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1.
Environ Sci Pollut Res Int ; 31(16): 23591-23609, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38418792

ABSTRACT

Arsenic (As)-induced environmental pollution and associated health risks are recognized on a global level. Here the impact of cotton shells derived biochar (BC) and silicon-nanoparticles loaded biochar (nano-Si-BC) was explored on soil As immobilization and its phytotoxicity in barley plants in a greenhouse study. The barley plants were grown in a sandy loam soil with varying concentrations of BC and nano-Si-BC (0, 1, and 2%), along with different levels of As (0, 5, 10, and 20 mg kg-1). The FTIR spectroscopy, SEM-EDX, and XRD were used to characterize BC and nano-Si-BC. Results revealed that As treatment had a negative impact on barley plant development, grain yield, physiology, and anti-oxidative response. However, the addition of nano-Si-BC led to a 71% reduction in shoot As concentration compared to the control with 20 mg kg-1 of As, while BC alone resulted in a 51% decline. Furthermore, the 2% nano-Si-BC increased grain yield by 94% compared to control and 28% compared to BC. The addition of 2% nano-Si-BC to As-contaminated soil reduced oxidative stress (34% H2O2 and 48% MDA content) and enhanced plant As tolerance (92% peroxidase and 46% Ascorbate peroxidase activity). The chlorophyll concentration in barley plants decreased due to oxidative stress. Additionally, the incorporation of 2% nano-Si-BC resulted in a 76% reduction in water soluble and NaHCO3 extractable As. It is concluded that the use of BC or nano-Si-BC in As contaminated soil for barley resulted in a low human health risk (HQ < 1), as it effectively immobilized As and promoted higher activity of antioxidants.


Subject(s)
Arsenic , Hordeum , Nanoparticles , Soil Pollutants , Humans , Silicon/analysis , Arsenic/analysis , Hordeum/metabolism , Soil/chemistry , Hydrogen Peroxide/analysis , Antioxidants/metabolism , Charcoal/chemistry , Edible Grain/chemistry , Soil Pollutants/analysis
2.
Int J Phytoremediation ; 26(6): 975-992, 2024.
Article in English | MEDLINE | ID: mdl-37968930

ABSTRACT

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.


Subject(s)
Azo Compounds , Nanocomposites , Water Pollutants, Chemical , Congo Red , Coloring Agents/chemistry , Zea mays , Biomass , Biodegradation, Environmental , Adsorption , Ions , Water , Nanocomposites/chemistry , Magnetic Phenomena , Kinetics , Water Pollutants, Chemical/chemistry , Hydrogen-Ion Concentration
4.
Environ Sci Pollut Res Int ; 30(44): 99284-99297, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37632618

ABSTRACT

Food waste is one of the major sustainability issues that need to be addressed due to its negative impacts on the economy, environment, and food security. To develop food waste reduction policies on regional and global level, it is mandatory to have a clear understanding of the various factors prompting food waste at household level and the extent of the economic losses incurred by food waste. Reducing food waste can decrease household expenditure on food, freeing resources for health, education, and well-being. The current study was aimed to (1) examine the food waste behavior of the respondents and to (2) determine the level of monetary losses from food waste. To address these objectives, a questionnaire survey and sample of food waste generated during 24 h were collected from 51 households in Tehsil Kahror Pakka, District Lodhran, Punjab, Pakistan. The survey focus was on levels of food waste and respondents' knowledge and behaviors about food waste. Economic estimation of food waste was also done. In the survey, respondents from both high- and low-income households revealed that their fruit and vegetables (31%; 32%) and peel and scrap (53%; 48%) losses were higher while egg losses (4%; 4%) were lower among various food waste categories. Wanting to eat fresh food and having no time to save food were the reasons for food waste. Monetary losses from food waste (US$ 12.8/Rs. 3677.01 per capita per annum) were higher in high-income households compared to low-income households.


Subject(s)
Food , Refuse Disposal , Pakistan , Family Characteristics , Vegetables , Poverty , Food Supply
5.
Environ Geochem Health ; 45(12): 8989-9002, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37154973

ABSTRACT

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.


Subject(s)
Arsenic , Water Pollutants, Chemical , Copper , Water/chemistry , Iron/chemistry , Kinetics , Adsorption , Water Pollutants, Chemical/analysis , Hydrogen-Ion Concentration
6.
Int J Phytoremediation ; 25(13): 1830-1843, 2023.
Article in English | MEDLINE | ID: mdl-37088874

ABSTRACT

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.


Subject(s)
Chenopodium quinoa , Helianthus , Soil Pollutants , Humans , Nickel/pharmacology , Helianthus/metabolism , Reactive Oxygen Species/pharmacology , Chenopodium quinoa/metabolism , Iron , Biodegradation, Environmental , Oxidative Stress , Superoxide Dismutase/metabolism , Superoxide Dismutase/pharmacology , Soil Pollutants/analysis , Antioxidants/metabolism , Antioxidants/pharmacology
7.
Plants (Basel) ; 12(4)2023 Feb 08.
Article in English | MEDLINE | ID: mdl-36840121

ABSTRACT

Soil salinity, drought, and increasing temperatures are serious environmental issues that drastically reduce crop productivity worldwide. Quinoa (Chenopodium quinoa Willd) is an important crop for food security under the changing climate. This study examined the physio-biochemical responses, plant growth, and grain yield of four quinoa genotypes (A7, Titicaca, Vikinga, and Puno) grown in pots containing normal (non-saline) or salt-affected soil exposed to drought and elevated-temperature treatments. Combinations of drought, salinity, and high-temperature stress decreased plant growth and yield more than the individual stresses. The combined drought, salinity, and heat stress treatment decreased the shoot biomass of A7, Puno, Titicaca, and Vikinga by 27, 36, 41, and 50%, respectively, compared to that of control plants. Similar trends were observed for grain yield, chlorophyll contents, and stomatal conductance. The combined application of these three stresses increased Na concentrations but decreased K concentrations in roots and shoots relative to control. Moreover, in the combined salinity, drought, and high-temperature treatment, A7, Puno, Titicaca, and Vikinga had 7.3-, 6.9-, 8-, and 12.6-fold higher hydrogen peroxide contents than control plants. All four quinoa genotypes increased antioxidant enzyme activities (CAT, SOD, and POD) to overcome oxidative stress. Despite A7 producing the highest biomass under stress, it did not translate into increased grain production. We conclude that Puno and Titicaca are more tolerant than Vikinga for cultivation in salt-affected soils prone to drought and heat stress.

8.
Environ Geochem Health ; 45(1): 227-246, 2023 Jan.
Article in English | MEDLINE | ID: mdl-35934744

ABSTRACT

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.


Subject(s)
Solanum lycopersicum , Solanum , Antioxidants , Nickel/toxicity , Salt Stress , Ions , Homeostasis , Soil , Seedlings
9.
Erwerbsobstbau (Berl) ; : 1-10, 2023 Jan 05.
Article in English | MEDLINE | ID: mdl-38625261

ABSTRACT

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 15 days, fruit size (62.40 mm) and peel (35.15%) and lower mass loss (4.94%), juice (32.19%) and electrical conductivity (EC) (2.06 S/m) as compared to ambient conditions in laboratory during 25 days of storage. In ZECC, only EC was positively correlated (r = 0.57) with mass loss, whereas at room temperature EC (r = 0.76), total soluble solids (TSS) (r = 0.60) and fruit internal temperature (r = 0.64) were positively and peel (%) (r = -0.52) and fruit diameter (r = -0.49) were negatively correlated with mass loss. Correlation of combined storage conditions revealed that EC (r = 0.47) and TSS (r = 0.50) were positively and peel (%) (r = -0.77) and fruit diameter (r = -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 100 mL-1), acidity (%), and fruit diameter (mm).

10.
Sci Rep ; 12(1): 17218, 2022 10 14.
Article in English | MEDLINE | ID: mdl-36241656

ABSTRACT

To delineate the genetic bases of primary congenital glaucoma (PCG), we ascertained a large cohort consisting of 48 consanguineous families. Of these, we previously reported 26 families with mutations in CYP1B1 and six families with LTBP2, whereas the genetic bases responsible for PCG in 16 families remained elusive. We employed next-generation whole exome sequencing to delineate the genetic basis of PCG in four of these 16 familial cases. Exclusion of linkage to reported PCG loci was established followed by next-generation whole exome sequencing, which was performed on 10 affected individuals manifesting cardinal systems of PCG belonging to four unresolved families along with four control samples consisting of genomic DNAs of individuals harboring mutations in CYP1B1 and LTBP2. The analyses of sequencing datasets failed to identify potential causal alleles in the 10 exomes whereas c.1169G > A (p. Arg390His) in CYP1B1 and c.3427delC (p.Gln1143Argfs*35) in LTBP2 were identified in the control samples. Taken together, next-generation whole exome sequencing failed to delineate the genetic basis of PCG in familial cases excluded from mutations in CYP1B1 and LTBP2. These data strengthen the notion that compound heterozygous coding variants or non-coding variants might contribute to PCG.


Subject(s)
Exome , Glaucoma , Consanguinity , Exome/genetics , Glaucoma/congenital , Glaucoma/genetics , Humans , Latent TGF-beta Binding Proteins/genetics , Mutation , Exome Sequencing
11.
Hum Genome Var ; 9(1): 31, 2022 Sep 08.
Article in English | MEDLINE | ID: mdl-36075891

ABSTRACT

Here we report a consanguineous Pakistani family with multiple affected individuals with autosomal recessive congenital cataract (arCC). Exclusion analysis established linkage to chromosome 22q, and Sanger sequencing coupled with PCR-based chromosome walking identified a large homozygous genomic deletion. Our data suggest that this deletion leads to CRYBB2-CRYBB2P1 fusion, consisting of exons 1-5 of CRYBB2 and exon 6 of CRYBB2P1, the latter of which harbors the c.463 C > T (p.Gln155*) mutation, and is responsible for arCC.

12.
PLoS One ; 17(8): e0273685, 2022.
Article in English | MEDLINE | ID: mdl-36037197

ABSTRACT

AIM: To identify the molecular basis of Congenital Hereditary Endothelial Dystrophy CHED caused by mutations in SLC4A11, in the consanguineous Pakistani families. METHODS: A total of 7 consanguineous families affected with Congenital Hereditary Endothelial Dystrophy were diagnosed and registered with the help of ophthalmologists. Blood samples were collected from affected and unaffected members of the enrolled families. Mutational analysis was carried out by DNA sequencing using both Sanger and Whole Exome Sequencing (WES). Probands of each pedigree from the 7 families were used for WES. Results were analyzed with the help of different bioinformatics tools. RESULTS: The sequencing results demonstrated three known homozygous mutations in gene SLC4A11 in probands of 7 families. These mutations p.Glu675Ala, p.Val824Met, and p.Arg158fs include 2 missense and 1 frameshift mutation. The mutations result in amino acids that were highly conserved in SLC4A11 across different species. The mutations were segregated with the disease phenotype in the families. CONCLUSION: This study reports 3 mutations in 7 families. One of the pathogenic mutations (p.R158fs) was identified for the first time in the Pakistani population. However, two mutations (p.Glu675Ala, p.Val824Met) were previously reported in two and one Pakistani family respectively. As these mutations segregate with the disease phenotype and bioinformatics tool also liable them as pathogenic, they are deemed as probable cause of underlying disease.


Subject(s)
Corneal Dystrophies, Hereditary , Symporters , Anion Transport Proteins/genetics , Anion Transport Proteins/metabolism , Antiporters/metabolism , Borates/metabolism , Corneal Dystrophies, Hereditary/genetics , DNA Mutational Analysis , Humans , Mutation , Pakistan , Pedigree , Sodium/metabolism , Symporters/genetics
13.
Front Genet ; 13: 804924, 2022.
Article in English | MEDLINE | ID: mdl-35391798

ABSTRACT

Background: A CLCC1 c. 75C > A (p.D25E) mutation has been associated with autosomal recessive pigmentosa in patients in and from Pakistan. CLCC1 is ubiquitously expressed, and knockout models of this gene in zebrafish and mice are lethal in the embryonic period, suggesting that possible retinitis pigmentosa mutations in this gene might be limited to those leaving partial activity. In agreement with this hypothesis, the mutation is the only CLCC1 mutation associated with retinitis pigmentosa to date, and all identified patients with this mutation share a common SNP haplotype surrounding the mutation, suggesting a common founder. Methods: SNPs were genotyped by a combination of WGS and Sanger sequencing. The original founder haplotype, and recombination pathways were delineated by examination to minimize recombination events. Mutation age was estimated by four methods including an explicit solution, an iterative approach, a Bayesian approach and an approach based solely on ancestral segment lengths using high density SNP data. Results: All members of each of the nine families studied shared a single autozygous SNP haplotype for the CLCC1 region ranging from approximately 1-3.5 Mb in size. The haplotypes shared by the families could be derived from a single putative ancestral haplotype with at most two recombination events. Based on the haplotype and Gamma analysis, the estimated age of the founding mutation varied from 79 to 196 generations, or approximately 2,000-5,000 years, depending on the markers used in the estimate. The DMLE (Bayesian) estimates ranged from 2,160 generations assuming a population growth rate of 0-309 generations assuming a population growth rate of 2% with broad 95% confidence intervals. Conclusion: These results provide insight into the origin of the CLCC1 mutation in the Pakistan population. This mutation is estimated to have occurred 2000-5,000 years ago and has been transmitted to affected families of Pakistani origin in geographically dispersed locations around the world. This is the only mutation in CLCC1 identified to date, suggesting that the CLCC1 gene is under a high degree of constraint, probably imposed by functional requirements for this gene during embryonic development.

14.
Environ Geochem Health ; 44(4): 1409-1424, 2022 Apr.
Article in English | MEDLINE | ID: mdl-34988723

ABSTRACT

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.


Subject(s)
Chenopodium quinoa , Biodegradation, Environmental , Chenopodium quinoa/genetics , Hydrogen Peroxide , Nickel/toxicity , Salinity
15.
Environ Geochem Health ; 44(5): 1487-1500, 2022 May.
Article in English | MEDLINE | ID: mdl-33528680

ABSTRACT

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.


Subject(s)
Chenopodium quinoa , Soil Pollutants , Biodegradation, Environmental , Cadmium/analysis , Chenopodium quinoa/metabolism , Humans , Lead/metabolism , Lead/toxicity , Salt-Tolerant Plants/metabolism , Soil , Soil Pollutants/analysis
16.
Ophthalmic Res ; 65(1): 104-110, 2022.
Article in English | MEDLINE | ID: mdl-34781300

ABSTRACT

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.


Subject(s)
Electroretinography , Night Blindness , Consanguinity , Eye Diseases, Hereditary , Genetic Diseases, X-Linked , Humans , Mutation , Myopia , Night Blindness/genetics , Pakistan , Pedigree
17.
Chemosphere ; 289: 133203, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34896172

ABSTRACT

Use of untreated municipal wastewater (WW) contains toxic trace elements that pose a serious threat to the soil-plant-human continuum. The use of biochar (BC) is a promising approach to minimize trace element induced toxicity in the ecosystem. Therefore, the present study aims to evaluate the efficacy of BC derived from wheat straw and iron oxide nanoparticles doped biochar (IO-BC) to reduce trace element buildup in soil and plants that consequently affect tomato plant growth and physiological activity under WW irrigation. The BC and IO-BC were applied at four levels (0, 0.5, 1, and 1.5%) in WW irrigated soils. The results indicated that the addition of WW + BC and WW + IO-BC resulted in significant reduction in trace element mobility in soil. Interestingly, the application of WW + IO-BC (1.5%) was more effective in reducing trace element mobility and bioavailability in soil by 78% (As), 58% (Cr), 46% (Pb) and 50% (Cd) compared to WW irrigation, and thus reduced trace element accumulation and toxicity in plants. Results revealed that WW irrigation negatively affected tomato growth, fruit yield, physiology and antioxidative response. Addition of WW + BC and WW + IO-BC ameliorated the oxidative stress (up to 65% and 58% in H2O2 and MDA) and increased plant tolerance (up to 49% in POD and APX activity). The risk indices also showed minimum human health risk (H1 < 1) from tomato after the addition of BC or IO-BC in WW irrigated soils. It is concluded that IO-BC addition in WW irrigated soil could assist in reducing trace elements accumulation and toxicity in tomato and associated human health risks.


Subject(s)
Soil Pollutants , Solanum lycopersicum , Trace Elements , Charcoal , Ecosystem , Humans , Hydrogen Peroxide , Magnetic Iron Oxide Nanoparticles , Soil , Soil Pollutants/analysis , Soil Pollutants/toxicity
18.
Environ Pollut ; 287: 117348, 2021 Oct 15.
Article in English | MEDLINE | ID: mdl-34020256

ABSTRACT

Arsenic (As) is a toxic metalloid and its widespread contamination in agricultural soils along with soil salinization has become a serious concern for human health and food security. In the present study, the effect of cotton shell biochar (CSBC) in decreasing As-induced phytotoxicity and human health risks in quinoa (Chenopodium quinoa Willd.) grown on As-spiked saline and non-saline soils was evaluated. Quinoa plants were grown on As contaminated (0, 15 and 30 mg kg-1) saline and non-saline soils amended with 0, 1 and 2% CSBC. Results showed that plant growth, grain yield, stomatal conductance and chlorophyll contents of quinoa showed more decline on As contaminated saline soil than non-saline soil. The application of 2% CSBC particularly enhanced plant growth, leaf relative water contents, stomatal conductance, pigment contents and limited the uptake of As and Na as compared to soil without CSBC. Salinity in combination with As trigged the production of H2O2 and caused lipid peroxidation of cell membranes. Biochar ameliorated the oxidative stress by increasing the activities of antioxidant enzymes (SOD, POD, CAT). Carcinogenic and non-carcinogenic human health risks were greatly decreased in the presence of biochar. Application of 2% CSBC showed promising results in reducing human health risks and As toxicity in quinoa grown on As contaminated non-saline and saline soils. Further research is needed to evaluate the role of biochar in minimizing As accumulation in other crops on normal as well as salt affected soils under field conditions.


Subject(s)
Arsenic , Chenopodium quinoa , Soil Pollutants , Arsenic/toxicity , Charcoal , Humans , Hydrogen Peroxide , Oxidative Stress , Soil , Soil Pollutants/toxicity
19.
Environ Geochem Health ; 43(12): 5195-5209, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34009496

ABSTRACT

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.


Subject(s)
Arsenic , Groundwater , Water Pollutants, Chemical , Arsenic/analysis , Arsenic/toxicity , Environmental Monitoring , Humans , Pakistan , Rivers , Water Pollutants, Chemical/analysis , Water Pollutants, Chemical/toxicity
20.
Hum Genet ; 140(4): 649-666, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33389129

ABSTRACT

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.


Subject(s)
Cataract/genetics , Mutation, Missense , Peroxisomal Targeting Signals , Peroxisome-Targeting Signal 1 Receptor/genetics , Peroxisomes/metabolism , ATP-Binding Cassette Transporters/metabolism , Animals , Biological Transport, Active , Cataract/congenital , Cataract/metabolism , Chromosomes, Human, Pair 12 , Consanguinity , Female , Genetic Linkage , Humans , Lens, Crystalline/metabolism , Male , Mice , Mice, Knockout , Peroxisome-Targeting Signal 1 Receptor/metabolism , Sequestosome-1 Protein/metabolism , Exome Sequencing
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