO

Species of the genus Octopus from the northeastern Pacific are ecologically and economically important; however, their taxonomy is confusing and has not been comprehensively assessed. In this study, we performed a taxonomic evaluation of these species considering the morphological characteristics of the original descriptions, a molecular analysis of partial COI-gene sequences, and a traditional morphometry analysis of nine body measurements. Several interesting findings were obtained with our results: for instance, we updated the diagnoses of some species by including characters such as the number of lamellae per demibranch and the presence of chromatophores in the visceral sac; we deposited partial COI-gene sequences of species that had not been incorporated into the GenBank repository; and according to the morphometric analysis, we confirmed that the lengths of arms I-IV are relevant to discriminate the species under study. The taxa evaluated were morphologically, molecularly and morphometrically well-delimited; however, features such as funnel organ shape and arm length proportions in regard to dorsal mantle length are either not included in the diagnosis of the genus Octopus or overlap with other genera. Hence, this information, combined with the results obtained from the molecular analysis, supports the generic re-assignation of two of the species evaluated.

11.
Mitochondrial DNA A DNA Mapp Seq Anal ; 30(3): 517-524, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30829095

RESUMO

In the present study, the population genetic structure of the Pacific thread herring (Opisthonema libertate) was analyzed through mitochondrial DNA (mtDNA) control region sequences. Organisms were collected from June 2015 to July 2015 from four commercial landing sites (Bahia Magdalena, Guaymas and Mazatlan, Mexico, and Puntarenas, Costa Rica) and one artisanal sampling site (Puerto La Libertad, El Salvador). A total of 125 sequences were analyzed. High levels of haplotype (h = 0.990) and nucleotide (π = 0.030) diversity were found. Pairwise Φst comparisons indicated differences attributed mainly to the organisms from El Salvador. However, Bayesian inferences did not support the existence of different populations. The haplotype distribution between locations did not show a clear phylogeographic pattern. Mismatched distribution showed a unimodal pattern for the five sampled areas, indicative of sudden demographic expansion. These results were supported by Bayesian skyline plot. Our results do not support the hypothesis that the Pacific thread herring presents a population genetic structure. Future genetic comparisons should include a larger number of samples as well as more polymorphic molecular markers to further support our results.


Assuntos
DNA Mitocondrial/genética , Peixes/genética , Variação Genética/genética , Animais , DNA Mitocondrial/isolamento & purificação , Genética Populacional , Oceano Pacífico
12.
Dis Model Mech ; 11(6)2018 06 21.
Artigo em Inglês | MEDLINE | ID: mdl-29752286

RESUMO

Cisplatin and derivatives are commonly used as chemotherapeutic agents. Although the cytotoxic action of cisplatin on cancer cells is very efficient, clinical oncologists need to deal with two major difficulties, namely the onset of resistance to the drug and the cytotoxic effect in patients. Here, we used Caenorhabditis elegans to investigate factors influencing the response to cisplatin in multicellular organisms. In this hermaphroditic model organism, we observed that sperm failure is a major cause of cisplatin-induced infertility. RNA sequencing data indicate that cisplatin triggers a systemic stress response, in which DAF-16/FOXO and SKN-1/NRF2, two conserved transcription factors, are key regulators. We determined that inhibition of the DNA damage-induced apoptotic pathway does not confer cisplatin protection to the animal. However, mutants for the pro-apoptotic BH3-only gene ced-13 are sensitive to cisplatin, suggesting a protective role of the intrinsic apoptotic pathway. Finally, we demonstrated that our system can also be used to identify mutations providing resistance to cisplatin and therefore potential biomarkers of innate cisplatin-refractory patients. We show that mutants for the redox regulator trxr-1, ortholog of the mammalian thioredoxin reductase 1 TRXR1, display cisplatin resistance. By CRISPR/Cas9, we determined that such resistance relies on the presence of the single selenocysteine residue in TRXR-1.This article has an associated First Person interview with the first author of the paper.


Assuntos
Antineoplásicos/farmacologia , Caenorhabditis elegans/citologia , Caenorhabditis elegans/genética , Cisplatino/farmacologia , Animais , Apoptose/efeitos dos fármacos , Bioensaio , Caenorhabditis elegans/efeitos dos fármacos , Proteínas de Caenorhabditis elegans/metabolismo , Masculino , Mutação de Sentido Incorreto/genética , Análise de Sequência de RNA , Espermatozoides/efeitos dos fármacos , Espermatozoides/metabolismo , Transcrição Gênica/efeitos dos fármacos
13.
Clin Cancer Res ; 24(15): 3755-3766, 2018 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-29618620

RESUMO

Purpose: To investigate the genetic basis of cisplatin resistance as efficacy of cisplatin-based chemotherapy in the treatment of distinct malignancies is often hampered by intrinsic or acquired drug resistance of tumor cells.Experimental Design: We produced 14 orthoxenograft transplanting human nonseminomatous testicular germ cell tumors (TGCT) in mice, keeping the primary tumor features in terms of genotype, phenotype, and sensitivity to cisplatin. Chromosomal and genetic alterations were evaluated in matched cisplatin-sensitive and their counterpart orthoxenografts that developed resistance to cisplatin in nude mice.Results: Comparative genomic hybridization analyses of four matched orthoxenografts identified recurrent chromosomal rearrangements across cisplatin-resistant tumors in three of them, showing gains at 9q32-q33.1 region. We found a clinical correlation between the presence of 9q32-q33.1 gains in cisplatin-refractory patients and poorer overall survival (OS) in metastatic germ cell tumors. We studied the expression profile of the 60 genes located at that genomic region. POLE3 and AKNA were the only two genes deregulated in resistant tumors harboring the 9q32-q33.1 gain. Moreover, other four genes (GCS, ZNF883, CTR1, and FLJ31713) were deregulated in all five resistant tumors independently of the 9q32-q33.1 amplification. RT-PCRs in tumors and functional analyses in Caenorhabditis elegans (C. elegans) indicate that the influence of 9q32-q33.1 genes in cisplatin resistance can be driven by either up- or downregulation. We focused on glucosylceramide synthase (GCS) to demonstrate that the GCS inhibitor DL-threo-PDMP resensitizes cisplatin-resistant germline-derived orthoxenografts to cisplatin.Conclusions: Orthoxenografts can be used preclinically not only to test the efficiency of drugs but also to identify prognosis markers and gene alterations acting as drivers of the acquired cisplatin resistance. Clin Cancer Res; 24(15); 3755-66. ©2018 AACR.


Assuntos
Cisplatino/efeitos adversos , DNA Polimerase III/genética , Proteínas de Ligação a DNA/genética , Neoplasias Embrionárias de Células Germinativas/tratamento farmacológico , Proteínas Nucleares/genética , Nucleoproteínas/genética , Neoplasias Testiculares/tratamento farmacológico , Fatores de Transcrição/genética , Adolescente , Adulto , Animais , Linhagem Celular Tumoral , Aberrações Cromossômicas/efeitos dos fármacos , Cromossomos Humanos Par 9/efeitos dos fármacos , Cromossomos Humanos Par 9/genética , Cisplatino/administração & dosagem , Resistencia a Medicamentos Antineoplásicos/genética , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Genômica , Humanos , Masculino , Camundongos , Pessoa de Meia-Idade , Neoplasias Embrionárias de Células Germinativas/genética , Neoplasias Embrionárias de Células Germinativas/patologia , Mutação Puntual/genética , Neoplasias Testiculares/genética , Neoplasias Testiculares/patologia , Ensaios Antitumorais Modelo de Xenoenxerto , Adulto Jovem
14.
PeerJ ; 6: e4295, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29472993

RESUMO

The fishery for octopus in Northwest Mexico has increased to over 2,000 tons annually, but to date the specific composition of the catch has been ignored. With at least three main species targeted by artisanal fisheries in the region with distinct life histories, the lack of basic biological information about the distribution, metapopulation size and structure of each species could impede effective fisheries management to avoid overexploitation. We tested if different life histories of three species of octopus could help predict observed patterns of genetic diversity, population dynamics, structure and connectivity and how this information could be relevant to the sustainable management of the fishery. We sequenced two mitochondrial genes and genotyped seven nuclear microsatellite loci to identify the distribution of each species in 20 locations from the Gulf of California and the west coast of the Baja California peninsula. We tested five hypotheses derived from population genetic theory based on differences in the fecundity and dispersal potential for each species. We discovered that Octopus bimaculoides with low fecundity and direct development (without a planktonic phase) had lower average effective population size and genetic diversity, but higher levels of kinship, population structure, and richness of private alleles, than the other two species. These features indicated limited dispersal and high local recruitment. In contrast, O. bimaculatus and O. hubbsorum with higher fecundity and planktonic phase as paralarvae had higher effective population size and genetic diversity, and overall lower kinship and population structure than O. bimaculoides. These observations supported higher levels of gene flow over a larger geographical scale. O. bimaculatus with the longest planktonic paralarval duration and therefore larger dispersal potential had differences in the calculated parameters possibly associated with increased connectivity. We propose O. bimaculoides is more susceptible to over exploitation of small, isolated populations and could have longer recovery times than the other two species. This species may benefit from distinct fishery management within each local population. O. bimaculatus and O. hubbsorum may benefit from fishery management that takes into account metapopulation structure over larger geographic scales and the directionality and magnitude of larval dispersal driven by ocean currents and population connectivity among individuals of each locality. The distribution of each species and variations in their reproductive phenology is also important to consider when establishing marine reserves or seasonal fishing closures.

15.
J Immunol Res ; 2016: 8519648, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27975070

RESUMO

Extracellular matrix metalloproteases and the fibrinolytic system are important protease systems interacting with each other in charge of remodeling and recycling of tissues. Their role in tumor invasion and metastasis is often discussed. In this study several metalloproteases such as MMP-1, MMP-3, MMP-9, and TIMP-1 together with molecules from the fibrinolytic system like uPA, its receptor uPAR, and its inhibitor, PAI-1, were studied by immune-histochemistry to establish a comparison with and without metastasis. From the (118) primary tumors of Mexican patients with ductal breast cancer studied, 56% were grade II and 69% were size T2; the group with metastatic ganglia included 64 samples (54.3%). In patients with metastasis the estimated expression of MMP-3 and uPA (resp., 28% and 45%) was higher than that from no metastatic tumors; it means there is higher expression of both markers in metastatic tumors (p < 0.05). At the same time, metastatic tumors showed statistically significant lower signal of PAI-1 (24%) than tumors without metastasis (p < 0.05). We concluded that overexpression of MMP-3 and uPA, altogether with diminished expression of PAI-1 from metastatic tumors, might be a crucial step towards metastasis in ductal breast cancer. Nevertheless, additional studies in different populations are necessary to establish a pattern.


Assuntos
Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/patologia , Metaloproteinase 3 da Matriz/genética , Inibidor 1 de Ativador de Plasminogênio/genética , Ativador de Plasminogênio Tipo Uroquinase/genética , Adulto , Idoso , Biomarcadores Tumorais , Neoplasias da Mama/epidemiologia , Carcinoma Ductal de Mama/epidemiologia , Feminino , Expressão Gênica , Hospitalização , Humanos , Metaloproteinases da Matriz/genética , Metaloproteinases da Matriz/metabolismo , México/epidemiologia , Pessoa de Meia-Idade , Gradação de Tumores , Metástase Neoplásica , Estadiamento de Neoplasias , Fenótipo , Vigilância da População , Estudos Retrospectivos , Carga Tumoral
16.
Mitochondrial DNA A DNA Mapp Seq Anal ; 27(6): 4584-4585, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-26540145

RESUMO

The complete mitochondrial genome of Octopus bimaculatus is 16 085 bp in length and includes 13 protein-codes genes, 2 ribosomal RNA genes, 22 transfers RNA genes, and a control region. The composition of genome is A (40.9%), T (34.7%), C (16.9%), and G (7.5%). The control region of O. bimaculatus contains a VNTR locus not present in the genomes from other octopus species. A phylogenetic analysis shows a closer relationship between the mitogenomes from O. bimaculatus and O. vulgaris.


Assuntos
Genoma Mitocondrial , Octopodiformes/genética , Animais , Composição de Bases , California , Octopodiformes/classificação , Fases de Leitura Aberta/genética , Filogenia , RNA Ribossômico/química , RNA Ribossômico/genética , RNA de Transferência/química , RNA de Transferência/genética
17.
Cir Cir ; 84(3): 245-9, 2016.
Artigo em Espanhol | MEDLINE | ID: mdl-26272425

RESUMO

BACKGROUND: Clear cell carcinoma originating in the abdominal wall is a rare event. It is generally associated with endometrial tissue implants left behind after a caesarean section or other gynaecological operations. Its pathophysiology is complex and controversial. CLINICAL CASE: The case is presented of a 45 year-old female with history of three caesarean sections, who was seen due to having a tumour mass of 6 months onset in the anterior abdominal wall. Imaging studies confirmed its location, and due to measuring 9 by 7 cm it was suspected to be an urachal tumour. A resection with wide margins was performed. The histopathology report was of a clear cell adenocarcinoma originated in ectopic endometrial tissue, with negative margins. CONCLUSION: This is a very rare case, with few cases reported in the literature. This diagnosis should be included in tumours of the abdominal wall.


Assuntos
Neoplasias Abdominais/etiologia , Parede Abdominal/patologia , Adenocarcinoma de Células Claras/etiologia , Endometriose/complicações , Neoplasias Abdominais/diagnóstico por imagem , Neoplasias Abdominais/cirurgia , Parede Abdominal/diagnóstico por imagem , Parede Abdominal/cirurgia , Adenocarcinoma de Células Claras/diagnóstico por imagem , Adenocarcinoma de Células Claras/cirurgia , Cesárea/efeitos adversos , Diagnóstico Diferencial , Feminino , Humanos , Doença Iatrogênica , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Úraco
18.
RNA ; 21(12): 2119-31, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26490224

RESUMO

Retinitis pigmentosa (RP) is a rare genetic disease that causes gradual blindness through retinal degeneration. Intriguingly, seven of the 24 genes identified as responsible for the autosomal-dominant form (adRP) are ubiquitous spliceosome components whose impairment causes disease only in the retina. The fact that these proteins are essential in all organisms hampers genetic, genomic, and physiological studies, but we addressed these difficulties by using RNAi in Caenorhabditis elegans. Our study of worm phenotypes produced by RNAi of splicing-related adRP (s-adRP) genes functionally distinguishes between components of U4 and U5 snRNP complexes, because knockdown of U5 proteins produces a stronger phenotype. RNA-seq analyses of worms where s-adRP genes were partially inactivated by RNAi, revealed mild intron retention in developing animals but not in adults, suggesting a positive correlation between intron retention and transcriptional activity. Interestingly, RNAi of s-adRP genes produces an increase in the expression of atl-1 (homolog of human ATR), which is normally activated in response to replicative stress and certain DNA-damaging agents. The up-regulation of atl-1 correlates with the ectopic expression of the pro-apoptotic gene egl-1 and apoptosis in hypodermal cells, which produce the cuticle, but not in other cell types. Our model in C. elegans resembles s-adRP in two aspects: The phenotype caused by global knockdown of s-adRP genes is cell type-specific and associated with high transcriptional activity. Finally, along with a reduced production of mature transcripts, we propose a model in which the retina-specific cell death in s-adRP patients can be induced through genomic instability.


Assuntos
Apoptose , Retinose Pigmentar/genética , Animais , Proteínas Mutadas de Ataxia Telangiectasia/genética , Proteínas Mutadas de Ataxia Telangiectasia/metabolismo , Caenorhabditis elegans , Proteínas de Caenorhabditis elegans/genética , Proteínas de Caenorhabditis elegans/metabolismo , Genes Dominantes , Especificidade de Órgãos , Interferência de RNA , Splicing de RNA , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo , Retinose Pigmentar/patologia , Ribonucleoproteína Nuclear Pequena U4-U6/genética , Ribonucleoproteína Nuclear Pequena U5/genética
19.
RNA ; 21(9): 1544-53, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26150554

RESUMO

Genes coding for members of the Sm-like (LSm) protein family are conserved through evolution from prokaryotes to humans. These proteins have been described as forming homo- or heterocomplexes implicated in a broad range of RNA-related functions. To date, the nuclear LSm2-8 and the cytoplasmic LSm1-7 heteroheptamers are the best characterized complexes in eukaryotes. Through a comprehensive functional study of the LSm family members, we found that lsm-1 and lsm-3 are not essential for C. elegans viability, but their perturbation, by RNAi or mutations, produces defects in development, reproduction, and motility. We further investigated the function of lsm-1, which encodes the distinctive protein of the cytoplasmic complex. RNA-seq analysis of lsm-1 mutants suggests that they have impaired Insulin/IGF-1 signaling (IIS), which is conserved in metazoans and involved in the response to various types of stress through the action of the FOXO transcription factor DAF-16. Further analysis using a DAF-16::GFP reporter indicated that heat stress-induced translocation of DAF-16 to the nuclei is dependent on lsm-1. Consistent with this, we observed that lsm-1 mutants display heightened sensitivity to thermal stress and starvation, while overexpression of lsm-1 has the opposite effect. We also observed that under stress, cytoplasmic LSm proteins aggregate into granules in an LSM-1-dependent manner. Moreover, we found that lsm-1 and lsm-3 are required for other processes regulated by the IIS pathway, such as aging and pathogen resistance.


Assuntos
Proteínas de Caenorhabditis elegans/genética , Proteínas de Caenorhabditis elegans/metabolismo , Caenorhabditis elegans/fisiologia , Proteínas de Transporte/genética , Proteínas de Transporte/metabolismo , Citoplasma/metabolismo , Proteínas de Ligação a RNA/genética , Proteínas de Ligação a RNA/metabolismo , Animais , Sequência de Bases , Caenorhabditis elegans/genética , Sequência Conservada , Fatores de Transcrição Forkhead/metabolismo , Genes Essenciais , Temperatura Alta , Humanos , Insulina/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Mutação , Transdução de Sinais , Estresse Fisiológico
20.
Cir Cir ; 82(1): 20-7, 2014.
Artigo em Espanhol | MEDLINE | ID: mdl-25510788

RESUMO

BACKGROUND: Medullary breast cancer is a rare type, considered of good prognosis. OBJECTIVE: To know the epidemiological and clinical characteristics of the population attended in the Hospital Juarez de Mexico, to know if they are alike to described worldwide and if the treatments proposed internationally are applicable for this hospitable center. METHODS: We performed a retrospective analysis. Reviewing the records with histopathologic diagnosis of medullary breast cancer from February 1993 to February 2011. Finding 41 patients in the oncology unit of the institution. RESULTS: We report an incidence of 3.04%, originating in 11 Mexican States, with a low to middle socioeconomic level in 39.02%. The average age at the time of diagnosis was 50 years. No family history was reported but some patients had medical history for type 2 diabetes, hypertension and previous breast cancer. 63.41% were menopausal. The average clinical size of the tumor was 58 mm. The 63% of the cases were located in the left breast. The 53.1% were clinical stages I and II, 46.3% were clinical stages III and in 9.6% of the cases primary tumor could not be assessed. Only 47% of the patients had positive axillary lynph nodes at diagnosis. The inmunohistochemestry was only reported in 14 of the 41 patients, according to the molecular classification of breast cancer: 8 were triple negative, 2 luminal A, 1 luminal B and 3 Her2neu. CONCLUSIONS: The Mexican population presents epidemiological and clinical characteristics similar to those patients described in other studies worldwide.


Antecedentes: el carcinoma de mama, variante medular, es poco frecuente y de buen pronóstico. Objetivo: conocer las características epidemiológicas y clínicas de la población atendida en el Hosital Juárez de México, saber si se asemejan a las descritas a nivel mundial y si los tratamientos propuestos internacionalmente son aplicables para este centro hospitalario. Material y métodos: estudio retrospectivo y descriptivo de 41 expedientes de pacientes con cáncer de mama tipo medular atendidas entre febrero de 1993 y febrero 2011. Resultados: se encontró que la incidencia de cáncer de mama de tipo medular fue de 3.04% en pacientes originarias de 11 estados mexicanos, con edad promedio de 50 años, nivel socioeconómico medio bajo para 39.02%, sin antecedentes familiares pero sí personales patológicos para: diabetes mellitus tipo 2, hipertensión arterial sistémica y cáncer de mama previo. Eran postmenopáusicas 63.41%. El promedio del tamaño clínico del tumor fue 58 mm, localizado en 63% de los casos en la mama izquierda. Los estadios clínicos fueron: 53.1% en I y II, 46.3% en III y 9.6% no etapificable. El 47% de las pacientes tenía ganglios linfáticos axilares positivos al momento del diagnóstico. La inmunohistoquímica sólo se reportó en 14 de las 41 pacientes; de acuerdo con la clasificación molecular para cáncer de mama: 8 fueron triple negativo, 2 luminal A, 1 luminal B y 3 Her2Neu. Conclusión: la población mexicana tiene características epidemiológicas y clínicas similares a las de las pacientes descritas en estudios internacionales.


Assuntos
Neoplasias da Mama/epidemiologia , Carcinoma Medular/epidemiologia , Idoso , Biomarcadores Tumorais , Neoplasias da Mama/química , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Carcinoma Medular/química , Carcinoma Medular/diagnóstico , Carcinoma Medular/patologia , Carcinoma Medular/cirurgia , Comorbidade , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Incidência , Menopausa , México/epidemiologia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Segunda Neoplasia Primária/epidemiologia , Segunda Neoplasia Primária/patologia , Prognóstico , Estudos Retrospectivos , Fatores Socioeconômicos , Taxa de Sobrevida , Neoplasias de Mama Triplo Negativas/química , Neoplasias de Mama Triplo Negativas/epidemiologia , Neoplasias de Mama Triplo Negativas/patologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA