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1.
Environ Res ; 258: 119409, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-38871272

RESUMEN

Meropenem is a potent carbapenem antibiotic frequently used in medical settings. Several studies have confirmed the pervasive presence of these antibiotics in wastewater treatment plants and aquatic environments. However, the effects of these substances on non-target organisms, such as plants, have not been adequately monitored. Thus, this study aimed to assess the short-term impact of meropenem on the growth, photosynthesis, chlorophyll content, and enzyme activity of the macrophyte plant Lemna minor. The methods involved exposing the plant to meropenem under controlled conditions and assessing physiological and biochemical parameters to determine the impact on photosynthetic activity and oxidative stress. These analyses included growth rate, antioxidant enzyme activity, and photosynthetic capacity. The findings suggest that the growth rate of Lemna minor remained unaffected by meropenem at concentrations <200000 µgL-1. However, plants exposed to concentrations >20 µgL-1showed physiological alterations, such as decreased net photosynthesis rate (17%) and chlorophyll concentration (57%), compared to the control group. For acute toxicity assays, the calculated EC50 7-day and EC20 7-day were 1135 µgL-1and 33 µgL-1, respectively. In addition, in most treatments tested, meropenem caused an increase in the superoxide dismutase (SOD), catalase (CAT) and ascorbate peroxidase (APX) activity as a defense mechanism against oxidative stress. Our results suggest that meropenem affects photosynthetic processes and induces oxidative stress in the macrophyte plant Lemna minor. Further studies are needed to assess the physiological and metabolic interactions between antibiotics and primary producers at different long-term trophic levels.


Asunto(s)
Antibacterianos , Araceae , Meropenem , Estrés Oxidativo , Fotosíntesis , Fotosíntesis/efectos de los fármacos , Estrés Oxidativo/efectos de los fármacos , Araceae/efectos de los fármacos , Araceae/crecimiento & desarrollo , Antibacterianos/toxicidad , Contaminantes Químicos del Agua/toxicidad , Clorofila/metabolismo
2.
Mov Disord ; 38(9): 1625-1635, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37469269

RESUMEN

BACKGROUND: Sex differences in Parkinson's disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear. OBJECTIVE: The objective of this study was to perform the first X-chromosome-wide association study for PD risk in a Latin American cohort. METHODS: We used data from three admixed cohorts: (1) Latin American Research consortium on the Genetics of Parkinson's Disease (n = 1504) as discover cohort, and (2) Latino cohort from International Parkinson Disease Genomics Consortium (n = 155) and (3) Bambui Aging cohort (n = 1442) as replication cohorts. We also developed an X-chromosome framework specifically designed for admixed populations. RESULTS: We identified eight linkage disequilibrium regions associated with PD. We replicated one of these regions (top variant rs525496; discovery odds ratio [95% confidence interval]: 0.60 [0.478-0.77], P = 3.13 × 10-5 replication odds ratio: 0.60 [0.37-0.98], P = 0.04). rs5525496 is associated with multiple expression quantitative trait loci in brain and non-brain tissues, including RAB9B, H2BFM, TSMB15B, and GLRA4, but colocalization analysis suggests that rs5525496 may not mediate risk by expression of these genes. We also replicated a previous X-chromosome-wide association study finding (rs28602900), showing that this variant is associated with PD in non-European populations. CONCLUSIONS: Our results reinforce the importance of including X-chromosome and diverse populations in genetic studies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Cromosomas Humanos X , Enfermedad de Parkinson , Femenino , Humanos , Masculino , Estudio de Asociación del Genoma Completo , Hispánicos o Latinos , América Latina , Enfermedad de Parkinson/genética , Factores Sexuales , Cromosomas Humanos X/genética , Desequilibrio de Ligamiento/genética
3.
Ann Neurol ; 90(3): 353-365, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34227697

RESUMEN

OBJECTIVE: This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, and to increase the diversity in PD genome-wide association (GWAS) data. METHODS: We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p-value <1 × 10-5 were tested in a replication cohort of 1,234 self-reported Latino PD cases and 439,522 Latino controls from 23andMe, Inc. We also performed an admixture mapping analysis where local ancestry blocks were tested for association with PD status. RESULTS: One locus, SNCA, achieved genome-wide significance (p-value <5 × 10-8 ); rs356182 achieved genome-wide significance in both the discovery and the replication cohorts (discovery, G allele: 1.58 OR, 95% CI 1.35-1.86, p-value 2.48 × 10-8 ; 23andMe, G allele: 1.26 OR, 95% CI 1.16-1.37, p-value 4.55 × 10-8 ). In our admixture mapping analysis, a locus on chromosome 14, containing the gene STXBP6, achieved significance in a joint test of ancestries and in the Native American single-ancestry test (p-value <5 × 10-5 ). A second locus on chromosome 6, containing the gene RPS6KA2, achieved significance in the African single-ancestry test (p-value <5 × 10-5 ). INTERPRETATION: This study demonstrated the importance of the SNCA locus for the etiology of PD in Latinos. By leveraging the demographic history of our cohort via admixture mapping, we identified two potential PD risk loci that merit further study. ANN NEUROL 2021;90:353-365.


Asunto(s)
Sitios Genéticos/genética , Variación Genética/genética , Estudio de Asociación del Genoma Completo/métodos , Hispánicos o Latinos/genética , Enfermedad de Parkinson/etnología , Enfermedad de Parkinson/genética , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Polimorfismo de Nucleótido Simple/genética , América del Sur/etnología
4.
Alzheimer Dis Assoc Disord ; 36(1): 29-35, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35149606

RESUMEN

BACKGROUND: The Apolipoprotein E (APOE) gene is the main risk factor for late-onset Alzheimer disease (LOAD). Genetic variants and haplotypes in regions near the APOE locus may be associated with LOAD in the Colombian population. OBJECTIVE: We evaluated frequencies and risk of genetic variants and haplotypes in APOE, TOMM40, and APOC1 promoters, also in putative regulatory enhancer elements (TOMM40 IVS2-4 and TOMM40 IVS6), and in cis-regulatory elements (ME1 and BCR). MATERIALS AND METHODS: Our case-control association study was carried out in 50 patients with LOAD and 50 controls. We determined frequencies and odd ratios for genetic variants and haplotypes. RESULTS: We found a significant association between LOAD and genetic variants at the TOMM40 promoter, at TOMM40 IVS2-4 and TOMM40 IVS6 regulatory enhancer elements, and at the APOC1 promoter. Particularly, variants of Poly-T and APOC1 promoter could anticipate the age of onset of LOAD in our population. We identified three risk haplotypes in TOMM40 (ACGGAG, ACGGGG, and ATAGGC) related to LOAD's age of onset. We also found other risk or protection haplotypes at the TOMM40 and APOE promoters, at TOMM40 IVS2-4, TOMM40 IVS6 regulatory enhancer elements, and at ME1. CONCLUSION: Genetic variants and haplotypes near the APOE locus are related to LOAD risk and accelerated onset of LOAD in the Colombian population.


Asunto(s)
Enfermedad de Alzheimer , Apolipoproteína C-I , Apolipoproteínas E , Proteínas del Complejo de Importación de Proteínas Precursoras Mitocondriales , Edad de Inicio , Apolipoproteína C-I/genética , Apolipoproteínas E/genética , Colombia/epidemiología , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Humanos , Proteínas de Transporte de Membrana/genética , Proteínas del Complejo de Importación de Proteínas Precursoras Mitocondriales/genética
5.
Mol Divers ; 26(5): 2443-2457, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34724138

RESUMEN

A new series of 13 pyrazole-derivative compounds with potential antifungal activity were synthetized with good yields. The series have the (E)-2-((1-(R)-3,5-dimethyl-1H-pyrazol-4-yl)diazenyl)phenol general structure and were characterized by means of X-ray diffraction, UV-Vis, FTIR, 1H-NMR, 13C-NMR, and two-dimensional NMR experiments. This experimental characterization was complemented by DFT simulations. A deep insight regarding molecular reactivity was accomplished employing a conceptual DFT approach. In this sense, dual descriptors were calculated at HF and DFT level of theory and GGV spin-density Fukui functions. The main reactive region within the molecules was mapped through isosurface and condensed representations. Finally, chemical descriptors that have previously shown to be close related to biological activity were compared within the series. Thus, higher values of chemical potential ω and electrophilicity χ obtained for compounds 10, 9, 8, 6 and 7, in this order, suggest that these molecules are the better candidates as biological agents.


Asunto(s)
Antifúngicos , Pirazoles , Antifúngicos/farmacología , Factores Biológicos , Modelos Moleculares , Fenoles , Pirazoles/química , Pirazoles/farmacología
6.
Mov Disord ; 36(2): 434-441, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33150996

RESUMEN

BACKGROUND: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's patients. The objective of this study was to understand the genome-wide burden of copy number variants in Latinos and its association with Parkinson's disease. METHODS: We used genome-wide genotyping data from 747 Parkinson's disease patients and 632 controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. RESULTS: Genome-wide copy number burden analysis showed that patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared with controls (odds ratio, 3.97; 95%CI, 1.69-10.5; P = 0.018). PRKN showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared with patients with other copy number variants (median age at onset, 31 vs 57 years, respectively; P = 7.46 × 10-7 ). CONCLUSIONS: We found that although overall genome-wide copy number variant burden was not significantly different, Parkinson's disease patients were significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that of 250 patients with early-onset disease, 5.6% carried a copy number variant on PRKN in our cohort. Our study is the first to analyze genome-wide copy number variant association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population. © 2020 International Parkinson and Movement Disorder Society.


Asunto(s)
Enfermedad de Parkinson , Edad de Inicio , Variaciones en el Número de Copia de ADN/genética , Estudio de Asociación del Genoma Completo , Hispánicos o Latinos/genética , Humanos , América Latina , Persona de Mediana Edad , Enfermedad de Parkinson/genética
7.
Alzheimer Dis Assoc Disord ; 33(4): 321-326, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31335457

RESUMEN

INTRODUCTION: Late-onset Alzheimer disease (LOAD) is the most common dementia worldwide. APOE-[Latin Small Letter Open E]4 and BIN1 (Bridging Integrator 1) have been implicated in the pathogenesis of this disease, but, although DNA methylation of dinucleotide CpGs in the BIN1 gene influences alterations, it has not been studied in Hispanics. OBJECTIVE: The objective of this study was to evaluate the BIN1 3' intergenic region DNA methylation patterns in a Colombian sample of LOAD patients. METHODS: A case-control study was conducted in 50 individuals with LOAD and 50 age-sex matched controls to determine associations of LOAD with DNA methylation. DNA was isolated from peripheral blood, and methylation levels of 8 CpGs were estimated by bisulfite conversion followed by Sanger sequencing with direct PCR analysis. Logistic regression models adjusted by age, sex, and APOE were used to calculate risk associations between methylation levels and LOAD. RESULTS: Overall, participants with LOAD had significantly lower methylation levels on CpG26 (0.86±0.11 vs. 0.95±0.05; P>0.001), CpG44 (0.84±0.09 vs. 0.94±0.06; P=0.001), and CpG87 (0.64±0.12 vs. 0.82±0.10; P>0.001). Adjusted regression models showed that decreased methylation levels of these CpGs remained as risk factors for LOAD (P<0.05). CONCLUSIONS: Hypomethylation of CpGs in BIN1 might play an important role in the expression of BIN1 and may be a biomarker for identifying individuals at high risk of developing LOAD.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Enfermedad de Alzheimer/genética , Metilación de ADN/genética , Fosfatos de Dinucleósidos/genética , Predisposición Genética a la Enfermedad , Proteínas Nucleares/genética , Proteínas Supresoras de Tumor/genética , Anciano , Apolipoproteína E4/genética , Estudios de Casos y Controles , Colombia , Fosfatos de Dinucleósidos/sangre , Femenino , Humanos , Enfermedades de Inicio Tardío/genética , Masculino
8.
J Med Genet ; 55(12): 837-846, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30323018

RESUMEN

BACKGROUND: Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face. We aimed to understand its molecular cause. METHODS: We performed exome sequencing in two families, targeted sequencing in 10 other families and performed in silico modelling studies and transcript processing analyses to explore the structural and functional consequences of the identified variants. RESULTS: Biallelic POLR3A variants were identified in eight affected individuals and monoallelic variants of the same gene in four other individuals. In the latter, lack of genetic material precluded further analyses. Multiple variants were found to affect POLR3A transcript processing and were mostly located in deep intronic regions, making clinical suspicion fundamental to detection. While biallelic POLR3A variants have been previously reported in 4H syndrome and adolescent-onset progressive spastic ataxia, recurrent haplotypes specifically occurring in individuals with WRS were detected. All WRS-associated POLR3A amino acid changes were predicted to perturb substantially POLR3A structure/function. CONCLUSION: Biallelic mutations in POLR3A, which encodes for the largest subunit of the DNA-dependent RNA polymerase III, underlie WRS. No isolated functional sites in POLR3A explain the phenotype variability in POLR3A-related disorders. We suggest that specific combinations of compound heterozygous variants must be present to cause the WRS phenotype. Our findings expand the molecular mechanisms contributing to progeroid disorders.


Asunto(s)
Alelos , Retardo del Crecimiento Fetal/diagnóstico , Retardo del Crecimiento Fetal/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Variación Genética/genética , Progeria/diagnóstico , Progeria/genética , ARN Polimerasa III/genética , Adulto , Secuencia de Aminoácidos , Secuencia de Bases , Biología Computacional , Consanguinidad , Femenino , Genotipo , Haplotipos , Humanos , Masculino , Modelos Moleculares , Mutación , Linaje , Conformación Proteica , ARN Polimerasa III/química , Reproducibilidad de los Resultados , Análisis de Secuencia de ADN , Relación Estructura-Actividad , Secuenciación del Exoma
9.
Alzheimer Dis Assoc Disord ; 32(4): 305-308, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30222607

RESUMEN

OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in the triggering receptor expressed on myeloid cells 2 (TREM2) gene in a Colombian sample of late-onset Alzheimer disease (LOAD). METHODS: The p.Q33* (rs104894002), p.R47H (rs75932628), p.R62H (rs143332484), and p.D87N (rs142232675) variants of TREM2 gene were directly genotyped using KASPar technology in 358 cases and 329 healthy controls. Sanger sequencing was used to validate >10% of KASPar's results. The Fisher exact test was used to compare the distribution of allelic and genotype frequency between cases and controls, and the Bonferroni correction was set at P<0.05. RESULTS: The minor allele frequency of rs75932628-T was 0.009 in cases and was not found in any healthy controls which suggests a significant association between rs75932628-T and LOAD risk in our sample (P=0.010). The rs143332484-T variant did not exhibit a significant association (P=0.160), whereas rs104894002 and rs142232675 were not found. CONCLUSIONS: Our findings suggest that the rs75932628-T variant of TREM2 is an important risk factor for LOAD in the Colombian population.


Asunto(s)
Enfermedad de Alzheimer/genética , Predisposición Genética a la Enfermedad , Variación Genética , Genotipo , Glicoproteínas de Membrana/genética , Receptores Inmunológicos/genética , Colombia , Femenino , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Factores de Riesgo
10.
Alzheimer Dis Assoc Disord ; 30(4): 305-309, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27023435

RESUMEN

OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and GWA_14q32.13 in a Colombian sample of Late-Onset Alzheimer disease (LOAD) patients. METHODS: A case-control study was conducted in 362 individuals (181 LOADs and 181 controls) to determine the association of single-nucleotide polymorphisms in APOE (e2, e3, and e4), TOMM40 (rs2075650), CR1 (rs665640), PVRL2 (rs6859), SORL1 (rs11218304), PICALM (rs3851179), and GWA_14q32.13 (rs11622883) with LOAD in a sample from Colombia. RESULTS: We were able to confirm the previously reported association of the APOE4 allele with AD. In addition, we report a new significant association with rs2075650 of TOMM40 for LOAD in our sample. We did not detect any significant interaction between TOMM40 and APOE4 carriers (heterozygous or homozygous) for disease risk development. However, Kaplan-Meier survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. In addition, the age of disease onset is earlier if APOE4/4 is present. CONCLUSION: Our findings suggest that rs2075650 of TOMM40 could be involved in earlier presentation of LOAD in the Colombian population.


Asunto(s)
Enfermedad de Alzheimer/genética , Proteínas de Transporte de Membrana/genética , Nectinas/genética , Polimorfismo de Nucleótido Simple/genética , Receptores de Complemento 3b/genética , Anciano , Alelos , Apolipoproteína E4/genética , Estudios de Casos y Controles , Colombia , Femenino , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , Proteínas del Complejo de Importación de Proteínas Precursoras Mitocondriales
11.
Bioelectrochemistry ; 159: 108741, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38810323

RESUMEN

Greywater reuse has emerged as a promising solution for addressing water shortages. However, greywater needs treatment before reuse to meet the required water quality standards. Conventional wastewater treatment technologies are unsuitable for recreating highly decentralized domestic greywater. This study evaluated bioelectrochemical reactors (BERs) with granular activated carbon (GAC) as a sustainable alternative for developing decentralized and low-cost biological treatment systems. BERs using GAC as the anode material and conventional GAC biofilters (BFs) for synthetic greywater treatment were operated in batch mode for 110 days in two stages: (i) with polarized anodes at -150 mV vs. Ag/AgCl and (ii) as a microbial fuel cell with an external resistance of 1 kΩ. Anode polarization produced an electrosorption effect, increasing the ion removal of the BERs. Power production during the operation and cyclic voltammetry tests of the extracted granules revealed electrochemically active biofilm development on the BERs. Although low power density (0.193 ± 0.052 µW m-3) was observed in BERs, they showed a similar performance in sCOD removal (BER = 91.6-89.6 %; BF = 96.2-93.2 %) and turbidity removal (BER = 81-82 %; BF = 30-62 %) to BFs that used 50 % aeration. Additionally, scanning electron microscopy of sampled granules showed higher biomass formation in BER granules than in BF granules, suggesting a higher contribution of sessile (vs. planktonic) cells to the treatment. Thus, the results highlight the synergistic removal effect of the GAC-based BER. The scalable design presented in this study represents a proof-of-concept for developing BERs to use in decentralized greywater treatment systems.


Asunto(s)
Reactores Biológicos , Carbón Orgánico , Purificación del Agua , Carbón Orgánico/química , Purificación del Agua/métodos , Fuentes de Energía Bioeléctrica/microbiología , Electrodos , Aguas Residuales , Eliminación de Residuos Líquidos/métodos , Biopelículas , Técnicas Electroquímicas/métodos
12.
Acta Crystallogr C ; 69(Pt 10): 1200-4, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24096516

RESUMEN

The title compound, C17H11F5N4O, is described and compared with two closely related analogues in the literature. There are two independent molecules in the asymmetric unit, linked by N-H···O hydrogen bonds and π-π interactions into dimeric entities, presenting a noticeable noncrystallographic C2 symmetry. These dimers are in turn linked by a medium-strength type-I C-F···F-C interaction into elongated tetramers. Much weaker C-H···F contacts link the tetramers into broad two-dimensional substructures parallel to (101).


Asunto(s)
Hidrazinas/química , Pirazolonas/química , Cristalografía por Rayos X , Enlace de Hidrógeno , Estructura Molecular
13.
Acta Crystallogr C ; 69(Pt 1): 101-4, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23282925

RESUMEN

The title compound, C(17)H(10)F(5)N(5)O(2), is described and compared with its 4-nitrophenyl isomer [Bustos, Sánchez, Schott, Alvarez-Thon & Fuentealba (2007). Acta Cryst. E63, o1138-o1139]. The title molecule presents its nitro group split into two rotationally disordered components, which in conjunction with the rotation of the `unclamped' rings constitute the main molecular differences. Packing is directed by a head-to-tail type `I' C-F...F-C interaction, generating double-chain strips running along [100]. These substructures are interlinked by a variety of weak F...F, O...F, F...π and O...π interactions.


Asunto(s)
Hidrocarburos Fluorados/química , Nitrocompuestos/química , Pirazoles/química , Cristalografía por Rayos X , Enlace de Hidrógeno , Estructura Molecular
14.
medRxiv ; 2023 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-36778409

RESUMEN

Sex differences in Parkinson Disease (PD) risk are well-known. However, it is still unclear the role of sex chromosomes in the development and progression of PD. We performed the first X-chromosome Wide Association Study (XWAS) for PD risk in Latin American individuals. We used data from three admixed cohorts: (i) Latin American Research consortium on the GEnetics of Parkinson's Disease (n=1,504) as discover cohort and (ii) Latino cohort from International Parkinson Disease Genomics Consortium (n = 155) and (iii) Bambui Aging cohort (n= 1,442) as replication cohorts. After developing a X-chromosome framework specifically designed for admixed populations, we identified eight linkage disequilibrium regions associated with PD. We fully replicated one of these regions (top variant rs525496; discovery OR [95%CI]: 0.60 [0.478 - 0.77], p = 3.13 × 10 -5 ; replication OR: 0.60 [0.37-0.98], p = 0.04). rs525496 is an expression quantitative trait loci for several genes expressed in brain tissues, including RAB9B, H2BFM, TSMB15B and GLRA4 . We also replicated a previous XWAS finding (rs28602900), showing that this variant is associated with PD in non-European populations. Our results reinforce the importance of including X-chromosome and diverse populations in genetic studies.

15.
Mol Biol Evol ; 28(8): 2185-95, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21339509

RESUMEN

The Drosophila cold acclimation gene (Dca) is involved in the adaptive response to low temperatures. This gene is upregulated at the transcriptional level when D. melanogaster flies are exposed 1 day to 15 °C. Dca (or smp-30) is a member of the SMP-30/Gluconolactonase/LRE-like family. In the current study, we characterized the members of this gene family in the 12 Drosophila species with available complete genomes sequences. Two paralogous genes, Dca and regucalcin, were identified in all the Sophophora subgenus species (9 of the 12 species), and their presence was further confirmed in three other species of the subgenus (D. subobscura, D. madeirensis, and D. guanche). However, only regucalcin was present in the species of the Drosophila subgenus (D. grimshawi, D. virilis, and D. mojavensis). The phylogenetic analysis and the molecular organization of Dca that is a nested intronic gene support that Dca arose by a duplication event from the ancestral regucalcin gene after the split of the Sophophora and Drosophila subgenera but before the Sophophora radiation. After the duplication event, the nonsynonymous fixation rate increased in the branch leading to Dca (but not to regucalcin), suggesting the neofunctionalization of the former duplicate. Thus, regucalcin would have maintained the ancestral gene function, and Dca would have acquired a new function likely related to Ca²âº homeostasis and cold acclimation. Molecular evolution of Dca has been affected by its implication in the adaptive response to cold temperatures. Indeed, the gene has evolved under stronger purifying selection in the temperate than in the tropical Sophophora species, as reflected by the ratio of nonsynonymous to synonymous substitutions. This result is consistent with functional constraints acting on the DCA protein to keep species adaptation to temperate climates. Dca and regucalcin also differ in their expression patterns. The expression profile of regucalcin is similar to that of the anterior fat body protein gene (AFP) of Sarcophaga peregrina and Calliphora vicina, which is also a member of the SMP-30/Gluconolactonase/LRE-like gene family. Sequence similarity and expression profile suggest that AFP and regucalcin are indeed orthologous genes.


Asunto(s)
Adaptación Biológica/genética , Proteínas de Unión al Calcio/genética , Frío , Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Duplicación de Gen/genética , Genes de Insecto/genética , Secuencia de Aminoácidos , Animales , Drosophila melanogaster/clasificación , Evolución Molecular , Masculino , Datos de Secuencia Molecular , Filogenia , Alineación de Secuencia
16.
Acta Crystallogr Sect E Struct Rep Online ; 68(Pt 2): o353-4, 2012 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-22346981

RESUMEN

There are two independent mol-ecules, A and B, in the asymmetric unit of the title compound, C(19)H(20)N(4), in each of which the N=N double bond has an E conformation. The dihedral angles between the pyrazole ring and the p-tolyl rings in the 1- and 4-positions are 22.54 (8) and 35.73 (7)°, respectively, in mol-ecule A. The corresponding dihedral angles in mol-ecule B are 28.13 (8) and 22.18 (8)°. In the crystal, the A and B mol-ecules are linked by weak C-H⋯π inter-actions, leading to inversion dimers in each case.

17.
Acta Crystallogr Sect E Struct Rep Online ; 68(Pt 8): o2351-2, 2012 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-22904819

RESUMEN

There are two independent mol-ecules, A and B, in the asymmetric unit of the title compound, C(16)H(12)ClN(5)O(3). The relative orientations of the chloro-phenyl ring with respect to the pyrazole ring in the two crystallographically independent mol-ecules are different, and their corresponding dihedral angles are -53.3 (2) and 114.09 (18)° in mol-ecules A and B, respectively. There are two strong intramolecular N-H⋯O hydrogen bonds, and two weak intramolecular C-H⋯O and C-H⋯Cl hydrogen bonds. The crystal packing is constructed by weak C-H⋯O and N-H⋯O inter-actions, and two π-π stacking inter-actions [centroid-centroid distances = 3.7894 (9) and 3.5719 (10) Å], forming a mol-ecular ladder along the a axis.

18.
Artículo en Inglés | MEDLINE | ID: mdl-35206599

RESUMEN

For many years, the world's coastal marine ecosystems have received industrial waste with high nitrogen concentrations, generating the eutrophication of these ecosystems. Different physicochemical-biological technologies have been developed to remove the nitrogen present in wastewater. However, conventional technologies have high operating costs and excessive production of brines or sludge which compromise the sustainability of the treatment. Microbial electrochemical technologies (METs) have begun to gain attention due to their cost-efficiency in removing nitrogen and organic matter using the metabolic capacity of microorganisms. This article combines a critical review of the environmental problems associated with the discharge of the excess nitrogen and the biological processes involved in its biogeochemical cycle; with a comparative analysis of conventional treatment technologies and METs especially designed for nitrogen removal. Finally, current METs limitations and perspectives as a sustainable nitrogen treatment alternative and efficient microbial enrichment techniques are included.


Asunto(s)
Desnitrificación , Nitrógeno , Reactores Biológicos , Ecosistema , Nitrógeno/metabolismo , Aguas Residuales
19.
Parkinsonism Relat Disord ; 102: 7-15, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35917738

RESUMEN

BACKGROUND: Large-scale Parkinson's disease (PD) genome-wide association studies (GWAS) have, until recently, only been conducted on subjects with European-ancestry. Consequently, polygenic risk scores (PRS) constructed using PD GWAS data are likely to be less predictive when applied to non-European cohorts. METHODS: Using GWAS data from the largest study to date, we constructed a PD PRS for a Latino PD cohort (1497 subjects from LARGE-PD) and tested it for association with PD status and age at onset. We validated the PRS performance by testing it in an independent Latino cohort (448 subjects) and by repeating the analysis in LARGE-PD with the addition of 440 external Peruvian controls. We also tested SNCA haplotypes for association with PD risk in LARGE-PD and a European-ancestry PD cohort. RESULTS: The GWAS-significant PD PRS had an area under the receiver-operator curve (AUC) of 0.668 (95% CI: 0.640-0.695) in LARGE-PD. The inclusion of external Peruvian controls mitigated this result, dropping the AUC 0.632 (95% CI: 0.607-0.657). At the SNCA locus, haplotypes differ by ancestry. Ancestry-specific SNCA haplotypes were associated with PD status in both LARGE-PD and the European-ancestry cohort (p-value < 0.05). These haplotypes both include the rs356182 G-allele, but only share 14% of their variants overall. CONCLUSION: The PD PRS has potential for PD risk prediction in Latinos, but variability caused by admixture patterns and bias in a European-ancestry PD PRS data limits its utility. The inclusion of diverse subjects can help elucidate PD risk loci and improve risk prediction in non-European cohorts.


Asunto(s)
Estudio de Asociación del Genoma Completo , Enfermedad de Parkinson , Predisposición Genética a la Enfermedad/genética , Haplotipos , Hispánicos o Latinos/genética , Humanos , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , alfa-Sinucleína/genética
20.
Acta Crystallogr Sect E Struct Rep Online ; 67(Pt 6): m675-6, 2011 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-21754584

RESUMEN

In the title compound, [MoBr(2)(C(12)H(11)N(2))(C(12)H(10)N(2))(C(5)H(7)O(2))], the Mo(VI) atom is six-coordinated in a distorted octa-hedral geometry by two N atoms from the diphenyl-hydrazide(1-) and diphenyl-hydrazide(2-) ligands, two O atoms from a bidentate acetyl-acetonate ligand and two Br(-) ions. The mol-ecules form an inversion dimer via a pair of weak C-H⋯O hydrogen bonds and a π-π stacking inter-action with a centroid-centroid distance of 3.7401 (12) Å. Weak intra-molecular C-H⋯Br inter-actions and an intra-molecular π-π stacking inter-action with a centroid-centroid distance of 3.8118 (15) Šare also observed.

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