RESUMO
Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the most prevalent diseases in Caucasian populations. Epidemiological data show that the incidence of CF varies between countries and ethnic groups in the same region. CF occurs due to pathogenic variants in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome 7q31.2. To date, more than 2,000 variants have been registered in the CFTR database. The study of these variants leads to the diagnosis and the possibility of a specific treatment for each patient through precision medicine. In this study, complete screening of CFTR was performed through next-generation sequencing (NGS) to gain insight into the variants circulating in the population of Rio de Janeiro and to provide patient access to treatment through genotype-specific therapies. Samples from 93 patients with an inconclusive molecular diagnosis were subjected to full-length screening of CFTR using an Illumina NGS HiSeq platform. Among these patients, 46 had two pathogenic variants, whereas 12 had only one CFTR variant. Twenty-four variants were not part of our routine screening. Of these 24 variants, V938Gfs∗37 had not been described in the CF databases previously. This research achieved a molecular diagnosis of the patients with CF and identification of possible molecular candidates for genotype-specific treatments.
Assuntos
Cromossomos Humanos Par 7/química , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Mutação , Adolescente , Adulto , Brasil , Criança , Pré-Escolar , Estudos de Coortes , Fibrose Cística/diagnóstico , Fibrose Cística/etnologia , Fibrose Cística/patologia , Feminino , Expressão Gênica , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Medicina de Precisão , População BrancaRESUMO
Leptospirosis is a worldwide zoonosis caused by pathogenic species of Leptospira In Brazil, this disease is endemic, presenting epidemic potential in rainy seasons. Here, we announce the whole-genome sequences of two L. interrogans serovar Copenhageni strains isolated from blood samples from two icteric patients associated with severe leptospirosis in Brazil.
RESUMO
In Brazil, A. baumannii has been described as nosocomial pathogens causing hospital-acquired infections. Current WGS technologies have been useful in identifying of genetic features between Acinetobacter isolates. Here, we report the draft genome sequence of OXA-23 producing A. baumannii CCBH15815 clinical isolate, belonging to ST730/ST783, recovered from a 21-year-old hospitalised patient. We observed important resistance determinant genes, especially beta-lactamases-encoding genes, in an estimated genome size of 4,058,633 bp with 3839 predicted coding regions.
Assuntos
Infecções por Acinetobacter/microbiologia , Acinetobacter baumannii/genética , Acinetobacter baumannii/isolamento & purificação , Proteínas de Bactérias/metabolismo , Infecção Hospitalar/microbiologia , beta-Lactamases/metabolismo , Acinetobacter baumannii/efeitos dos fármacos , Acinetobacter baumannii/enzimologia , Antibacterianos/farmacologia , Proteínas de Bactérias/genética , Brasil , Tamanho do Genoma , Genoma Bacteriano , Humanos , Tipagem de Sequências Multilocus , Adulto Jovem , beta-Lactamases/genéticaRESUMO
Brevibacillus laterosporus was tested for entomopathogenic activity towards larvae and adults of Chrysomya putoria (Diptera: Calliphoridae) under laboratory conditions. Sublethal effects related to feeding activity or development were observed, including reduction in larval weight gain, probably by inhibition of feeding, and variation in the duration of the developmental stages of the insect. Larval mortality was dose dependent following ingestion. The experiments were performed with newly emerged adults exposed to a sugar based diet containing spore suspensions. Concentrations of 1.13â¯×â¯109â¯CFU/ml caused 70.5% of mortality. The present study highlights the potential of B. laterosporus to control populations of C. putoria, a dipteran of medical-veterinary and sanitary importance, both in larval and adult stages.
Assuntos
Brevibacillus , Dípteros/parasitologia , Larva/parasitologia , Controle Biológico de Vetores/métodos , AnimaisRESUMO
Mycobacterium kansasii is an opportunistic pathogen and one of the most commonly encountered species in individuals with lung disease. We here report the complete genome sequence of 12 clinical isolates of M. kansasii from patients with pulmonary disease in Brazil.
Assuntos
Genoma Bacteriano , Genótipo , Pneumopatias/microbiologia , Infecções por Mycobacterium não Tuberculosas/microbiologia , Mycobacterium kansasii/genética , Brasil , Gráficos por Computador , DNA Bacteriano , Genômica , Humanos , Mycobacterium kansasii/isolamento & purificação , Polimorfismo de Fragmento de RestriçãoRESUMO
Mycobacterium kansasii is an opportunistic pathogen and one of the most commonly encountered species in individuals with lung disease. We here report the complete genome sequence of 12 clinical isolates of M. kansasii from patients with pulmonary disease in Brazil.
Assuntos
DNA Bacteriano , Genoma Bacteriano/genética , Mycobacterium kansasii/genética , Gráficos por ComputadorRESUMO
Abstract Yersinia enterocolitica is a widespread Gram-negative bacterium that causes gastrointestinal disease and other clinical manifestations in humans. Potentially pathogenic Y. enterocolitica has been isolated in Brazil, from human, environmental, food, and animal sources. Herein we report a genome sequence of Y. enterocolitica subsp. palearctica strain YE 19, serotype O:3, biotype 4, sequence type 18, with virulence determinants isolated from human blood in Rio de Janeiro in 2005. The results corroborate other findings that this strain harbors a set of virulence determinants that could play a role in host pathoadaptation and may also justify the successful dissemination of bioserotype 4/O:3 in Brazil. The presence of strains harboring all of these virulence genes in Brazil is a potential threat to young children and immunocompromised individuals, for whom yersiniosis are a significant source of morbidity and mortality. The results of a genomic data analysis will help understand the virulence of Brazilian strains and provide data for Y. enterocolitica studies worldwide.
Assuntos
Humanos , Yersinia enterocolitica/genética , Yersinia enterocolitica/patogenicidade , Genoma Bacteriano/genética , Fatores de Virulência/genética , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Yersinia enterocolitica is a widespread Gram-negative bacterium that causes gastrointestinal disease and other clinical manifestations in humans. Potentially pathogenic Y. enterocolitica has been isolated in Brazil, from human, environmental, food, and animal sources. Herein we report a genome sequence of Y. enterocolitica subsp. palearctica strain YE 19, serotype O:3, biotype 4, sequence type 18, with virulence determinants isolated from human blood in Rio de Janeiro in 2005. The results corroborate other findings that this strain harbors a set of virulence determinants that could play a role in host pathoadaptation and may also justify the successful dissemination of bioserotype 4/O:3 in Brazil. The presence of strains harboring all of these virulence genes in Brazil is a potential threat to young children and immunocompromised individuals, for whom yersiniosis are a significant source of morbidity and mortality. The results of a genomic data analysis will help understand the virulence of Brazilian strains and provide data for Y. enterocolitica studies worldwide.
Assuntos
Genoma Bacteriano/genética , Fatores de Virulência/genética , Yersinia enterocolitica/genética , Yersinia enterocolitica/patogenicidade , Sequenciamento de Nucleotídeos em Larga Escala , HumanosRESUMO
The first plant glycine-rich proteins (GRPs) have been isolated more than 20 years ago based on their specific expression pattern and/or modulation by several biotic and abiotic factors. This superfamily is characterized by the presence of a glycine-rich domain arranged in (Gly)(n)-X repeats. The presence of additional motifs, as well as the nature of the glycine repeats, groups them in different classes. The diversity in structure as well as in expression pattern, modulation and sub-cellular localization have always indicated that these proteins, although classified as members of the same superfamily, would perform different functions in planta. Only now, two decades later, with the first functional characterizations of plant GRPs their involvement in diverse biological and biochemical processes are being uncovered. Here, we review the so far ascribed functions of plant GRPs.
Assuntos
Glicina/metabolismo , Proteínas de Plantas/metabolismo , Motivos de Aminoácidos , Parede Celular/fisiologia , Temperatura Baixa , Flores/fisiologia , Genes de Plantas , Ligantes , Metabolismo dos Lipídeos , Família Multigênica , Pressão Osmótica , Pólen/fisiologia , Proteínas Quinases/metabolismo , Proteínas de Ligação a RNA/metabolismo , Estresse FisiológicoRESUMO
Phospholipases A2 (PLA2) are a family of key enzymes in the metabolism of membrane phospholipids. Several studies reported on increased blood and brain PLA2 activity in schizophrenia, which suggest a disordered phospholipid metabolism in the disease. In addition, a genetic variant of a cytosolic PLA2 gene has been reported to be associated with schizophrenia. These data indicate that variants of PLA2 encoding genes are plausible candidates for increasing the susceptibility for schizophrenia. In this study, we investigated a possible association between PLA2 activity in platelets and a polymorphic site for BanI in the PLA2 (group 4A) gene on chromosome 1q25. Seventy-five schizophrenic patients (DSM-IV) and 68 healthy controls were recruited and the PCR assays were performed. A radioenzymatic assay for the cytosolic PLA2 activity in platelets was used. The allele A2 and the genotype A2A2 were more frequent in schizophrenic patients than in controls (p<0.005 and p<0.05 respectively). When we assorted the subjects according to their genotypes, we found that PLA2 activity was significantly higher in patients with the A2A2 genotype (29.6+/-5.1 pMol/mg protein/min) than in those with the A1A2 (20.8+/-3.6 pMol/mg protein/min, p<0.001) or A1A1 genotype (15.9+/-5.1 pMol/mg protein/min, p<0.001). Also in controls, carriers of the A2 allele (A1A2 and A2A2) had higher PLA2 activity than the A1A1 group (p=0.004 for both). Our data suggest an association between BanI genotype and PLA2G4A activity in platelets and that the presence of the allele A2 may increase risk for schizophrenia through an increment of PLA2 activity.