RESUMO
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.-69G>T [GenBank: NM_001173991.3]), in individuals of South Asian and African ancestry, respectively. Genotypes included 71 homozygotes and 3 mixed heterozygotes in trans with a predicted loss-of-function allele. Haplotype analysis showed single-nucleotide variants (SNVs) common across families, suggesting ancestral alleles within the two distinct ethnic populations. Clinical phenotype analysis of 62 available individuals from 49 families indicated a similar clinical presentation with night blindness in the first decade and progressive peripheral field loss thereafter. No evident systemic ciliopathy features were noted. Functional characterization of these variants by luciferase reporter gene assay showed reduced promotor activity. Nanopore sequencing confirmed the lower transcription of the TMEM216 c.-69G>T allele in blood-derived RNA from a heterozygous carrier, and reduced expression was further recapitulated by qPCR, using both leukocytes-derived RNA of c.-69G>T homozygotes and total RNA from genome-edited hTERT-RPE1 cells carrying homozygous TMEM216 c.-69G>A. In conclusion, these variants explain a significant proportion of unsolved cases, specifically in individuals of African ancestry, suggesting that reduced TMEM216 expression might lead to abnormal ciliogenesis and photoreceptor degeneration.
Assuntos
Linhagem , Polimorfismo de Nucleotídeo Único , Retinose Pigmentar , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem , Alelos , Haplótipos , Heterozigoto , Homozigoto , Proteínas de Membrana/genética , Fenótipo , Retinose Pigmentar/genética , Retinose Pigmentar/patologiaRESUMO
The current study aims to use a facile and novel method to remove Congo red (CR) and Methyl Orange (MO) dyes from contaminated water with Maize offal biomass (MOB) and its nanocomposite with magnetic nanoparticles (MOB/MNPs). The MOB and MOB/MNPs were characterized with Fourier-transform infrared (FTIR), scanning electron microscopy (SEM), BET, XRD and point of zero charge (pHPZC). The influence of initial CR and MO levels (20-320 mg/L), adsorbent dosage (1-3 g/L), pH (3-9), co-exiting ions, temperature (25-45 °C) and time (15-180 min) was estimated. The findings demonstrated that MOB/MNPs exhibited excellent adsorption of 114.75 and 29.0 mg/g for CR and MO dyes, respectively while MOB exhibited 81.35 and 23.02 mg/g adsorption for CR and MO dyes, respectively at optimum pH-5, and dose 2 g/L. Initially, there was rapid dye removal which slowed down until equilibrium was reached. The interfering/competing ions in contaminated water and elevated temperature favored the dyes sequestration. The MOB/MNPs exhibited tremendous reusability and stability. The dyes adsorption was spontaneous, and exothermic with enhanced randomness. The adsorption effects were well explained with Freundlich model, pseudo second order and Elovich models. It is concluded that MOB/MNPs showed excellent, eco-friendly, and cost-effective potential to decontaminate the water.
Nanocomposite of Maize offal biomass demonstrated higher dyes removal.FTIR, SEM, BET, XRD and pHPZC provided vital evidence for dyes adsorption.MOB/MNPs displayed excellent stability and reusability for dyes adsorption.Groundwater samples exposed a higher dyes removal.Results were validated with equilibrium and kinetic adsorption models.
Assuntos
Compostos Azo , Nanocompostos , Poluentes Químicos da Água , Vermelho Congo , Corantes/química , Zea mays , Biomassa , Biodegradação Ambiental , Adsorção , Íons , Água , Nanocompostos/química , Fenômenos Magnéticos , Cinética , Poluentes Químicos da Água/química , Concentração de Íons de HidrogênioRESUMO
The present study was performed to assess Ni-immobilization and the phytoremediation potential of sunflower by the application of quinoa stalks biochar (QSB) and its magnetic nanocomposite (MQSB). The QSB and MQSB were characterized with FTIR, SEM, EDX, and XRD to get an insight of their surface properties. Three-week-old seedlings of sunflower were transplanted to soil spiked with Ni (0, 15, 30, 60, 90 mg kg-1), QSB and MQSB (0, 1, and 2%) in the wire house under natural conditions. The results showed that increasing Ni levels inhibited sunflower growth and yield due to the high production of reactive oxygen species (ROS) and lipid peroxidation. Enzyme activities like superoxide dismutase (SOD), catalase (CAT), ascorbate peroxidase (APX), and peroxidase (POX) also increased as Ni levels increased. However, the application of QSB and MQSB reduced Ni uptake, root-shoot, and shoot-seed translocation and decreased the generation of ROS, and lowered the activity of SOD, CAT, APX, and POX, leading to improved growth and yield, especially with MQSB. This was verified through SEM, EDX, XRD, and FTIR. It can be concluded that QSB and MQSB can effectively enhance Ni-tolerance in sunflowers and mitigate oxidative stress and human health risks.
The article focuses on enhancing the phytoremediation remediation potential of Helianthus annuus by using the quinoa stalks biochar (QSB) and magnetic quinoa stalks biochar (MQSB) by immobilization of Ni in soil and ultimately attenuation of oxidative stress in plants and human health risk. Iron enrichment of biochar improves the surface characteristics (surface area, functional groups, porosity, etc.) which help to immobilize metals ions. To the best of our knowledge, QSB and MQSB has never been used before to study the Ni dynamics and for enhancing sunflower phytoremediation potential.
Assuntos
Chenopodium quinoa , Helianthus , Poluentes do Solo , Humanos , Níquel/farmacologia , Helianthus/metabolismo , Espécies Reativas de Oxigênio/farmacologia , Chenopodium quinoa/metabolismo , Ferro , Biodegradação Ambiental , Estresse Oxidativo , Superóxido Dismutase/metabolismo , Superóxido Dismutase/farmacologia , Poluentes do Solo/análise , Antioxidantes/metabolismo , Antioxidantes/farmacologiaRESUMO
Plants antioxidative system is the first line of defense against oxidative stress caused secondarily by toxic ions under salinity. Plants with pre-activated antioxidative system can better adapt to salinity and can result in higher growth and yield. The current experiment was conducted to assess the adaptation of two tomato genotypes (Riogrande and Green Gold) with pre-activated antioxidative enzymes against salt stress. Tomato seedlings were exposed to mild stress (Ni: 0, 15 and 30 mg L-1) for three weeks to activate the antioxidative enzymes. The seedlings with pre-activated antioxidative enzymes were then grown under severe stress in hydroponics (0, 75 and 150 mM NaCl) and soil (control, 7.5 and 15 dS m-1) to check the adaptation, growth and yield. The results showed that Ni toxicity significantly enhanced activities of antioxidant enzymes (SOD, CAT, APX and POX) in both the genotypes and reduced growth with higher values in genotype Riogrande than Green Gold. The seedlings with pre-activated antioxidant enzymes showed better growth, low Na+ and high K+ uptake and maintained higher antioxidative enzymes activity than non-treated seedlings after four weeks of salt stress treatment in hydroponics. Similarly, the results in soil salinity treatment of the Ni pretreated seedlings showed higher yield characteristics (fruit yield per plant, average fruit weight and fruit diameter) than non-treated seedlings. However, Ni pretreatment had nonsignificant effect on tomato fruit quality characteristics like fruit dry matter percentage, total soluble solids, fruit juice pH and titratable acidity. The genotype Riogrande showed better growth, yield and fruit quality than Green Gold due to higher activity of antioxidant enzymes and better ion homeostasis as a result of Ni pretreatment. The results suggest that pre-activation antioxidant enzymes by Ni treatment proved to be an effective strategy to attenuate salt stress for better growth and yield of tomato plants.
Assuntos
Solanum lycopersicum , Solanum , Antioxidantes , Níquel/toxicidade , Estresse Salino , Íons , Homeostase , Solo , PlântulaRESUMO
Batch scale removal of arsenic (As) from aqueous media was explored using nano-zero valent iron (Fe0) and copper (Cu0) particles. The synthesized particles were characterized using a Brunauer-Emmett-Teller (BET) surface area analyzer, a scanning electron microscope (SEM), and Fourier transform infrared spectroscopy (FTIR). The BET result showed that the surface area (31.5 m2/g) and pore volume (0.0415 cm3/g) of synthesized Fe0 were higher than the surface area (17.56 m2/g) and pore volume (0.0287 cm3/g) of Cu0. The SEM results showed that the morphology of the Fe0 and Cu0 was flowery microspheres and highly agglomerated with thin flakes. The FTIR spectra for Fe0 showed broad and intense peaks as compared to Cu0. The effects of the adsorbent dose (1-4 g/L), initial concentration of As (2 mg/L to 10 mg/L) and solution pH (2-12) were evaluated on the removal of As. Results revealed that effective removal of As was obtained at pH 4 with Fe0 (94.95%) and Cu0 (74.86%). When the dosage increased from 1 to 4 g L-1, the As removal increased from 70.59 to 93.02% with Fe0 and from 67 to 70.59% with Cu0. However, increasing the initial As concentration decreased the As removal significantly. Health risk indices, including estimated daily intake (EDI), hazard quotient (HQ), and cancer risk (CR) were employed and a significant decline (up to 99%) in risk indices was observed in As-treated water using Fe0/Cu0. Among the adsorption isotherm models, the values of R2 showed that isothermal As adsorption by Fe0 and Cu0 was well explained by the Freundlich adsorption isotherm model (R2 > 0.98) while the kinetic experimental data was well-fitted with the Pseudo second order model. The Fe0 showed excellent stability and reusability over five sorption cycles, and it was concluded that, compared to the Cu0, the Fe0 could be a promising technology for remediating As-contaminated groundwater.
Assuntos
Arsênio , Poluentes Químicos da Água , Cobre , Água/química , Ferro/química , Cinética , Adsorção , Poluentes Químicos da Água/análise , Concentração de Íons de HidrogênioRESUMO
Mass loss from fresh produce is linked to a reduction of its aesthetic value. However, a relationship between mass loss and biochemical quality parameters at different storage conditions has not been widely explored. Therefore, the current study is designed with the objectives to determine the behavior of fruit quality parameters and a relationship between fruit mass loss and fruit quality at two different storage conditions. Sweet orange fruit stored in a zero energy cool chamber (ZECC) had greater shelf-life of more than 15â¯days, fruit size (62.40â¯mm) and peel (35.15%) and lower mass loss (4.94%), juice (32.19%) and electrical conductivity (EC) (2.06â¯S/m) as compared to ambient conditions in laboratory during 25â¯days of storage. In ZECC, only EC was positively correlated (râ¯= 0.57) with mass loss, whereas at room temperature EC (râ¯= 0.76), total soluble solids (TSS) (râ¯= 0.60) and fruit internal temperature (râ¯= 0.64) were positively and peel (%) (râ¯= -0.52) and fruit diameter (râ¯= -0.49) were negatively correlated with mass loss. Correlation of combined storage conditions revealed that EC (râ¯= 0.47) and TSS (râ¯= 0.50) were positively and peel (%) (râ¯= -0.77) and fruit diameter (râ¯= -0.55) were negatively correlated with mass loss (%). The principal component analysis (PCA) revealed that the scores of room temperature were strongly associated with TSS, pH, EC, mass loss (%), juice (%) and internal temperature (°C), whereas scores of ZECC were strongly associated with pulp (%), ascorbic acid (mg 100â¯mL-1), acidity (%), and fruit diameter (mm).
RESUMO
INTRODUCTION: Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities. METHODS: We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals affected with CSNB. Exome sequencing was performed in probands of all four families; Sanger sequencing was performed in additional members to test co-segregation of the variants identified. RESULTS: We identified two novel and likely pathogenic variants in two pedigrees, namely, NM_002905.4:c.668A>C (p.Gln223Pro) in RDH5 and NM_022567.2:c.908del (p.Gly303ValfsTer45) in NYX. In the two other families, the variants NM_002905.4:c.319G>C (p.Gly107Arg) in RDH5 and NM_000541.5:c.874C>T (p.Arg292Ter) in SAG were identified. These latter mutations have been reported previously, but not in the Pakistani population. CONCLUSIONS: Our findings expand the mutational spectrum of CSNB, in particular within the population of Southern Punjab.
Assuntos
Eletrorretinografia , Cegueira Noturna , Consanguinidade , Oftalmopatias Hereditárias , Doenças Genéticas Ligadas ao Cromossomo X , Humanos , Mutação , Miopia , Cegueira Noturna/genética , Paquistão , LinhagemRESUMO
Soils salinization along with heavy metals contamination is among the serious environmental menaces. The present experiment was conducted to study the combined influence of salinity and nickel (Ni) on growth and physiological attributes of quinoa (Chenopodium quinoa Willd.). Thirty-day-old healthy and uniform seedlings of quinoa genotype A7 were exposed to different concentrations of Ni (0, 100, 200, 400 µM), NaCl (0, 150, 300 mM) and their combinations for three weeks. Results indicated that plant growth, pigments and stomatal conductance decreased with increasing Ni concentrations in nutrient solution. Combining lower level of salt (150 mM NaCl) with Ni resulted in improvement in growth and physiological attributes of quinoa. However, the combined application of higher level of salt (300 mM NaCl) with Ni was more detrimental for plant growth and caused more oxidative stress (H2O2 and TBARS) than the alone treatments. The oxidative stress was mitigated by 5.5-fold, 5-fold and 15-fold increase in the activities of SOD, CAT and APX, respectively. The concentration of Na was increased, while K and Ni decreased under the combined treatment of Ni and salinity. Multivariate analysis revealed that a moderate level of salinity had positive effects on growth and Ni phytoremediation potential of quinoa. The higher tolerance index, bioconcentration factor and lower translocation factor depicted that quinoa genotype A7 can be cultivated for phytostabilization of Ni under salinity stress. It was concluded that NaCl salinity level of 150 mM is promising for increasing growth of quinoa on Ni contaminated soils.
Assuntos
Chenopodium quinoa , Biodegradação Ambiental , Chenopodium quinoa/genética , Peróxido de Hidrogênio , Níquel/toxicidade , SalinidadeRESUMO
Soil contamination with Cd and Pb is a worldwide problem which not only degrades the environment but also poses a serious threat for human and animal health. Phytoremediation of these contaminated soils using halophytic plants like quinoa presents an opportunity to clean the soils and use them for crop production. The current experiment was performed to evaluate the Cd and Pb tolerance potential of quinoa and subsequently its implications for human health. Three weeks old quinoa seedlings were exposed to Cd (30, 60 and 90 mg kg-1) and Pb (50, 100 and 150 mg kg-1) levels along with a control. The results revealed that plant height decreased at highest levels of soil Cd and Pb. Shoot, root and seed dry weight decreased with increasing levels of soil Cd and Pb. Tissue Cd and Pb concentrations increased with increasing levels of Cd and Pb in soil, the highest Cd was found in roots while the lowest in seeds. The highest Pb concentration was found in shoots at low Pb level, while in roots at high level of Pb. Increasing levels of Cd and Pb stimulated the activities of measured antioxidant enzymes and decreased membrane stability index. The health risk assessments of Cd and Pb revealed that hazard quotient was < 1 for both the metals. However, the results of total hazard quotient showed that value was < 1 for Pb and 1.19 for Cd showing potential carcinogenicity. This study demonstrates that quinoa has good phytoremediation potential for Cd and Pb however, the risk of Cd toxicity is challenging for human health.
Assuntos
Chenopodium quinoa , Poluentes do Solo , Biodegradação Ambiental , Cádmio/análise , Chenopodium quinoa/metabolismo , Humanos , Chumbo/metabolismo , Chumbo/toxicidade , Plantas Tolerantes a Sal/metabolismo , Solo , Poluentes do Solo/análiseRESUMO
Peroxisomes, single-membrane intracellular organelles, play an important role in various metabolic pathways. The translocation of proteins from the cytosol to peroxisomes depends on peroxisome import receptor proteins and defects in peroxisome transport result in a wide spectrum of peroxisomal disorders. Here, we report a large consanguineous family with autosomal recessive congenital cataracts and developmental defects. Genome-wide linkage analysis localized the critical interval to chromosome 12p with a maximum two-point LOD score of 4.2 (θ = 0). Next-generation exome sequencing identified a novel homozygous missense variant (c.653 T > C; p.F218S) in peroxisomal biogenesis factor 5 (PEX5), a peroxisome import receptor protein. This missense mutation was confirmed by bidirectional Sanger sequencing. It segregated with the disease phenotype in the family and was absent in ethnically matched control chromosomes. The lens-specific knockout mice of Pex5 recapitulated the cataractous phenotype. In vitro import assays revealed a normal capacity of the mutant PEX5 to enter the peroxisomal Docking/Translocation Module (DTM) in the presence of peroxisome targeting signal 1 (PTS1) cargo protein, be monoubiquitinated and exported back into the cytosol. Importantly, the mutant PEX5 protein was unable to form a stable trimeric complex with peroxisomal biogenesis factor 7 (PEX7) and a peroxisome targeting signal 2 (PTS2) cargo protein and, therefore, failed to promote the import of PTS2 cargo proteins into peroxisomes. In conclusion, we report a novel missense mutation in PEX5 responsible for the defective import of PTS2 cargo proteins into peroxisomes resulting in congenital cataracts and developmental defects.
Assuntos
Catarata/genética , Mutação de Sentido Incorreto , Sinais de Orientação para Peroxissomos , Receptor 1 de Sinal de Orientação para Peroxissomos/genética , Peroxissomos/metabolismo , Transportadores de Cassetes de Ligação de ATP/metabolismo , Animais , Transporte Biológico Ativo , Catarata/congênito , Catarata/metabolismo , Cromossomos Humanos Par 12 , Consanguinidade , Feminino , Ligação Genética , Humanos , Cristalino/metabolismo , Masculino , Camundongos , Camundongos Knockout , Receptor 1 de Sinal de Orientação para Peroxissomos/metabolismo , Proteína Sequestossoma-1/metabolismo , Sequenciamento do ExomaRESUMO
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post fertilization. The depressed electroretinogram (ERG) cone response and cone spectral sensitivity of 5 dpf KO zebrafish and reduced eye size, retinal thickness, and expression of rod and cone opsins could be rescued by injection of wild type CLCC1 mRNA. Clcc1+/- KO mice showed decreased ERGs and photoreceptor number. Together these results strongly suggest that intracellular chloride transport by CLCC1 is a critical process in maintaining retinal integrity, and CLCC1 is crucial for survival and function of retinal cells.
Assuntos
Canais de Cloreto/genética , Mutação de Sentido Incorreto , Retinose Pigmentar/genética , Animais , Povo Asiático/genética , Linhagem Celular , Canais de Cloreto/metabolismo , Citoplasma/metabolismo , Proteínas do Olho/genética , Proteínas do Olho/metabolismo , Células HEK293 , Homozigoto , Humanos , Camundongos , Camundongos Knockout , Paquistão , Retina/metabolismo , Células Fotorreceptoras Retinianas Cones/metabolismo , Células Fotorreceptoras Retinianas Bastonetes/metabolismo , Retinose Pigmentar/diagnóstico , Peixe-Zebra/genética , Peixe-Zebra/metabolismoRESUMO
Understanding groundwater quality and hydrogeochemical behavior is important because consumption of the potentially toxic elements (PTEs)-contaminated drinking water may induce several health problems for humans and animals. In the current study, we examined the potential groundwater contamination with various PTEs (arsenic, As; cadmium, Cd; copper, Cu; manganese; Mn) and the PTEs-induced health risk. Groundwater (n = 111) was characterized for total As, Cd, Cu, and Mn concentrations and other water quality attributes along the River Sutlej floodplain of Punjab, Pakistan. Results revealed that groundwater, which is used for drinking purpose, contained high concentrations of As and Cd (mean As: 33 µg/L, mean Cd: 3 µg/L), exceeding 100% and 32% than the World Health Organization's safe limits (10 and 3 µg/L, respectively) in drinking water. The other water quality attributes (i.e., EC, HCO3, Cl and SO4) were also found above their safe limits in most of the wells. Hydrogeochemical data showed that groundwater was dominated with Na-SO4, Na-Cl, Ca/Mg-CO3 type saline water. The hazard quotient and cancer risk indices values calculated for As and Cd indicated potential threat (carcinogenic risk > 0.0001 and non-carcinogenic risk > 1.0) of drinking groundwater in the study area. This study shows that the groundwater along River Sutlej floodplain poses a health threat to the communities relying on it for drinking and irrigation due to high concentrations of As and Cd in water. Moreover, it is important to monitor groundwater quality in the adjacent areas along River Sutlej floodplain and initiate suitable mitigation and remediation programs for the safety of people's health in Punjab, Pakistan.
Assuntos
Arsênio , Água Subterrânea , Poluentes Químicos da Água , Arsênio/análise , Arsênio/toxicidade , Monitoramento Ambiental , Humanos , Paquistão , Rios , Poluentes Químicos da Água/análise , Poluentes Químicos da Água/toxicidadeRESUMO
Purpose: Primary congenital glaucoma (PCG) is a genetically heterogeneous disorder caused by developmental defects in the anterior chamber and trabecular meshwork. This disease is an important cause of childhood blindness. In this study, we aim to identify the genetic determinants of PCG in three consanguineous families of Pakistani descent. Methods: Affected members of all three families underwent detailed ophthalmological examination including slit-lamp biomicroscopy. Blood samples were collected from affected and healthy members of all three families, and genomic DNA was extracted. Linkage analysis was performed for the known or reported loci of PCG to localize the disease interval, and logarithm of odds (LOD) scores were calculated. All protein-coding exons of the candidate gene, latent transforming growth factor-beta binding protein 2 (LTBP2), were bidirectionally sequenced to identify the disease-causing mutation. Results: Short tandem repeat (STR) marker-based linkage analysis localized the critical interval to chromosome 14q with a maximum two-point LOD score of 2.86 (PKGL076), 2.8 (PKGL015), and 2.92 (PKGL042). Bidirectional Sanger sequencing of LTBP2 revealed three novel pathogenic variants, i.e., c.3028G>A (p.Asp1010Asn), c.3427delC (p.Gln1143Argfs*35), and c.5270G>A (p.Cys1757Tyr) in PKGL076, PKGL015, and PKGL042, respectively. All three mutations segregated with the disease phenotype in their respective families and were absent in 200 ethnically matched normal chromosomes. Conclusions: We identified three novel mutations, p.D1010N, p.Q1143Rfs*35, and p.C1757Y, in LTBP2 responsible for PCG.
Assuntos
Cromossomos Humanos Par 14/genética , Glaucoma/genética , Proteínas de Ligação a TGF-beta Latente/genética , Adolescente , Alelos , Criança , Pré-Escolar , Análise Mutacional de DNA , Evolução Molecular , Éxons , Feminino , Ligação Genética , Glaucoma/congênito , Glaucoma/fisiopatologia , Humanos , Proteínas de Ligação a TGF-beta Latente/sangue , Masculino , Mutação , Paquistão , Linhagem , Análise de Sequência de DNARESUMO
Purpose: This study was designed to identify the pathogenic variants in three consanguineous families with congenital cataracts segregating as a recessive trait. Methods: Consanguineous families with multiple individuals manifesting congenital cataracts were ascertained. All participating members underwent an ophthalmic examination. A small aliquot of the blood sample was collected from all participating individuals, and genomic DNAs were extracted. Homozygosity-based linkage analysis was performed using short tandem repeat (STR) markers. The haplotypes were constructed with alleles of the STR markers, and the two-point logarithm of odds (LOD) scores were calculated. The candidate gene was sequenced bidirectionally to identify the disease-causing mutations. Results: Linkage analysis localized the disease interval to chromosome 3p in three families. Subsequently, bidirectional Sanger sequencing identified two novel mutations-a single base deletion resulting in a frameshift (c.3196delC; p.His1066IlefsTer10) mutation and a single base substitution resulting in a nonsense (c.4270C>T; p.Arg1424Ter) mutation-and a known missense (c.4127T>C, p.Leu1376Pro) mutation in FYCO1. All three mutations showed complete segregation with the disease phenotype and were absent in 96 ethnically matched control individuals. Conclusions: We report two novel mutations and a previously reported mutation in FYCO1 in three large consanguineous families. Taken together, mutations in FYCO1 contribute nearly 15% to the total genetic load of autosomal recessive congenital cataracts in this cohort.
Assuntos
Catarata/genética , Proteínas Associadas aos Microtúbulos/genética , Adulto , Alelos , Catarata/sangue , Catarata/congênito , Catarata/patologia , Criança , Pré-Escolar , Cromossomos Humanos Par 3/genética , Códon sem Sentido , Consanguinidade , Família , Feminino , Mutação da Fase de Leitura , Genes Recessivos , Ligação Genética , Predisposição Genética para Doença , Haplótipos , Homozigoto , Humanos , Lactente , Masculino , Repetições de Microssatélites , Proteínas Associadas aos Microtúbulos/sangue , Mutação de Sentido Incorreto , Paquistão , Linhagem , FilogeniaRESUMO
Soil salinity and arsenic (As) contamination are serious environmental problems. To investigate the effects of salinity on As uptake and physiological and biochemical attributes of quinoa (Chenopodiumquinoa Willd.), a hydroponic experiment was performed. One-month old healthy plants of two quinoa genotypes; Vikinga and A7 were transplanted in plastic tubs containing half strength Hoagland's nutrient solution. Plants were exposed to different levels of As (0, 150 and 300 µM), salinity (0, 150 and 300 mM) and their combinations (150 µM As + 300 mM NaCl; 300 µM As + 300 mM NaCl) for five weeks. Results revealed that combined application of salinity and As caused more pronounced reduction in growth, chlorophyll contents and caused more oxidative damage in both quinoa genotypes. Under combined application of salinity and As, Na+ concentration was increased whereas As content was decreased in plant tissues. Quinoa genotype A7 was more tolerant than Vikinga against salinity, As and their combination perhaps because of less uptake of toxic ions and higher activities of antioxidant enzymes (SOD, CAT, POD). Bioconcentration factor (BCF), translocation factor (TF) and tolerance index (TI) indicated that genotype A7 can be successfully employed for phytostabilization of As contaminated saline soils.
Assuntos
Adaptação Fisiológica/efeitos dos fármacos , Arsênio/toxicidade , Chenopodium quinoa/efeitos dos fármacos , Estresse Oxidativo/efeitos dos fármacos , Poluentes do Solo/toxicidade , Solo/química , Adaptação Fisiológica/genética , Antioxidantes/metabolismo , Chenopodium quinoa/genética , Chenopodium quinoa/metabolismo , Clorofila/metabolismo , Genótipo , Íons , Estresse Oxidativo/genética , Salinidade , Sódio/metabolismo , Cloreto de Sódio/farmacologiaRESUMO
Heavy metals contamination of soil especially with cadmium (Cd) is a serious environmental concern in the current industrial era. Biochar serves as an excellent ameliorating agent depending upon its properties and application rates. In the pot scale study, effect of acid treated (AWSB) and untreated wheat straw biochar (WSB) was studied on physiology, grain yield, Cd accumulation, and tolerance of quinoa with possible health risks. Different levels of Cd (0, 25, 50 and 75 mg kg-1), AWSB and WSB (1% and 2% (w/w)) were applied in soil. Accumulation of Cd in control plant tissues led to oxidative stress which was shown in terms of increased lipid peroxidation. While biochar application relieved the oxidative damage as confirmed by the low production of H2O2 and TBARS contents. Application of AWSB improved plant growth, pigment contents and gas exchange attributes by limiting the accumulation of Cd in root, shoot and grain of quinoa. Results revealed a significant improvement in the activity of superoxide (SOD), catalase (CAT), ascorbate peroxidase (APX) and peroxidase (POD) with biochar at elevated levels of Cd in soil. Target Hazard Quotient (THQ) remained < 1 in the quinoa grains with WSB and AWSB under Cd stress. These results revealed that AWSB most effectively alleviated Cd toxicity in quinoa thereby decreasing Cd accumulation and regulation of Cd induced oxidative stress triggered by the antioxidant enzymatic system.
Assuntos
Ácidos/química , Cádmio/metabolismo , Carvão Vegetal/farmacologia , Chenopodium quinoa/efeitos dos fármacos , Poluentes do Solo/metabolismo , Antioxidantes/metabolismo , Cádmio/análise , Carvão Vegetal/química , Chenopodium quinoa/crescimento & desenvolvimento , Chenopodium quinoa/metabolismo , Grão Comestível/efeitos dos fármacos , Grão Comestível/crescimento & desenvolvimento , Grão Comestível/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Solo/química , Poluentes do Solo/análise , Triticum/químicaRESUMO
Soil contamination with metallic nanoparticles is increasing due to their increased use in industrial and domestic settings. These nanoparticles are potentially toxic to soil microbes and may affect their associated functions and thereby the nutrient cycling in agro-ecosystems. This study examined the effects of iron oxides nanoparticles (IONPs) on carbon (C) and nitrogen (N) dynamics of poultry (PM) and farmyard manure (FYM) in the soil. The application of IONPs increased iron content in soil microbial biomass, which reflected its consumption by the microbes. As a result, colony-forming units of bacteria and fungi reduced considerably. Such observations lead to a decrease in CO2 emission from PM and FYM by 27 and 28%, respectively. The respective decrease fractions in the case of N mineralization were 24 and 35%. Consequently, soil mineral N content was reduced by 16% from PM and 12% from FYM as compared to their sole application without IONPs. Spinach dry matter yield and apparent N recovery were increased by the use of organic waste (FYM, PM). The use of IONPs significantly reduced the plant N recovery fraction by 26 and 24% (P < 0.05) from PM and FYM, respectively. All the results mentioned above lead us to conclude that IONPs are toxic to soil microbes and affect their function i.e., carbon and N mineralization of applied manure, and thereby the on-farm N cycling from the manure-soil-plant continuum.
Assuntos
Compostos Férricos/toxicidade , Nanopartículas/toxicidade , Ciclo do Nitrogênio , Animais , Biomassa , Carbono , Ecossistema , Fertilizantes , Esterco/microbiologia , Nitrogênio , Aves Domésticas , Solo , Microbiologia do SoloRESUMO
The biochemical/physiological variations in plant responses to heavy metals stress govern plant's ability to phytoremediate/tolerate metals. So, the comparative effects of different types of heavy metals on various plant responses can better elucidate the mechanisms of metal toxicity and detoxification. This study compared the physiological modifications, photosynthetic performance and detoxification potential of Brassica oleracea under different levels of chromium (Cr), nickel (Ni) and selenium (Se). All the heavy metals induced a severe phytotoxicity to B. oleracea in terms of chlorophyll contents, Ni being the most toxic (76% decrease). Brassica oleracea showed high lipid oxidation: 87% and 273%, respectively in leaves and roots. Furthermore, all the metals increased the activities of catalase and peroxidase, while decreased superoxide dismutase and ascorbate peroxidase. Interestingly, heavy metals decreased hydrogen peroxide contents perhaps due to their possible transformation to another form of reactive oxygen species such as hydroxyl radical. Among the three metals, Ni was more phytotoxic than Cr and Se. Moreover, the phytoremediation/tolerance potential of B. oleracea to Ni, Cr and Se stress varied with the type of metal, their applied levels, response variables and plant organ type (root/shoot). The multivariate analysis separated different plant response variables and heavy metal treatments into different groups based on their correlations.
Assuntos
Brassica , Metais Pesados , Poluentes do Solo , Antioxidantes , Biodegradação Ambiental , Biomarcadores , Análise Multivariada , Estresse OxidativoRESUMO
Arsenic (As) is a potentially toxic and carcinogenic metalloid. It has gained considerable attention owing to its high ecotoxic nature. High As contamination of groundwater in scattered areas is the current status of Pakistan. A number of assessments exist for the As contamination of the drinking water in District Vehari, Pakistan. However, there is scarcity of data about As contents in drinking water of health facilities and healthcare centers in District Vehari. The current study, therefore, was carried out to assess As concentration and associated health risk in the drinking water of three health facilities (district head quarter, rural health center and basic health unit) of District Vehari. In total, 75 drinking water samples were collected and examined for As contents in addition to physicochemical characteristics such as electrical conductivity, pH, total soluble salts, chloride, carbonates, bicarbonates, fluoride, nitrate, nitrite, calcium, magnesium and iron. Results indicated that the groundwater samples are not fully fit for drinking purposes with respect to several parameters, especially the alarming levels of As. It was found that 52% of drinking water samples of Vehari have As concentration greater than WHO permissible limit (10 µg/L) and 17% have As concentration greater than Pak-EPA permissible limit (50 µg/L). The risk assessment parameters (average daily dose, hazard quotient and carcinogenic risk) showed possible carcinogenic and non-carcinogenic risks associated with ingestion of As-contaminated drinking water in the healthcare facilities. Based on the results of the present study, it is anticipated that hospitals and health centers in Vehari are in need of safe drinking water. The implementation of national/international standards for drinking water in healthcare facilities is a necessary measure to improve the services and increase local access to safe drinking water. The same may be applied to other public offices and organizations such as educational institutes and district government offices.
Assuntos
Arsênio/análise , Água Potável/análise , Medição de Risco/métodos , Poluentes Químicos da Água/análise , Carcinógenos/análise , Carcinógenos/toxicidade , Água Potável/efeitos adversos , Água Potável/química , Monitoramento Ambiental , Fluoretos/análise , Água Subterrânea/análise , Água Subterrânea/química , Instalações de Saúde , Humanos , Ferro/análise , Nitratos/análise , Nitritos/análise , Paquistão , Poluentes Químicos da Água/toxicidadeRESUMO
In peri-urban areas of district Vehari, farmers are using untreated city wastewater for crop irrigation owing to the scarcity of good-quality irrigation water. This practice may pose severe environmental and health issues to local inhabitants attributed to the high levels of potentially toxic metals in wastewater. The present study evaluated the potential impacts of wastewater irrigation on metals (Cd, Cr, Cu, Fe, Ni, Mn, Pb and Zn) build-up in the soil-plant continuum and associated health risks. In this study, wastewater (n = 17), soil (n = 108) and plant (n = 65) samples were collected from 15 peri-urban sites of three tehsils of district Vehari. Results showed that the mean concentration (mg/L) of Cd (0.02), Mn (0.25) and Fe (1.57) in wastewater samples was higher than their respective threshold values. Similarly, Cd, Mn and Fe concentration in soil was beyond the permissible limits of agricultural soil receiving wastewater irrigation. However, plants showed high accumulation of Pb, Cr and Fe than their respective limits depending on the vegetable/crop species. The health risk parameters showed that Pb and Cd are the major toxic chemical substances to human health, and the daily intake of crop plants can pose a potential health threat due to wastewater-irrigated crop consumption. Results highlighted the necessity of wastewater pretreatment to avoid the soil and vegetable contamination by wastewater irrigation and to reduce the associated health risks.