Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 10 de 10
Filtrar
Mais filtros








Base de dados
Intervalo de ano de publicação
1.
Artigo em Inglês | MEDLINE | ID: mdl-38801454

RESUMO

Silibinin, or silybin, is a polyphenolic flavonoid and the main active component of silymarin, isolated from the seeds of the milk thistle plant (Silybum marianum). It has been shown to have antioxidant, antineoplastic, hepatoprotective, neuroprotective, anti-inflammatory, antimicrobial, and antidiabetic effects. In this systematic review, a literature search was conducted from inception until January 2024 on major electronic databases (PubMed, Scopus, Web of Science, and Google Scholar) to identify studies assessing the effects of silibinin on diabetes and its associated complications in different molecular, cellular, animal, and clinical studies. Silibinin has been shown to improve diabetic conditions through a variety of mechanisms, including reducing insulin resistance (IR), lowering reactive oxygen species (ROS) levels, and affecting glycolysis, gluconeogenesis, and glycogenolysis. Silibinin treatment reduced blood glucose (BG) levels, oxidative stress markers, and inflammatory cytokines while increasing glycosylated hemoglobin (HbA1C) and antioxidative marker levels in various cellular and animal models of diabetes. It also ameliorated levels of triglyceride (TG), cholesterol, low-density lipoprotein (LDL), and high-density lipoprotein (HDL). Furthermore, silibinin has been identified as an effective treatment for diabetic complications, including hepatic damage, endothelial dysfunction, neuropathy, nephropathy, retinopathy, and osteoporosis. The promising anti-inflammatory, antioxidant, antidiabetic, and insulin-sensitizing activities of silibinin were also supported in clinical studies. The administration of silibinin could possess multiple protective impacts in improving DM and its complications. Nevertheless, further well-designed investigations are necessary to better understand its mechanisms.

2.
J Genet ; 1012022.
Artigo em Inglês | MEDLINE | ID: mdl-35652205

RESUMO

Pathogenic variants in MCM2 could result in mild to severe sensorineural hearing loss in the affected individuals (deafness, autosomal dominant 70; DFNA70; OMIM: 616968), an extremely rare autosomal dominant progressive disorder. Here, we report a novel missense variant (NM_004526:c.388C>T, p.R130C; Clinvar: SCV002072508) in MCM2 in an Iranian family identified by whole-exome sequencing and confirmed by Sanger sequencing. The heterozygous variant (NM_004526:c.388C>T, p.R130C) in MCM2 was identified in the proband and his mother. The proband is a nine-year-old male born to nonconsanguineous parents. The proband was characterized by nonsyndromic hearing loss, while his mother showed a mild form of the disorder. This study reports the second disease-causing variant in MCM2 in the world and confirms that hearing loss arising from variants in MCM2 is nonsyndromic. Nevertheless, as was reported in the previous family, phenotype could vary among the patients with the same variant.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Humanos , Masculino , Surdez/genética , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Irã (Geográfico) , Componente 2 do Complexo de Manutenção de Minicromossomo/genética , Mutação
3.
Eur J Med Genet ; 65(8): 104552, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35752288

RESUMO

KY is located on chromosome 3 and encodes a transglutaminase-like protein in the skeletal muscles, namely Kyphoscoliosis Peptidase. KY is primarily involved in the formation and stabilization of neuromuscular intersections making it essential for the development of the musculoskeletal system. Mutations in KY cause Myofibrillar Myopathy-7 (MFM-7) and Hereditary Spastic Paraplegia (HSP). MFM-7 is an early onset muscle disorder with an autosomal recessive inheritance marked by progressive muscle weakness and joint contractures. Herein, we describe an Iranian family with MFM-7 caused by a homozygous novel variant in KY. We identified a homozygous variant (NM_178554.6:c.1247T > A, p. Ile416Asn) in KY in two patients born to consanguineous parents and the same heterozygous mutation in their parent by Whole-Exome Sequencing. The patients manifest muscle weakness, muscle atrophy, mobility restriction, and hyporeflexia. Lastly, we reviewed the phenotype and corresponding genotype of the previously reported cases with pathogenic variants in KY.


Assuntos
Mutação de Sentido Incorreto , Paraplegia Espástica Hereditária , Homozigoto , Humanos , Irã (Geográfico) , Debilidade Muscular , Músculo Esquelético/metabolismo , Mutação , Miopatias Congênitas Estruturais , Linhagem , Peptídeo Hidrolases/genética , Fenótipo
4.
Eur J Med Genet ; 64(8): 104250, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34022416

RESUMO

ST3GAL3 deficiency is an extremely rare autosomal recessive disorder caused by pathogenic mutations in the ST3GAL3 gene. Epilepsy, motor development delay, severe intellectual disability, and behavioral disorders have been reported to be associated with ST3GAL3 deficiency. In the present study, ST3GAL3 deficiency was caused by a homozygous splice-site mutation (NM_174964.4: c.936+1delG) in ST3GAL3. The patient described in this study was clinically similar to previously reported cases; nevertheless, we were able to detect repetitive behavior, previously not reported manifestations.


Assuntos
Epilepsia/genética , Deficiência Intelectual/genética , Fenótipo , Sialiltransferases/genética , Criança , Epilepsia/patologia , Homozigoto , Humanos , Deficiência Intelectual/patologia , Masculino , Movimento , Mutação , Sítios de Splice de RNA , Sialiltransferases/química , Comportamento Estereotipado , Síndrome
5.
Int J Syst Evol Microbiol ; 70(1): 530-536, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31613739

RESUMO

Strain LMG 30378T was isolated from a hydrogen-oxidizing bacteria enrichment reactor inoculated with forest soil. Phylogenetic analysis based on the 16S rRNA gene sequence indicated that this strain belonged to the genus Achromobacter. Multilocus sequence analysis combined with sequence analysis of a 765 bp nrd A gene fragment both showed Achromobacter agilis LMG 3411T and Achromobacter denitrificans LMG 1231T to be the closest-related neighbours to strain LMG 30378T. Genome sequence analysis revealed a draft genome of 6.81 Mb with a G+C content of 67.2 mol%. In silico DNA-DNA hybridization with A. denitrificans LMG 1231T and A. agilis LMG 3411T showed 42.7 and 42.5% similarity, respectively, confirming that strain LMG 30378T represented a novel Achromobacter species. Phenotypic and metabolic characterization revealed acid phosphatase activity and the absence of phosphoamidase activity as distinctive features. The draft genome composes all necessary metabolic components to fix carbon dioxide and to oxidize molecular hydrogen, suggesting that strain LMG 30378T is a key organism in the enrichment reactor. Together, these data demonstrate that strain LMG 30378T represents a novel species of the genus Achromobacter, for which the name Achromobacter veterisilvae sp. nov. is proposed. The type strain is LMG 30378T (=CCUG 71558T).


Assuntos
Achromobacter/classificação , Reatores Biológicos/microbiologia , Filogenia , Microbiologia do Solo , Achromobacter/isolamento & purificação , Técnicas de Tipagem Bacteriana , Composição de Bases , Bélgica , DNA Bacteriano/genética , Ácidos Graxos/química , Florestas , Hidrogênio , Tipagem de Sequências Multilocus , Hibridização de Ácido Nucleico , RNA Ribossômico 16S/genética , Análise de Sequência de DNA
6.
Appl Microbiol Biotechnol ; 103(19): 8241-8253, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31482282

RESUMO

While numerous reports exist on the axenic culturing of different hydrogen-oxidizing bacteria (HOB), knowledge about the enrichment of microbial communities growing on hydrogen, oxygen, and carbon dioxide as sole carbon and energy sources remains negligible. We want to elucidate if in such enrichments, most enriched populations are HOBs or heterotrophic organisms. In the present study, bacteria enriched from a soil sample and grown over 5 transfers using a continuous supply of hydrogen, oxygen, and carbon dioxide to obtain an enriched autotrophic hydrogen-oxidizing microbiome. The success of the enrichment was evaluated by monitoring ammonium consumption and biomass concentration for 120 days. The shift in the microbial composition of the original soil inoculum and all transfers was observed based on 16S rRNA amplicon sequencing. The hydrogen-oxidizing facultative chemolithoautotroph Hydrogenophaga electricum was isolated and found to be one of the abundant species in most transfers. Moreover, Achromobacter was isolated both under heterotrophic and autotrophic conditions, which was characterized as a hydrogen-oxidizing bacterium. The HOB enrichment condition constructed in this study provided an environment for HOB to develop and conquer in all transfers. In conclusion, we showed that enrichments on hydrogen, oxygen, and carbon dioxide as sole carbon and energy sources contain a diverse mixture of HOB and heterotrophs that resulted in a collection of culturable isolates. These isolates can be useful for further investigation for industrial applications.


Assuntos
Bactérias/classificação , Bactérias/metabolismo , Hidrogênio/metabolismo , Microbiologia do Solo , Compostos de Amônio/metabolismo , Bactérias/genética , Técnicas Bacteriológicas , Dióxido de Carbono/metabolismo , Análise por Conglomerados , DNA Bacteriano/química , DNA Bacteriano/genética , DNA Ribossômico/química , DNA Ribossômico/genética , Metagenômica , Oxirredução , Oxigênio/metabolismo , Filogenia , RNA Ribossômico 16S/genética , Análise de Sequência de DNA
7.
Sci Rep ; 8(1): 340, 2018 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-29321640

RESUMO

The effect of initial evenness on the temporal trajectory of synthetic communities in comprehensive, low-volume microcosm studies remains unknown. We used flow cytometric fingerprinting and 16S rRNA gene amplicon sequencing to assess the impact of time on community structure in one hundred synthetic ecosystems of fixed richness but varying initial evenness. Both methodologies uncovered a similar reduction in diversity within synthetic communities of medium and high initial evenness classes. However, the results of amplicon sequencing showed that there were no significant differences between and within the communities in all evenness groups at the end of the experiment. Nevertheless, initial evenness significantly impacted the cell density of the community after five medium transfers. Highly even communities retained the highest cell densities at the end of the experiment. The relative abundances of individual species could be associated to particular evenness groups, suggesting that their presence was dependent on the initial evenness of the synthetic community. Our results reveal that using synthetic communities for testing ecological hypotheses requires prior assessment of initial evenness, as it impacts temporal dynamics.


Assuntos
Biodiversidade , Ecossistema , Microbiota , Metagenoma , Metagenômica/métodos , Modelos Teóricos , Fenótipo
8.
Genome Announc ; 4(4)2016 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-27540061

RESUMO

We report here the draft genome sequence of Aeromonas sp. strain EERV15 isolated from sand filter. The organism most closely related to Aeromonas sp. EERV15 is Aeromonas veronii B565, with an average 83% amino acid sequence similarity of putatively encoded protein open reading frames.

9.
Genome Announc ; 3(6)2015 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-26586902

RESUMO

We report the draft genome sequence of the Acidovorax caeni type strain R-24608 that was isolated from activated sludge of an aerobic-anaerobic wastewater treatment plant. The closest strain to Acidovorax caeni strain R-24608 is Acidovorax sp. strain MR-S7 with a 55.4% (amino-acid sequence) open reading frames (ORFs) average similarity.

10.
Genome Announc ; 3(3)2015 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-25999565

RESUMO

Here, we report the draft genome sequence of Rhodococcus sp. strain 311R, which was isolated from a site contaminated with alkanes and aromatic compounds. Strain 311R shares 90% of the genome of Rhodococcus erythropolis SK121, which is the closest related bacteria.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA