RESUMO
This study investigates the impact of Glomus mosseae on heavy metal(loid) (HM) uptake efficiency of pea (Pisum sativum L.) plants along with physiological and biochemical parameters. Plants were grown in soil spiked with HMs (Pb and As: 50 and 100 mg kg-1; Cd: 25 and 50 mg kg-1) and a multi-metal(loid) (Mm: Pb + Cd + As) combination, inoculated/non-inoculated with G. mosseae. A dose-dependent increase in HM accumulation was observed in plants upon harvest at 60 days. Plant growth, concentration of photosynthetic pigments, total nitrogen, and carbohydrates reduced, whereas enzymatic [catalase (CAT), superoxide dismutase (SOD), and ascorbate peroxidase (APX)] and non-enzymatic (proline and total phenolics) antioxidants increased upon HM stress. Inoculation with G. mosseae led to an increase in plant growth, concentration of photosynthetic pigments, carbohydrate, nitrogen, and defence antioxidants (whereas proline decreased) which was statistically significant (p ≤ 0.05). This symbiosis can be applied for onsite remediation of Pb and Cd contaminated soil by virtue of accumulation efficiency and adaptive response of pea plants inoculated with G. mosseae. Since the amount of HMs in edible parts exceeded the maximum permissible limits recommended by FAO/WHO, pea must not be cultivated in HM-contaminated soil for agricultural purpose due to associated toxicity. Novelty statement To our knowledge, phytoremediation potential of Pea in synchronization with Glomus mosseae has not been evaluated previously. This study highlights: ⢠Pea-AMF symbiosis can be applied for Pb and/or Cd phytoremediation. ⢠Target Hazard Quotient >1 for Pb, Cd and As; caution to food chain exposure required. ⢠Nonenzymatic (proline, TPC) and enzymatic (CAT, SOD, APX) antioxidants play a key role in ROS detoxification.
Assuntos
Arsênio , Poluentes do Solo , Biodegradação Ambiental , Cádmio , Fungos , Chumbo , Pisum sativum , Raízes de Plantas/química , Solo , Poluentes do Solo/análise , SimbioseRESUMO
A pot study was conducted to assess the phytoremediation potential of Spinach plants along with their physiological and biochemical response when grown in soil contaminated with heavy metal(loid)s (HMs). Plants were grown under different doses of Pb, Cd and As; and their metal(loid) accumulation efficiency was studied upon harvest; expressed in terms of bioabsorption coefficient (BAC), bioconcentration factor (BCF) and translocation factor (TF). Results showed significant (pâ¯≤â¯0.05) difference in physiological and biochemical mechanisms of plants as detected through decrease in concentration of cellular constituents (pigments, carbohydrates, total nitrogen content); and increase in antioxidants (both enzymatic and non-enzymatic). Despite of accumulating high amount of HMs in tissues, no visible signs of toxicity were seen; and hence the efficient survival and defense mechanism shown by spinach plants conclude that they are a viable option to be used for phytoremediation of sites contaminated with Cd and Pb. Since the content of Cd and Pb in edible part was higher than safe limits prescribed by USEPA, the present investigation also highlights the ecological hazards that may result upon cultivation of spinach in contaminated soil for agricultural purpose; or its accidental exposure to food chain when grown for phytoremediation.
Assuntos
Antioxidantes/metabolismo , Metaloides/toxicidade , Metais Pesados/toxicidade , Poluentes do Solo/toxicidade , Spinacia oleracea/efeitos dos fármacos , Agricultura , Biodegradação Ambiental , Ecologia , Metaloides/análise , Metais Pesados/análise , Solo/química , Poluentes do Solo/análise , Spinacia oleracea/crescimento & desenvolvimento , Spinacia oleracea/metabolismoRESUMO
A study was conducted to determine the effect of ethylenediaminetetraacetic acid (EDTA) on phytoextraction potential of radish and cabbage. Plant biomass, photosynthetic pigments, proline and phenolics were significantly affected by the accumulation of heavy metals (HM). The metal uptake potential was increased significantly by the application of EDTA. Target hazard quotient (THQ) associated with exposure of these contaminants to food chain was calculated. Agronomic interventions to increase mineral levels in crops often increases the leaf concentrations only, the mineral concentration in edible portions are not increased at desired level due to low mobility of Zn in phloem. Since the leaves of both these crops are edible and a component of staple vegetarian diet, biofortification through Zn present in soil and its solubilization and mobilization through chelators can be implemented. However in no such instance these crops should be consumed when grown on Pb contaminated soil due to associated hazards.
Assuntos
Brassica/metabolismo , Ácido Edético/química , Inocuidade dos Alimentos , Metais Pesados/metabolismo , Raphanus/efeitos dos fármacos , Raphanus/metabolismo , Poluentes do Solo/metabolismo , Biodegradação Ambiental , Biomassa , Brassica/efeitos dos fármacos , Metais Pesados/toxicidade , Medição de Risco , Solo/química , Poluentes do Solo/toxicidadeRESUMO
Arbuscular mycorrhizal fungi (AMF) aids in plant establishment at heavy metal(loid) (HM) contaminated soils, strengthening plant defense system along with promoting growth. A pot experiment was carried out to evaluate the effect of AMF on eggplants grown under HM stress. Further, the potential health risks of HM exposure to the humans via dietary intake of eggplant were also estimated. Results showed that AMF application improved growth, biomass and antioxidative defense response of plants against HM stress. Significant difference (p ≤ 0.001) in parameters under study was found on increasing metal dose and on application of AMF. Among metal(loid)s maximum uptake was recorded for Pb (29.64mgkg-1 in roots; 23.08mgkg-1 in shoot) followed by As (3.84mgkg-1 in roots; 8.20mgkg-1 in shoot) and, Cd (0.96mgkg-1 in roots; 2.12mgkg-1 in shoot). Based on the accumulation of HM in edible part, Hazard Quotient (HQ) was calculated. HQ was found to be > 1 for Pb, which highlights the risks associated with consumption of Eggplants grown on Pb contaminated soil. However this potential, which was further enhanced by application of AMF, can be harnessed for on-site remediation of Pb contaminated soils. The content of Cd and As in the edible part was found to be within safe limits (HQ < 1) when compared to chronic reference dose stated by USEPA.
Assuntos
Inocuidade dos Alimentos , Metais Pesados/metabolismo , Micorrizas/fisiologia , Poluentes do Solo/metabolismo , Solanum melongena/fisiologia , Biomassa , Recuperação e Remediação Ambiental , Metais Pesados/análise , Raízes de Plantas/crescimento & desenvolvimento , Raízes de Plantas/metabolismo , Medição de Risco , Solo/química , Poluentes do Solo/análise , Solanum melongena/química , Solanum melongena/microbiologiaRESUMO
In the present study, the phytoremedation potential along with growth, physiological and biochemical response of tomato (Solanum lycopersicum) was assessed under heavy metal(loid) (HM) and arbuscular mycorrhizal fungus (AMF) amendment. Effect of AMF on uptake and accumulation of metal(loid)s was assessed and accumulation characteristics were expressed in terms of bioabsorption coefficient (BAC), bioconcentration factor (BCF), translocation factor (TLF) and transfer factor (TF). Results showed that AMF-inoculated plants showed not only a better growth, chlorophyll content, strengthened non-enzymatic and enzymatic defense mechanism, but also accumulated higher concentration of metal(loid)s. The correlation between biochemical and physiological parameters was significant at 0.01 level. A significant difference (p ≤ 0.001) in antioxidant enzyme activity was found on increasing metal(loid) dose and application of AMF. The accumulation of Cd and Pb in edible part exceeded the chronic reference dose stated by USEPA. The target hazard quotient (THQ) was >1 for Cd and Pb, whereas <1 for As. The study shows that tomato has good potential as Cd and Pb phytoremediator, hence must not be consumed when grown on Cd or Pb contaminated sites.
Assuntos
Micorrizas , Poluentes do Solo/análise , Solanum lycopersicum , Antioxidantes , Biodegradação Ambiental , Raízes de PlantasRESUMO
Human activities such as mining have contributed substantially to the increase of metals in aquatic environments worldwide. These metals are bioaccumulated by aquatic organisms and can be biomagnified along trophic webs. The dispersal of contaminants from water to land has been little investigated, even though most aquatic invertebrates in streams have aerial stages. We used field and laboratory approaches to investigate the effects of arsenic pollution on stream invertebrate assemblages, and its bioaccumulation, biomagnification and trophic transfer from aquatic to terrestrial environments by emergent insects. We conducted the study in an arsenic-impacted stream (40µgL-1 As at the most polluted site) and a reference stream (0.3µgL-1 As). Invertebrate abundance and richness were lowest at the most impacted site. Arsenic in biofilm and in invertebrates increased with the arsenic content in the water. The highest arsenic accumulators were bryophytes (1760µgg-1), followed by the biofilm (449µgg-1) and shredder invertebrates (313µgg-1); predators had the lowest arsenic concentration. Insects emerging from water and spiders along streambanks sampled from the reference and the impacted stream did not differ in their body arsenic concentrations. In the laboratory, the shredder Sericostoma vittatum had reduced feeding rates when exposed to water from the impacted stream in comparison with the reference stream (15.6 vs. 19.0mg leaves mg body mass-1 day-1; p<0.05), but they grew faster in the polluted water (0.16±0.04% day-1vs. 0.05±0.01% day-1, p<0.05). S. vittatum exposed to contaminated stream water accumulated arsenic from food, not through contact with water. We concluded that although arsenic is bioaccumulated, mainly by food ingestion, it is not biomagnified through food webs and is not transported from the aquatic to terrestrial environment when insects leave the stream water.
Assuntos
Arsênio/metabolismo , Cadeia Alimentar , Invertebrados/metabolismo , Poluentes Químicos da Água/metabolismo , Animais , Briófitas/efeitos dos fármacos , Briófitas/metabolismo , Insetos/efeitos dos fármacos , Insetos/metabolismo , Invertebrados/efeitos dos fármacos , Metais/farmacologia , Mineração , Aranhas/efeitos dos fármacos , Aranhas/metabolismo , Água/farmacologiaRESUMO
Mitochondrial respiratory chain diseases are a heterogeneous group of pathologies caused by genetic alterations affecting mitochondrial energy production. Theoretically, this deficiency may lead to any symptoms, in any organ or tissue, at any age even before birth. The aim of our study was to identify the frequency and characterize antenatal manifestations identifying possible associations between mitochondrial disease and more specific and earlier manifestation. We retrospectively review the files of 44 paediatric subjects with genetic and biochemical alterations of respiratory chain identified in the first decade of life and compare data with a control group (n = 88). Our results show that maternal age was similar in both groups. The female gender was predominant in patients group. Gestational age at delivery was similar in both groups. Concerning birth weight, it was significantly lower (p = 0.001) in patients (2899.9 ± 538.3 vs. 3246.6 ± 460.2 g). Fifteen pregnancies of the patients group were considered abnormal. Our findings show that intrauterine growth restriction was the most frequent antenatal feature observed. Neonatal morbidity was significantly higher (fivefold) in patients (p < 0.001). The clinical findings are independent of the molecular defect type. Our results are preliminary and more studies are needed, in order to learn more about mitochondrial physiology and activity in embryological development for the assessment of mitochondrial disease progress in fetal life. However, the present work is a significant contribution, given the scarcity of information in this field.
Assuntos
Doenças Mitocondriais/complicações , Adulto , Peso ao Nascer , Feminino , Retardo do Crescimento Fetal/etiologia , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
Industrial metal-rich sludge can improve soil properties, but it is potentially toxic to soils and adjacent aquatic systems. The soil-sludge-water interactions influence metals bioavailability over time, a phenomenon mostly regulated by the still debatable "sludge physical protection" or "sludge delayed release" hypotheses. The present study aimed to investigate: (1) whether sludge increases soil aggregate stability against slaking, (2) which hypothesis mostly regulates metal release from soils to water and (3) the ecotoxicity of the metals released during soil slaking for aquatic organisms. Under a realistic field scale, soils amended with an industrial sludge or spiked with equivalent metal solutions (of Cr, Cu, Ni, Zn) were collected over three months to test soil aggregate stability, the ecotoxicity of the slaking water and metal contents in soil and water. The "sludge physical protection" was verified for all metals, though for Cu the "sludge delayed release" hypothesis appears plausible after three months. Soil amendment with sludge did not lead to effects on the growth of the microalga Raphidocelis subcapitata, contrarily to the observed for the metal-spiked soil. Criteria regulating soils sludge-amendment management should thus include doses not hazardous to biota, and not only metal threshold levels.
Assuntos
Metais Pesados , Poluentes do Solo , Solo , Metais Pesados/toxicidade , Metais Pesados/análise , Esgotos , Água , Poluentes do Solo/toxicidade , Poluentes do Solo/análiseRESUMO
Root and shoot samples of Prosopis juliflora were assessed for their heavy metal content to evaluate the species as a green solution to decontaminate soils contaminated with lead and cadmium. The highest uptake of both the metals was observed in plants from industrial sites. Sites with more anthropogenic disturbance exhibited reduced chlorophyll levels, stunted growth, delayed and shortened reproductive phase. The ratios of lead and cadmium in leaves to lead and cadmium in soil were in the range of 0.62-1.46 and 0.55-1.71, respectively. Strong correlation between the degree of contamination and concentrations of lead and cadmium in plant samples identifies P. juliflora as an effective heavy metal remediator coupled with environmental stress.
Assuntos
Cádmio/análise , Chumbo/análise , Folhas de Planta/metabolismo , Raízes de Plantas/metabolismo , Prosopis/metabolismo , Poluentes do Solo/análise , Biodegradação Ambiental , Cádmio/metabolismo , Chumbo/metabolismo , Folhas de Planta/química , Raízes de Plantas/química , Prosopis/química , Poluentes do Solo/metabolismoRESUMO
INTRODUCTION: Primary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing the disease, suggesting a genetic predisposition to the disease. MYOC was the first primary open-angle glaucoma-causing gene identified. This study aimed to identify sequence variations in the MYOC gene that may be responsible for the phenotype in a group of primary open-angle glaucoma patients from the Centre Region of Portugal. MATERIAL AND METHODS: The three coding exons and the proximal splicing junctions of the MYOC gene were studied using a PCR sequencing approach in a group of 99 primary open-angle glaucoma patients. RESULTS: The sequencing analysis enabled the identification of 20 variants, including four in the promoter region, seven in the introns and nine in exons one and three, of which four were missense variants. DISCUSSION: Initially, all four missense sequence variations identified were considered candidates to glaucoma causing disease mutations. However, after literature review, only variant c.1334C>T (Ala445Val) remained as likely responsible for mild late-onset normal tension glaucoma. CONCLUSION: This is the first study performed in a group of primary open-angle glaucoma patients from the Centre Region of Portugal, contributing to the identification of one genetic variant in the MYOC gene and reinforcing the hypothesis that normal tension glaucoma could be also due to MYOC gene mutations.
Introdução: O glaucoma primário de ângulo-aberto é o subtipo mais frequente de glaucoma. Os familiares de doentes com glaucoma primário de ângulo-aberto têm um risco maior de desenvolverem a doença, o que sugere uma predisposição genética para a doença. MYOC foi o primeiro gene causador de glaucoma primário de ângulo-aberto a ser identificado. Este estudo pretendeu identificar variações de sequência no gene MYOC que possam ser responsáveis pelo fenótipo num grupo de doentes com glaucoma primário de ângulo-aberto da Região Centro de Portugal. Material e Métodos: Os três exões codificantes e as regiões adjacentes do gene MYOC foram estudados utilizando o método de PCR-sequenciação num grupo de 99 doentes com glaucoma primário de ângulo aberto. Resultados: A análise de sequenciação permitiu identificar 20 variantes, incluindo quatro na região promotora, sete nos intrões e nove nos exões um e três, das quais quatro eram variantes missense. Discussão: Inicialmente, todas as quatro variações de sequência missense identificadas foram consideradas candidatas a mutações causadoras de glaucoma. No entanto, após análise da literatura, somente a variante c.1334C>T (Ala445Val) permaneceu como provável responsável pelo glaucoma de pressão normal de início tardio. Conclusão: Este é o primeiro estudo realizado num grupo de doentes com glaucoma primário de ângulo aberto da Região Centro de Portugal, contribuindo para a identificação de uma variante genética no gene MYOC e reforçando a hipótese de que o glaucoma de pressão normal também poderá ser causado por mutações no gene MYOC.
Assuntos
Glaucoma de Ângulo Aberto , Proteínas do Citoesqueleto/genética , Proteínas do Olho/genética , Glaucoma de Ângulo Aberto/genética , Glicoproteínas/genética , Humanos , Mutação , PortugalRESUMO
The presence of aquatic hyphomycetes has been reported for several heavy metal-contaminated waters. Tolerance probably is one adaptation to coping with heavy metals. To help clarify this issue strains of two species of aquatic hyphomycetes (Tricladium splendens Ingold and Varicosporium elodeae Kegel) were isolated from a reference stream and a stream contaminated with heavy metals and grown on malt extract agar prepared with reference and contaminated water to characterize colony morphology, growth rate, growth inhibition and interaction among species and strains. In V. elodeae the morphology of colonies differed between strains. Colony diameter increased linearly over time with growth rates being lower for strains isolated from contaminated than from reference streams (mostly for V. elodeae). Strains from the contaminated stream grew faster in medium prepared with contaminated water than in medium prepared with reference water, while for strains from the reference stream there was no significant difference in growth rates on the two media. In interacting isolates radial growth toward the opposing colony was generally lower than toward the dish edge. Percentage growth inhibition was higher for isolates in intraspecific interactions (13-37%) than in interspecific interactions (3-27%). However differences in growth inhibition experienced by interacting isolates were observed only in three cases out of 16. The difference between the percentage inhibition caused and experienced by a given isolate was highest in interactions involving isolates with distinct growth rates. Our results suggest that strains from the reference stream tolerate heavy metals while strains from the contaminated stream seem to be adapted to contaminated waters. We hypothesize that in natural environments fungal species-specific limits of tolerance to metal contamination might determine an abrupt or gradual response of the original fungal community to mine pollution giving origin to a poorer fungal community dominated by adapted strains with distinct functional efficiency.
Assuntos
Contaminação de Medicamentos/estatística & dados numéricos , Fungos/crescimento & desenvolvimento , Urânio/farmacologia , Drenagem , Poluição Ambiental , Fungos/classificação , Fungos/efeitos dos fármacos , Metais Pesados/farmacologia , Metais Pesados/toxicidade , Poluentes do Solo/análise , Especificidade da Espécie , Urânio/toxicidade , Poluentes Químicos da ÁguaRESUMO
The Mussulo lagoon is a coastal environment located near Luanda, one of the SW African cities that has been growing more rapidly during the last decades. Geochemical, mineralogical, and grain-size data obtained for the lagoon sediments are analyzed together, in order to establish the factors that control the distribution of some potentially toxic elements (PTEs). Sediments from northern location tend to be enriched in feldspar and, despite some variability in grain-size distributions, in fine-grained detrital minerals; southern lagoon sediments display very homogenous grain-size distribution and are enriched in minerals associated with salt precipitation (halite and gypsum). Multivariate statistics reveal a close link between some PTEs, namely Co, Hg, Ni, and Pb, for which an anthropogenic source can be postulated. On the other end, As seems to be associated with natural authigenic precipitation in southern lagoon sectors. Sediments enriched in clay also tend to yield more Fe, Mn, Zn, and Cu, but it is unclear whether their sources are natural or anthropogenic. Hazard indexes calculated for children are higher than 1 for As and Co, indicating potential non-carcinogenic risk. For the other elements, and for adults, there is no potential carcinogenic or non-carcinogenic risk.
Assuntos
Metais Pesados , Poluentes Químicos da Água , Angola , Criança , Cidades , Monitoramento Ambiental , Sedimentos Geológicos , HumanosRESUMO
Uranium mining is an environmental concern because of runoff and the potential for toxic effects on the biota. To investigate uranium toxicity to freshwater invertebrates, we conducted a 96-h acute toxicity test to determine lethal concentrations (testing concentrations up to 262â¯mgâ¯L-1) for three stream invertebrates: a shredder caddisfly, Schizopelex festiva Rambur (Trichoptera, Sericostomatidae); a detritivorous isopod, Proasellus sp. (Isopoda, Asellidae); and a scraper gastropod, Theodoxus fluviatilis (Gastropoda, Neritidae). Next, we ran a chronic-toxicity test with the most tolerant species (S. festiva) to assess if uranium concentrations found in some local streams (up to 25⯵gâ¯L-1) affect feeding, growth and respiration rates. Finally, we investigated whether S. festiva takes up uranium from the water and/or from ingested food. In the acute test, S. festiva survived in all uranium concentrations tested. LC50-96-h for Proasellus sp and T. fluviatilis were 142â¯mgâ¯L-1 and 24â¯mgâ¯L-1, respectively. Specimens of S. festiva exposed to 25⯵gâ¯L-1 had 47% reduced growth compared with specimens under control conditions (21.5⯱â¯2.9 vs. 40.6⯱â¯4.9⯵g of mass increase animal-1·day-1). Respiration rates (0.40⯱â¯0.03⯵g O2·h-1·mg animal-1) and consumption rates (0.54⯱â¯0.05⯵g⯵g animal-1·day-1; means⯱â¯SE) did not differ between treatments. Under laboratory conditions S. festiva accumulated uranium from both the water and the ingested food. Our results indicate that uranium can be less toxic than other metals or metalloids produced by mining activities. However, even at the low concentrations observed in streams affected by abandoned mines, uranium can impair physiological processes, is bioaccumulated, and is potentially transferred through food webs.
Assuntos
Organismos Aquáticos/fisiologia , Invertebrados/fisiologia , Testes de Toxicidade Crônica , Urânio/toxicidade , Poluentes Químicos da Água/toxicidade , Animais , Organismos Aquáticos/efeitos dos fármacos , Bioensaio , Cadeia Alimentar , Água Doce , Insetos , Invertebrados/efeitos dos fármacos , Isópodes , Mineração , Urânio/análise , Poluentes Químicos da Água/análiseRESUMO
Aquatic bryophytes can accumulate extremely high levels of chemical elements because of their unique morphology and physiology which is markedly different from vascular plants. Four aquatic mosses-Fontinalis squamosa, Brachythecium rivulare, Platyhypnidium riparioides, Thamnobryum alopecurum-and a freshwater red alga Lemanea fluviatilis along with water samples from the streams of Góis mine region in Central Portugal were analyzed for 46 elements. Despite being below detection levels in the water samples, the elements Zr, V, Cr, Mo, Ru, Os, Rh, Ir, Pt, Ag, Ge and Bi were obtained in the plant samples. The moss T. alopecurum had the highest mean concentrations of 19 elements followed by B. rivulare (15 elements). Maximum accumulation of Rb, Ta and Au, however, was seen in the alga L. fluviatilis. Bioconcentration factors > 106 were obtained for a few metals. The investigation confirms that aquatic bryophytes can be suitable for water quality biomonitoring and biogeochemical prospecting in fresh water bodies owing to their high accumulative capacity of multi-elements from their aquatic ambient.
Assuntos
Monitoramento Ambiental/métodos , Metais/farmacocinética , Plantas/metabolismo , Qualidade da Água , Briófitas/metabolismo , Água Doce/química , Metais/análise , Mineração , Portugal , Rodófitas/metabolismo , Rios/químicaRESUMO
Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the underlying pathogenic mechanism. This 62-year-old female first developed ptosis of the right eye at the age of 12 and subsequently the left eye at 45 years, and was found to have external ophthalmoplegia at the age of 55 years. Histopathological abnormalities were detected in the patient's muscle, including ragged-red fibres, a mosaic pattern of COX-deficient muscle fibres and combined deficiency of respiratory chain complexes I and IV. Genetic investigation revealed the "common deletion" in the patient's muscle and fibroblasts. Moreover, a novel, heteroplasmic mt-tRNASer(UCN) variant (m.7486G>A) in the anticodon loop was detected in muscle homogenate (50%), fibroblasts (11%) and blood (4%). Single-fibre analysis showed segregation with COX-deficient fibres for both genetic alterations. Assembly defects of mtDNA-encoded complexes were demonstrated in fibroblasts. Functional analyses showed significant bioenergetic dysfunction, reduction in respiration rate and ATP production and mitochondrial depolarization. Multilamellar bodies were detected by electron microscopy, suggesting disturbance in autophagy. In conclusion, we report a CPEO patient with two possible genetic origins, both segregating with biochemical and histochemical defect. The "common mtDNA deletion" is the most likely cause, yet the potential pathogenic effect of a novel mt-tRNASer(UCN) variant cannot be fully excluded.
Assuntos
DNA Mitocondrial/genética , Mutação/genética , Deleção de Sequência/genética , Succinato Desidrogenase/genética , Feminino , Humanos , Pessoa de Meia-Idade , Mitocôndrias/genética , Mitocôndrias/patologia , Fibras Musculares Esqueléticas/patologia , Músculo Esquelético/patologia , Succinato Desidrogenase/metabolismoRESUMO
This study examines the geochemical and mineralogical variations in the ferruginous mineralisations that crop out within Grotta della Monaca, which is considered to be the most striking and best known example of a prehistoric iron mine-cave from the southern Apennines (Calabria, Italy). Previous archaeological research identified three local and distinct ancient exploitation phases of these ferruginous mineralisations: (1) an Upper Palaeolithic phase; (2) a Late Neolithic phase; and (3) a post-Medieval phase. These materials, which have various forms of complex mineralogical admixtures and range in colour from yellow-orange to red and darker brown shades, mainly consist of iron oxides/hydroxides (essentially goethite and lepidocrocite), which are often mixed with subordinate and variable amounts of other matrix components (carbonates, sulphates, arsenates, silicates and organic matter). Such ferruginous mineralisations generally correspond to geochemically heterogeneous massive dyke/vein/mammillary/stratiform facies that are exposed within the local caves along open fractures and inclined bedding planes and that partially cover cave wall niches/notches/pockets and ceiling cupolas/holes. Selected samples/sub-samples are analysed through a multi-technique approach with a handheld portable X-ray Fluorescence, X-ray Diffraction, micro-Raman and Fourier Transform Infrared spectroscope (both conventional and attenuated total reflection), which is combined with subsequent multivariate statistical analysis of the elemental concentration data. The geochemical and mineralogical results are used to individualise similar compositional clusters. As expected, the identified groups, each of which has very specific geochemical-mineralogical "fingerprints" and spatial distributions, enable us to identify the sampled ferruginous mineralisations. These specific mineral resources can be compared to similar raw materials that are found in other neighbouring archaeological sites, with obvious implications toward understanding local exploitation strategies through time and the exchanges and kinship networks of these materials.
RESUMO
Mitochondrial DNA (mtDNA) mutations have been assigned as a major cause of genetic disease. When a novel sequence variation is found, it is necessary to evaluate its functional impact, usually requiring functional molecular studies. Given the fact that this approach is difficult to put in practice in a routine basis, it is possible to take advantage of the in silico tools available and predict protein/RNA structure changes and therefore pathogenicity. Here, we describe the characterization of five undescribed mtDNA variants, upon detection of 23 unclassified alterations at Laboratory of Biochemical Genetics, from 2004 to 2014. Those five sequence variations are located in protein-coding genes, in five patients with a diverse range of mitochondrial respiratory chain disease phenotypes including encephalopathy, optic neuropathy, developmental delay, deafness and epilepsy. According to the prediction established by in silico analysis using tools to predict structure and function changes (ClustalW2®, PolyPhen-2®, SIFT®, MutationAssessor®, PredictProtein®, Provean®, I-TASSER®, Haplogrep®), from the 23 variants analyzed, the five described are potentially pathogenic. This approach is inexpensive and compatible with a rapid first line response to clinical demanding, contributing to a more rationale genetic diagnosis concerning novel mutations and to clarify the mtDNA involvement in these pathologies.
Assuntos
Simulação por Computador , DNA Mitocondrial/genética , Transporte de Elétrons/genética , Síndrome de Kearns-Sayre/genética , Miopatias Mitocondriais/genética , Mutação/genética , Adolescente , Adulto , Sequência de Bases , Criança , Feminino , Variação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mitocôndrias/genética , Análise de Sequência de DNARESUMO
Phytoremediation potential of uranium (U) was investigated by submerged, free-floating and rooted emergent native aquatic macrophytes inhabiting along the streams of Horta da Vilariça, a uraniferous geochemical region of NE Portugal. The work has been undertaken with the following objectives: (i) to relate the U concentrations in water-sediment-plant system; and (ii) to identify the potentialities of aquatic plants to remediate U-contaminated waters based on accumulation pattern. A total of 25 plant species culminating 233 samples was collected from 15 study points along with surface water and contiguous sediments. Concentrations of U showed wide range of variations both in waters (0.61-5.56 µg L(-1), mean value 1.98 µg L(-1)) and sediments (124-23,910 µg kg(-1), mean value 3929 µg kg(-1)) and this is also reflected in plant species examined. The plant species exhibited the ability to accumulate U several orders of magnitude higher than the surrounding water. Maximum U concentrations was recorded in the bryophyte Scorpiurium deflexifolium (49,639 µg kg(-1)) followed by Fontinalis antipyretica (35,771 µg kg(-1)), shoots of Rorippa sylvestris (33,837 µg kg(-1)), roots of Oenanthe crocata (17,807 µg kg(-1)) as well as in Nasturtium officinale (10,995 µg kg(-1)). Scorpiurium deflexifolium displayed a high bioconcentration factor (BF) of â¼2.5 × 10(4) (mean value). The species Fontinalis antipyretica, Nasturtium officinale (roots) and Rorippa sylvestris (shoots) exhibited the mean BFs of 1.7 × 10(4), 5 × 10(3) and 4.8 × 10(3) respectively. Maximum translocation factor (TF) was very much pronounced in the rooted perennial herb Rorippa sylvestris showing extreme ability to transport U for the shoots and seems to be promising candidate to be used as bioindicator species.
Assuntos
Urânio/metabolismo , Poluentes Radioativos da Água/metabolismo , Biodegradação Ambiental , Briófitas/metabolismo , Bryopsida/metabolismo , Monitoramento Ambiental , Nasturtium/metabolismo , Oenanthe/metabolismo , Raízes de Plantas/metabolismo , Brotos de Planta/metabolismo , Portugal , Rios/química , Rorippa/metabolismo , Urânio/análise , Poluentes Radioativos da Água/análiseRESUMO
The present study highlights the uranium (U) concentrations in water-soil-plant matrices and the efficiency considering a heterogeneous assemblage of terrestrial and aquatic native plant species to act as the biomonitor and phytoremediator for environmental U-contamination in the Sevilha mine (uraniferous region of Beiras, Central Portugal). A total of 53 plant species belonging to 22 families was collected from 24 study sites along with ambient soil and/or water samples. The concentration of U showed wide range of variations in the ambient medium: 7.5 to 557mgkg(-1) for soil and 0.4 to 113µgL(-1) for water. The maximum potential of U accumulation was recorded in roots of the following terrestrial plants: Juncus squarrosus (450mgkg(-1) DW), Carlina corymbosa (181mgkg(-1) DW) and Juncus bufonius (39.9mgkg(-1) DW), followed by the aquatic macrophytes, namely Callitriche stagnalis (55.6mgkg(-1) DW) Lemna minor (53.0mgkg(-1) DW) and Riccia fluitans (50.6mgkg(-1) DW). Accumulation of U in plant tissues exhibited the following decreasing trend: root>leaves>stem>flowers/fruits and this confirms the unique efficiency of roots in accumulating this radionuclide from host soil/sediment (phytostabilization). Overall, the accumulation pattern in the studied aquatic plants (L. minor, R. fluitans, C. stagnalis and Lythrum portula) dominated over most of the terrestrial counterpart. Among terrestrial plants, the higher mean bioconcentration factor (≈1 in roots/rhizomes of C. corymbosa and J. squarrosus) and translocation factor (31 in Andryala integrifolia) were encountered in the representing families Asteraceae and Juncaceae. Hence, these terrestrial plants can be treated as the promising candidates for the development of the phytostabilization or phytoextraction methodologies based on the accumulation, abundance and biomass production.
Assuntos
Plantas/metabolismo , Poluentes Radioativos do Solo/metabolismo , Urânio/metabolismo , Poluentes Radioativos da Água/metabolismo , Biodegradação Ambiental , Monitoramento Ambiental , Recuperação e Remediação Ambiental , Sedimentos Geológicos/análise , Mineração , Portugal , Poluentes Radioativos do Solo/análise , Urânio/análise , Poluentes Radioativos da Água/análiseRESUMO
Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.