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1.
Foods ; 13(13)2024 Jun 27.
Artículo en Inglés | MEDLINE | ID: mdl-38998555

RESUMEN

Due to the growing demand for human-edible protein sources, microalgae are recognized as an economically viable alternative source of proteins. The investigation into the structural characteristics and functional properties of microalgin is highly significant for its potential application in the food industry as an alternative source of protein. In this research, we extracted protein from Euglena gracilis by using alkaline extraction and acid precipitation and investigated its structural characteristics and functional properties in different acidic and alkaline environments. The molecular weight distribution of Euglena gracilis protein (EGP), as revealed by the size exclusion chromatography results, ranges from 152 to 5.7 kDa. EGP was found to be rich in hydrophobic amino acids and essential amino acids. Fourier infrared analysis revealed that EGP exhibited higher α-helix structure content and lower ß-sheet structure content in alkaline environments compared with acidic ones. EGP exhibited higher foaming properties, emulsifying activity index, solubility, free sulfhydryl, and total sulfhydryl in pH environments far from its isoelectric point, and lower fluorescence intensity (2325 A.U.), lower surface hydrophobicity, larger average particle size (25.13 µm), higher emulsifying stability index, and water-holding capacity in pH environments near its isoelectric point. In addition, X-ray diffraction (XRD) patterns indicated that different acidic and alkaline environments lead to reductions in the crystal size and crystallinity of EGP. EGP exhibited high denaturation temperature (Td; 99.32 °C) and high enthalpy (ΔH; 146.33 J/g) at pH 11.0, as shown by the differential scanning calorimetry (DSC) results. The findings from our studies on EGP in different acidic and alkaline environments provide a data basis for its potential commercial utilization as a food ingredient in products such as emulsions, gels, and foams.

2.
Molecules ; 29(13)2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38999090

RESUMEN

Phaeodactylum tricornutum is identified by its capacity for rapid growth, reproduction, and in vitro cultivation, as well as the presence of a range of high-value active compounds, including proteins, with potential food applications. The objective of this study was to investigate the effects of pH shift treatments (pH of 3, 5, 7, 9, and 11) on the structural and functional properties of the Phaeodactylum tricornutum protein (PTP). The molecular weight of the PTP was predominantly distributed within the following ranges: below 5 kDa, 5-100 kDa, and above 100 kDa. Compared to the acidic environment, the PTP demonstrated higher solubility and greater free sulfhydryl group content in the alkaline environment. Additionally, PTP had a smaller particle size and higher thermal stability in alkaline environments. The PTP exhibited superior foaming ability (135%), emulsification activity index (3.72 m2/g), and emulsion stability index (137.71 min) in alkaline environments. The results of this investigation provide a foundation for the future development and application of the PTP in the food industry.


Asunto(s)
Diatomeas , Concentración de Iones de Hidrógeno , Diatomeas/química , Solubilidad , Peso Molecular , Tamaño de la Partícula
3.
Biol Psychiatry ; 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38942348

RESUMEN

BACKGROUND: Mosaic chromosomal alterations are implicated in neuropsychiatric disorders, but the contribution to schizophrenia (SCZ) risk for somatic copy number variations (sCNVs) emerging in early developmental stages has not been fully established. METHODS: We analyzed blood-derived genotype arrays from 9715 patients with SCZ and 28,822 control participants of Chinese descent using a computational tool (MoChA) based on long-range chromosomal information to detect mosaic chromosomal alterations. We focused on probable early developmental sCNVs through stringent filtering. We assessed the burden of sCNVs across varying cell fraction cutoffs, as well as the frequency with which genes were involved in sCNVs. We integrated this data with the PGC (Psychiatric Genomics Consortium) dataset, which comprises 12,834 SCZ cases and 11,648 controls of European descent, and complemented it with genotyping data from postmortem brain tissue of 936 participants (449 cases and 487 controls). RESULTS: Patients with SCZ had a significantly higher somatic losses detection rate than control participants (1.00% vs. 0.52%; odds ratio = 1.91; 95% CI, 1.47-2.49; two-sided Fisher's exact test, p = 1.49 × 10-6). Further analysis indicated that the odds ratios escalated proportionately (from 1.91 to 2.78) with the increment in cell fraction cutoffs. Recurrent sCNVs associated with SCZ (odds ratio > 8; Fisher's exact test, p < .05) were identified, including notable regions at 10q21.1 (ZWINT), 3q26.1 (SLITRK3), 1q31.1 (BRINP3) and 12q21.31-21.32 (MGAT4C and NTS) in the Chinese cohort, and some regions were validated with PGC data. Cross-tissue validation pinpointed somatic losses at loci like 1p35.3-35.2 and 19p13.3-13.2. CONCLUSIONS: The study highlights the significant impact of mosaic chromosomal alterations on SCZ, suggesting their pivotal role in the disorder's genetic etiology.

4.
Sleep Med ; 119: 201-209, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38703603

RESUMEN

BACKGROUND: There is a profound connection between abnormal sleep patterns and brain disorders, suggesting a shared influential association. However, the shared genetic basis and potential causal relationships between sleep-related traits and brain disorders are yet to be fully elucidated. METHODS: Utilizing linkage disequilibrium score regression (LDSC) and bidirectional two-sample univariable Mendelian Randomization (UVMR) analyses with large-scale GWAS datasets, we investigated the genetic correlations and causal associations across six sleep traits and 24 prevalent brain disorders. Additionally, a multivariable Mendelian Randomization (MVMR) analysis evaluated the cumulative effects of various sleep traits on each brain disorder, complemented by genetic loci characterization to pinpoint pertinent genes and pathways. RESULTS: LDSC analysis identified significant genetic correlations in 66 out of 144 (45.8 %) pairs between sleep-related traits and brain disorders, with the most pronounced correlations observed in psychiatric disorders (66 %, 48/72). UVMR analysis identified 29 causal relationships (FDR<0.05) between sleep traits and brain disorders, with 19 associations newly discovered according to our knowledge. Notably, major depression, attention-deficit/hyperactivity disorder, bipolar disorder, cannabis use disorder, and anorexia nervosa showed bidirectional causal relations with sleep traits, especially insomnia's marked influence on major depression (IVW beta 0.468, FDR = 5.24E-09). MVMR analysis revealed a nuanced interplay among various sleep traits and their impact on brain disorders. Genetic loci characterization underscored potential genes, such as HOXB2, while further enrichment analyses illuminated the importance of synaptic processes in these relationships. CONCLUSIONS: This study provides compelling evidence for the causal relationships and shared genetic backgrounds between common sleep-related traits and brain disorders.


Asunto(s)
Encefalopatías , Estudio de Asociación del Genoma Completo , Desequilibrio de Ligamiento , Análisis de la Aleatorización Mendeliana , Humanos , Encefalopatías/genética , Trastornos del Sueño-Vigilia/genética , Predisposición Genética a la Enfermedad/genética
5.
J Sci Food Agric ; 104(12): 7335-7346, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38651728

RESUMEN

BACKGROUND: The present study investigated the structure, functional and physicochemical properties of lotus seed protein (LSP) under different pH environments. The structures of LSP were characterized by sodium dodecyl sulfate-polyacrylamide gel electrophoresis, Fourier transform infrared spectroscopy (FTIR), zeta potential, particle size distributions, free sulfhydryl and rheological properties. The functional and physicochemical properties of LSP were characterized by color, foaming property, emulsification property, solubility, oil holding capacity, water holding capacity, differential scanning calorimetry analysis and surface hydrophobicity. RESULTS: LSP was mainly composed of eight subunits (18, 25, 31, 47, 51, 56, 65 and 151 kDa), in which the richest band was 25 kDa. FTIR results showed that LSP had high total contents of α-helix and ß-sheet (44.81-46.85%) in acidic environments. Meanwhile, there was more ß-structure and random structure in neutral and alkaline environments (pH 7.0 and 9.0). At pH 5.0, LSP had large particle size (1576.98 nm), high emulsion stability index (91.43 min), foaming stability (75.69%) and water holding capacity (2.21 g g-1), but low solubility (35.98%), free sulfhydryl content (1.95 µmol g-1) and surface hydrophobicity (780). DSC analysis showed the denaturation temperatures (82.23 °C) of LSP at pH 5.0 was higher than those (80.10, 80.52 and 71.82 °C) at pH 3.0, 7.0 and 9.0. The analysis of rheological properties showed that LSP gel had high stability and great strength in an alkaline environment. CONCLUSION: The findings of the present study are anticipated to serve as a valuable reference for the implementation of LSP in the food industry. © 2024 Society of Chemical Industry.


Asunto(s)
Interacciones Hidrofóbicas e Hidrofílicas , Lotus , Tamaño de la Partícula , Proteínas de Plantas , Semillas , Solubilidad , Semillas/química , Concentración de Iones de Hidrógeno , Lotus/química , Proteínas de Plantas/química , Reología , Emulsiones/química , Espectroscopía Infrarroja por Transformada de Fourier , Estructura Secundaria de Proteína
6.
J Sci Food Agric ; 104(6): 3665-3675, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38158728

RESUMEN

BACKGROUND: The limited physicochemical properties (such as low foaming and emulsifying capacity) of mung bean protein hydrolysate restrict its application in the food industry. Ultrasound treatment could change the structures of protein hydrolysate to accordingly affect its physicochemical properties. The aim of this study was to investigate the effects of ultrasound treatment on the structural and physicochemical properties of mung bean protein hydrolysate of protamex (MBHP). The structural characteristics of MBHP were evaluated using tricine sodium dodecylsulfate-polyacrylamide gel electrophoresis, laser scattering, fluorescence spectrometry, etc. Solubility, fat absorption capacity and foaming, emulsifying and thermal properties were determined to characterize the physicochemical properties of MBHP. RESULTS: MBHP and ultrasonicated-MBHPs (UT-MBHPs) all contained five main bands of 25.8, 12.1, 5.6, 4.8 and 3.9 kDa, illustrating that ultrasound did not change the subunits of MBHP. Ultrasound treatment increased the contents of α-helix, ß-sheet and random coil and enhanced the intrinsic fluorescence intensity of MBHP, but decreased the content of ß-turn, which demonstrated that ultrasound modified the secondary and tertiary structures of MBHP. UT-MBHPs exhibited higher solubility, foaming capacity and emulsifying properties than MBHP, among which MBHP-330 W had the highest solubility (97.32%), foaming capacity (200%), emulsification activity index (306.96 m2 g-1 ) and emulsion stability index (94.80%) at pH 9.0. CONCLUSION: Ultrasound treatment enhanced the physicochemical properties of MBHP, which could broaden its application as a vital ingredient in the food industry. © 2023 Society of Chemical Industry.


Asunto(s)
Fabaceae , Vigna , Vigna/química , Hidrolisados de Proteína/química , Proteínas de Plantas/química , Solubilidad
7.
Foods ; 12(18)2023 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-37761143

RESUMEN

Due to the increase in population and the deficiency of land resources, the cost of raising livestock is gradually increasing. Plant-based meat analogues (PBMAs) are considered excellent substitutes for animal meat. Our research investigated the effect of Haematococcus pluvialis (HP) on gluten-based soybean and wheat PBMA with contents of 1%, 3%, 5%, and 7%. Compared with the control group, HP significantly improved the color of the extrudates, showed visual characteristics similar to red meat, and achieved a soft texture and apparent rheological properties. The 7% HP had negative effects on the organizational degree and viscosity. In addition, the E-nose indicated that the different contents of HP changed the flavor of the extrudates. The extrudates with 3% and 5% HP were most similar to each other among all of the extrudates for volatile compounds, and the extrudates with 1% HP and 7% HP had significantly different flavors compared to the control group. Furthermore, 20 different volatile compounds were compared according to their retention indices and retention areas. The results showed that the proportions of alcohol, ester, terpenes, acid, and furan were increased. When the threshold was referenced, HP was considered to provide PBMAs with grassy and healing grain flavor properties. Therefore, the results proved that the addition of HP can improve PBMAs sensory properties.

8.
Biomed Pharmacother ; 166: 115069, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37633052

RESUMEN

Lung injury and pulmonary fibrosis contribute to morbidity and mortality, and, in particular, are characterized as leading cause on confirmed COVID-19 death. To date, efficient therapeutic approach for such lung diseases is lacking. N-Acetylglucosamine (NAG), an acetylated derivative of glucosamine, has been proposed as a potential protector of lung function in several types of lung diseases. The mechanism by which NAG protects against lung injury, however, remains unclear. Here, we show that NAG treatment improves pulmonary function in bleomycin (BLM)-induced lung injury model measured by flexiVent system. At early phase of lung injury, NAG treatment results in silenced immune response by targeting ARG1+ macrophages activation, and, consequently, blocks KRT8+ transitional stem cell in the alveolar region to stimulate PDGF Rß+ fibroblasts hyperproliferation, thereby attenuating the pulmonary fibrosis. This combinational depression of immune response and extracellular matrix deposition within the lung mitigates lung injury and pulmonary fibrosis induced by BLM. Our findings provide novel insight into the protective role of NAG in lung injury.


Asunto(s)
COVID-19 , Lesión Pulmonar , Fibrosis Pulmonar , Humanos , Fibrosis Pulmonar/inducido químicamente , Fibrosis Pulmonar/tratamiento farmacológico , Fibrosis Pulmonar/prevención & control , Lesión Pulmonar/inducido químicamente , Lesión Pulmonar/tratamiento farmacológico , Acetilglucosamina , Bleomicina/toxicidad
9.
Ren Fail ; 45(1): 2238831, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37482748

RESUMEN

Acute kidney injury (AKI) and renal interstitial fibrosis are global clinical syndromes associated with high morbidity and mortality. Renal ischemia-reperfusion (I/R) injury, which commonly occurs during surgery, is one of the major causes of AKI. Nevertheless, an efficient therapeutic approach for AKI and the development of renal interstitial fibrosis is still lacking due to its elusive pathogenetic mechanism. Here, we showed that chitosan oligosaccharide (COS), a natural oligomer polysaccharide degraded from chitosan, significantly attenuates I/R-induced AKI and maintains glomerular filtration function by inhibiting oxidative stress, mitochondrial damage, and excessive endoplasmic reticulum stress both in vitro and in vivo. In addition, long-term administration of COS can also attenuate the proliferation of myofibroblasts, mitigate extra cellular matrix deposition, and thus inhibit the transition of AKI to chronic kidney disease through participating in metabolic and redox biological processes. Our findings provide novel insights into the protective role of COS against acute kidney injury.


Asunto(s)
Lesión Renal Aguda , Quitosano , Daño por Reperfusión , Humanos , Quitosano/farmacología , Quitosano/uso terapéutico , Quitosano/metabolismo , Lesión Renal Aguda/tratamiento farmacológico , Lesión Renal Aguda/etiología , Lesión Renal Aguda/prevención & control , Riñón/patología , Isquemia , Daño por Reperfusión/complicaciones , Daño por Reperfusión/tratamiento farmacológico , Daño por Reperfusión/metabolismo , Reperfusión/efectos adversos , Fibrosis , Oligosacáridos/farmacología , Oligosacáridos/uso terapéutico , Oligosacáridos/metabolismo
10.
BMC Plant Biol ; 23(1): 318, 2023 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-37316771

RESUMEN

BACKGROUND: The genus Rosa (Rosaceae) contains approximately 200 species, most of which have high ecological and economic values. Chloroplast genome sequences are important for studying species differentiation, phylogeny, and RNA editing. RESULTS: In this study, the chloroplast genomes of three Rosa species, Rosa hybrida, Rosa acicularis, and Rosa rubiginosa, were assembled and compared with other reported Rosa chloroplast genomes. To investigate the RNA editing sites in R. hybrida (commercial rose cultivar), we mapped RNA-sequencing data to the chloroplast genome and analyzed their post-transcriptional features. Rosa chloroplast genomes presented a quadripartite structure and had highly conserved gene order and gene content. We identified four mutation hotspots (ycf3-trnS, trnT-trnL, psbE-petL, and ycf1) as candidate molecular markers for differentiation in the Rosa species. Additionally, 22 chloroplast genomic fragments with a total length of 6,192 bp and > 90% sequence similarity with their counterparts were identified in the mitochondrial genome, representing 3.96% of the chloroplast genome. Phylogenetic analysis including all sections and all subgenera revealed that the earliest divergence in the chloroplast phylogeny roughly distinguished species of sections Pimpinellifoliae and Rosa and subgenera Hulthemia. Moreover, DNA- and RNA-sequencing data revealed 19 RNA editing sites, including three synonymous and 16 nonsynonymous, in the chloroplast genome of R. hybrida that were distributed among 13 genes. CONCLUSIONS: The genome structure and gene content of Rosa chloroplast genomes are similar across various species. Phylogenetic analysis based on the Rosa chloroplast genomes has high resolution. Additionally, a total of 19 RNA editing sites were validated by RNA-Seq mapping in R. hybrida. The results provide valuable information for RNA editing and evolutionary studies of Rosa and a basis for further studies on genomic breeding of Rosa species.


Asunto(s)
Genoma del Cloroplasto , Rosa , Rosa/genética , Genoma del Cloroplasto/genética , Filogenia , Edición de ARN/genética , Fitomejoramiento , ARN
11.
Front Genet ; 14: 1124745, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37139236

RESUMEN

Background: Primary hyperoxaluria (PH) is a rare genetic disorder characterized by excessive accumulation of oxalate in plasma and urine, resulting in various phenotypes due to allelic and clinical heterogeneity. This study aimed to analyze the genotype of 21 Chinese patients with primary hyperoxaluria (PH) and explore their correlations between genotype and phenotype. Methods: Combined with clinical phenotypic and genetic analysis, we identified 21 PH patients from highly suspected Chinese patients. The clinical, biochemical, and genetic data of the 21 patients were subsequently reviewed. Results: We reported 21 cases of PH in China, including 12 cases of PH1, 3 cases of PH2 and 6 cases of PH3, and identified 2 novel variants (c.632T > G and c.823_824del) in AGXT gene and 2 novel variants (c.258_272del and c.866-34_866-8del) in GRHPR gene, respectively. A possible PH3 hotspot variant c.769T > G was identified for the first time. In addition, patients with PH1 showed higher levels of creatinine and lower eGFR than those with PH2 and PH3. In PH1, patients with severe variants in both alleles had significantly higher creatinine and lower eGFR than other patients. Delayed diagnosis still existed in some late-onset patients. Of all cases, 6 had reached to end-stage kidney disease (ESKD) at diagnosis with systemic oxalosis. Five patients were on dialysis and three had undergone kidney or liver transplants. Notably, four patients showed a favorable therapeutic response to vitamin B6, and c.823_824dup and c.145A > C may be identified as potentially vitamin B6-sensitive genotypes. Conclusion: In brief, our study identified 4 novel variants and extended the variant spectrum of PH in the Chinese population. The clinical phenotype was characterized by large heterogeneity, which may be determined by genotype and a variety of other factors. We first reported two variants that may be sensitive to vitamin B6 therapy in Chinese population, providing valuable references for clinical treatment. In addition, early screening and prognosis of PH should be given more attention. We propose to establish a large-scale registration system for rare genetic diseases in China and call for more attention on rare kidney genetic diseases.

12.
J Sci Food Agric ; 103(11): 5432-5441, 2023 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-37038905

RESUMEN

BACKGROUND: In this study, the fermentation conditions of peony seed soy sauce (PSSS) koji were optimized by response surface method, and the quality components and antioxidant activity of PSSS were investigated at different low-salt solid-state fermentation stages. RESULTS: Results of response surface method showed that the optimal fermentation conditions were 460.6 g kg-1 water content, 48.6 h culture time, 31.5 °C culture temperature and ratio 2.1:1 (w/w) of peony seed meal:wheat bran, with the highest neutral protease activity (2193.78 U g-1 ) of PSSS koji. PSSS had the highest amino acid nitrogen (7.69 g L-1 ), salt-free soluble solids (185.26 g L-1 ), total free amino acids (49.03 g L-1 ), essential free amino acids (19.58 g L-1 ) and umami free amino acids (16.64 g L-1 ) at 20 days of fermentation. The highest total phenolics were 5.414 g gallic acid equivalent L-1 and total flavonoids 0.617 g rutin equivalent L-1 , as well as the highest DPPH radical scavenging activity (86.19%) and reducing power (0.8802, A700 ) of PSSS fermented at 30 days. Sensory evaluation showed that fermentation of 20 days and 25 days could produce a better taste and aroma of PSSS than 15 days and 30 days. CONCLUSION: PSSS had the highest quality components in the middle of fermentation (20 days) and the highest antioxidant activity in the late fermentation period (30 days). These results demonstrated that peony seed meal could be used to produce high-quality soy sauce with high antioxidant activity. © 2023 Society of Chemical Industry.


Asunto(s)
Paeonia , Alimentos de Soja , Fermentación , Antioxidantes , Gusto , Aminoácidos , Aminoácidos Esenciales
13.
Neuropathology ; 43(1): 100-103, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35989547

RESUMEN

Primary central nervous system T-cell lymphoma (T-PCNSL) is a rare neoplasm, and its underlying genetic features are poorly understood. Herein, we present the case of a 64-year-old man with T-PCNSL who presented with left-side limb weakness. Brain magnetic resonance imaging revealed a right parietal space-occupying lesion. Immunohistochemically, the tumor was positive for CD3, CD4, CD5, CD8, and CD56, and the Ki-67 labeling index was approximately 20%. These pathological features are consistent with those of T-cell lymphoma. Whole exome sequencing was performed, and we found a variant in the ACSS3 gene that could be related to disease pathogenesis. Our findings may help advance our understanding of the molecular pathogenesis of T-PCNSL. Further molecular analysis of such cases could help to improve adjuvant molecular diagnostic methods and targeted therapies for T-PCNSL.


Asunto(s)
Neoplasias del Sistema Nervioso Central , Linfoma de Células T , Masculino , Humanos , Persona de Mediana Edad , Secuenciación del Exoma , Neoplasias del Sistema Nervioso Central/patología , Linfoma de Células T/genética , Encéfalo/patología , Genómica
14.
Food Funct ; 13(24): 13028-13039, 2022 Dec 13.
Artículo en Inglés | MEDLINE | ID: mdl-36449017

RESUMEN

Toxicology studies provide a reliable dose range for the use of compounds. Zebrafish show unique advantages in toxicology research. Cinnamaldehyde (Cin) is one of the main active compounds isolated from Cinnamon trees and other species of the genus Cinnamomum. In this study, we investigated the developmental neurotoxicity of cinnamaldehyde in zebrafish and preliminarily explored its underlying mechanism. Cinnamaldehyde causes developmental neurotoxicity in zebrafish, as evidenced by the damage to ventricular structures, eye malformations, shortened body length, trunk curvature, decreased neuronal fluorescence, and pericardial oedema. Moreover, it can induce abnormal behaviour and gene expression in zebrafish. After treatment with the oxidative stress inhibitor astaxanthin, the behaviour and abnormal gene expression were reversed. All of these data demonstrated that the developmental neurotoxicity of cinnamaldehyde might be attributed to oxidative stress. In addition, this study also confirmed that zebrafish is a reliable model for toxicity studies.


Asunto(s)
Síndromes de Neurotoxicidad , Pez Cebra , Animales , Pez Cebra/metabolismo , Síndromes de Neurotoxicidad/genética , Estrés Oxidativo , Acroleína/farmacología
15.
Clin Case Rep ; 10(11): e6561, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36381051

RESUMEN

We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will help to improve awareness and diagnosability for this disease.

16.
Front Genet ; 13: 961384, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36092934

RESUMEN

Background: Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes. There is growing evidence that many exonic mutations can affect the pre-mRNA normal splicing and induce exon skipping by altering various splicing regulatory signals. Therefore, the aim of this study was to gain new insights into the consequences of exonic mutations associated with BS on pre-mRNA splicing. Methods: We analyzed all the missense, nonsense and synonymous variants described in six pathogenic genes by bioinformatics programs and identified candidate mutations that may promote exon skipping through a minigene system. Results: Results of the study showed that 12 of 14 candidate variants distributed in SLC12A1 (c.728G>A, C.735C>G, c.904C>T, c.905G>A, c.1304C>T, c.1493C>T, c.2221A>T) and CLCNKB (c.226C>T, c.228A>C, c.229G>A, c.229G>C, c.1979C>A) were identified to induce splicing alterations. These variants may not only disrupt exonic splicing enhancers (ESEs) but also generate new exonic splicing silencers (ESSs), or disturb the classic splicing sites. Conclusion: To our knowledge, this is a comprehensive study regarding alterations in pre-mRNA of exonic variants in BS pathogenic genes. Our results reinforce the necessity of assessing the consequences of exonic variants at the mRNA level.

17.
Psychiatr Genet ; 32(5): 188-193, 2022 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-36125369

RESUMEN

BACKGROUND: Schizophrenia is a chronic brain disorder. Previously, the Schizophrenia Exome Sequencing Meta-analysis consortium identified 10 highest risk genes related to schizophrenia. This study aimed to analyze the relationship between the 10 highest risk genes identified by the SCHEMA and schizophrenia in a Chinese population. METHODS: A total of 225 variants in 10 genes were screened in a Chinese population of 6836 using a customized array. All variants were annotated through the Variant Effect Predictor tool, and the functional impacts of missense variants were assessed based on sorting intolerant from tolerant and PolyPhen-2 scores. The SHEsisPlus tool was used to analyze the association between risk genes and schizophrenia at the locus and gene levels. RESULTS: At the locus level, no missense variants significantly related to schizophrenia were found, but we detected three missense variants that appeared only in cases, including TRIO p. Arg1185Gln, RB1CC1 p. Arg1514Cys, and HERC1 p. Val4517Leu. At the gene level, five genes (TRIO, RB1CC1, HERC1, GRIN2A, and CACAN1G) with more than one variant analyzed were kept for the gene-level association analysis. Only the association between RB1CC1 and schizophrenia reached a significant level (OR = 1.634; 95% CI, 1.062-2.516; P = 0.025). CONCLUSION: In this study, we determined that RB1CC1 might be a risk gene for schizophrenia in the Chinese population. Our results provide new evidence for recognizing the correlation of these risk genes with the Chinese schizophrenia population.


Asunto(s)
Esquizofrenia , Pueblo Asiatico/genética , China , Predisposición Genética a la Enfermedad , Humanos , Polimorfismo de Nucleótido Simple/genética , Esquizofrenia/genética
18.
Int J Anal Chem ; 2022: 7811014, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35966503

RESUMEN

Euglena gracilis paramylon (EGP) is a polymeric polysaccharide composed of linear ß-1,3 glucan. The water insolubility of EGP severely limits its application. This work aimed to improve the functional characteristics of EGP by hydrogen peroxide (H2O2) degradation and carboxymethylated modification. The results showed that the crystallinity of EGP degraded by H2O2 and carboxymethylated modification decreased by 14% and 46%, and the thermal degradation temperature was significantly descending in a crystallinity-dependent manner. In addition, the results showed that H2O2 degradation and carboxymethylation significantly improved the adsorption capacity of EGP for oil, dyes, and metal ions, and their water solubility increased by 9% and 85%. This result will provide a valuable theoretical basis for the development and utilization of EGP.

19.
Ren Fail ; 44(1): 1236-1242, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35912916

RESUMEN

The aim of this research was to examine the clinical characteristics of acute kidney injury (AKI) in primary nephrotic syndrome (NS) and discuss the relationship between serum lipids and AKI. A total of 1028 patients diagnosed with primary NS with renal biopsy results were enrolled in this study. The patients were divided into AKI (n = 81) and non-AKI (n = 947) groups, and their characteristics were compared using a propensity score analysis for the best matching. Serum free fatty acid (FFA) was an independent predictor for AKI in the postmatch samples (p = 0.011). No significant difference in FFA levels was observed among AKI stages or different pathological types in the AKI and non-AKI groups. The AUC (area under the ROC curve) was 0.63 for FFA levels to distinguish AKI. In primary NS, elevated FFA levels tend to be related to a high risk of AKI. FFAs have diagnostic value and may serve as biomarkers for AKI in NS.


Asunto(s)
Lesión Renal Aguda , Síndrome Nefrótico , Lesión Renal Aguda/diagnóstico , Lesión Renal Aguda/etiología , Lesión Renal Aguda/patología , Biomarcadores , Ácidos Grasos no Esterificados , Humanos , Síndrome Nefrótico/complicaciones , Síndrome Nefrótico/diagnóstico , Síndrome Nefrótico/patología , Curva ROC
20.
Polymers (Basel) ; 14(15)2022 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-35893986

RESUMEN

Paramylon from Euglena gracilis (EGP) is a polymeric polysaccharide composed of linear ß-1,3 glucan. EGP has been proved to have antibacterial activity, but its effect is weak due to its water insolubility and high crystallinity. In order to change this deficiency, this experiment carried out carboxymethylated modification of EGP. Three carboxymethylated derivatives, C-EGP1, C-EGP2, and C-EGP3, with a degree of substitution (DS) of 0.14, 0.55, and 0.78, respectively, were synthesized by varying reaction conditions, such as the mass of chloroacetic acid and temperature. Fourier transform infrared spectroscopy (FTIR), gel permeation chromatography (GPC), and nuclear magnetic resonance (NMR) analysis confirmed the success of the carboxymethylated modification. The Congo red (CR) experiment, scanning electron microscopy (SEM), X-ray diffraction (XRD), and thermogravimetry (TG) were used to study the conformation, surface morphology, crystalline nature, and thermostability of the carboxymethylated EGP. The results showed that carboxymethylation did not change the triple helix structure of the EGP, but that the fundamental particles' surface morphology was destroyed, and the crystallization area and thermal stability decreased obviously. In addition, the water solubility test and antibacterial experiment showed that the water solubility and antibacterial activity of the EGP after carboxymethylation were obviously improved, and that the water solubility of C-EGP1, C-EGP2, and C-EGP3 increased by 53.31%, 75.52%, and 80.96% respectively. The antibacterial test indicated that C-EGP3 had the best effect on Escherichia coli (E. coli) and Staphylococcus aureus (S. aureus), with minimum inhibitory concentration (MIC) values of 12.50 mg/mL and 6.25 mg/mL. The diameters of the inhibition zone of C-EGP3 on E. coli and S. aureus were 11.24 ± 0.15 mm and 12.05 ± 0.09 mm, and the antibacterial rate increased by 41.33% and 43.67%.

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