Detection of spinal muscular atrophy carriers in a sample of the Brazilian population.

BACKGROUND: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. The aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazilian population by denaturing high-performance liquid chromatography (DHPLC). METHODS: To validate the method, we initially determined the relative quantification of DHPLC in 28 affected patients (DHPLC values: 0.00) and 65 parents (DHPLC values: 0.49-0.69). Following quantification, we studied 150 unrelated nonconsanguineous healthy individuals from the general population. RESULTS: Four of the 150 healthy individuals tested (with no family history of a neuromuscular disorder) presented a DHPLC value in the range of heterozygous carriers (0.6-0.68). CONCLUSIONS: Based on these results, we estimated there is a carrier frequency of 2.7% in the nonconsanguineous Brazilian population, which is very similar to other areas of the world where consanguineous marriage is not common. This should be considered in the process of genetic counseling and risk calculations.

Survival of the thriftiest: restricted nurture reveals the thrifty nature of a growth gene in Bos indicus.

Growth hormone (GH) is a part of the somatotropic axis that controls metabolism, growth, development and aging in a wide range of animals. Mutations that reduce GH signaling have been associated with extended life spans and increased longevity in ways similar to what is observed in dietary restriction (DR) models. However, the mechanism by which DR works is not well understood. Here, we show that DR works as a factor in the evolution of the genetic make-up of domestic cattle. In a series of 6864 bovines of seven Bos indicus and tropically adapted Bos taurus breeds, the frequency of a short, wild-type allele of the promoter region of the bovine GH gene, G1 allele, varied from 2.7 to 17.7%. The frequency of the long, domestic G2 allele increased from 88 to 95% along 20 calf crops of commercial Bos indicus cattle of the Nelore breed undergoing selection for increasing post-weaning weight gain with ad libitum nutrient intake. Under DR, however, the G1 allele sustained growth better than the G2 allele, as observed in a series of feeding tests. The G2 allele was even detrimental or abiotropic, as it caused rapid body decay under DR. We observed a reflection symmetry of GH allele substitution effects on body weight under different dietary schemes. The G2 allele is featured as the "demanding allele", because it is optimally fitted to ad libitum nutrient intake. The G1 allele is featured as the "thrifty allele" because it is optimally fitted to DR. Our results show that dietary regimens need not extend lifespan or increase longevity in the sense of age-specific fitness. Instead, adaptation to any particular dietary regimen is just as much a consequence of selection as its cause; dietary regimens work as do any selection force, optimizing genotypic fitness to nutritional conditions.

Oxygen uptake during mineralization of photosynthesized carbon from phytoplankton of the Barra Bonita reservoir: a mesocosm study.

This study aimed to discuss and describe the oxygen consumption during aerobic mineralization of organic products (cells and excretion products) from five unialgal cultures: Cryptomonas sp., Microcystis aeruginosa, Anabaena spiroides, Thalassiosira sp. and Aulacoseira granulata. These species were isolated from Barra Bonita reservoir (22 degrees 29' S and 48 degrees 34' W) and cultivated in the laboratory. From each culture, two decomposition chambers were prepared; each chamber contained about 130 mg.L(-1) of carbon from water samples of the reservoir. The chambers were aerated and incubated in the dark at 20.0 degrees C. The concentration of dissolved oxygen, pH values and electrical conductivity of the solutions were determined during a period of 10 days. The results indicated increases in oxygen consumption for all the solutions studied and also for electrical conductivity. The pH values presented a decreasing tendency throughout the experiment. Oxygen consumption varied from 43 (Aulacoseira granulata chamber) to 345 mg O2 g(-1) C (Anabaena spiroides chamber). Decrease in pH values was probably due to increase in CO2 concentration from microbial respiration. Increase in electrical conductivity might be due to the liberation of ions during decomposition. The results demonstrate the potentiality of the studied genera in influencing oxygen availability followed by a die-off event. It also indicates the possibility of changing of the electrical conductivity and pH values in the water column due the aerobic algae mineralization.

Oxygen uptake during mineralization of photosynthesized carbon from phytoplankton of the Barra Bonita Reservoir: a mesocosm study

This study aimed to discuss and describe the oxygen consumption during aerobic mineralization of organic products (cells and excretion products) from five unialgal cultures: Cryptomonas sp., Microcystis aeruginosa, Anabaena spiroides, Thalassiosira sp. and Aulacoseira granulata. These species were isolated from Barra Bonita reservoir (22º 29’ S and 48º 34’ W) and cultivated in the laboratory. From each culture, two decomposition chambers were prepared; each chamber contained about 130 mg.L-1 of carbon from water samples of the reservoir. The chambers were aerated and incubated in the dark at 20.0 ºC. The concentration of dissolved oxygen, pH values and electrical conductivity of the solutions were determined during a period of 10 days. The results indicated increases in oxygen consumption for all the solutions studied and also for electrical conductivity. The pH values presented a decreasing tendency throughout the experiment. Oxygen consumption varied from 43 (Aulacoseira granulata chamber) to 345 mg O2 g-1 C (Anabaena spiroides chamber). Decrease in pH values was probably due to increase in CO2 concentration from microbial respiration. Increase in electrical conductivity might be due to the liberation of ions during decomposition. The results demonstrate the potentiality of the studied genera in influencing oxygen availability followed by a die-off event. It also indicates the possibility of changing of the electrical conductivity and pH values in the water column due the aerobic algae mineralization.

Este estudo teve por objetivo descrever e discutir aspectos do consumo de oxigênio decorrente da mineralização aeróbia de células e produtos de excreção provenientes de cinco culturas de algas: Cryptomonas sp., Microcystis aeruginosa, Anabaena spiroides, Thalassiosira sp. e Aulacoseira granulata. As algas foram isoladas do reservatório de Barra Bonita (22º 29’ S e 48º 34’ W) e cultivadas em laboratório. Para cada cultura, foram preparadas duas câmaras de mineralização; cada garrafa conteve, em base de carbono, cerca de 130 mg.L-1 em amostras de água do reservatório. As câmaras foram aeradas e incubadas no escuro a 20 ºC. Durante um período de 10 dias, foram determinadas as concentrações de oxigênio dissolvido, pH e condutividade elétrica das misturas. Os resultados indicaram incrementos nos consumos de oxigênio e de condutividade elétrica e decréscimos nos valores de pH. O consumo de oxigênio variou de 43 (experimento com Aulacoseira granulata) a 345 mg O2 g-1 C (experimento com Anabaena spiroides). Os aumentos dos valores de condutividade elétrica provavelmente decorreram da liberação de íons durante a decomposição. Para o pH, a diminuição dos valores foi provavelmente resultante do incremento das concentrações de CO2 provenientes da respiração dos microrganismos. Os resultados sugeriram para a represa de Barra Bonita, a possibilidade de incremento das demandas de oxigênio em função da degradação dos gêneros selecionados. Visto que esse reservatório é eutrófico, os resultados indicam também a possibilidade de alterações da condutividade elétrica da água e do pH devido à mineralização aeróbia de algas.

Copper and cadmium complexation by high molecular weight materials of dominant microalgae and of water from a eutrophic reservoir.

High molecular weight materials (HMWM, >12000-14000 Da) excreted by the two cyanophyte species (Microcystis aeruginosa and Anabaena spiroides) and a diatom (Aulacoseira granulata) which are dominant phytoplankton species in a eutrophic reservoir, Barra Bonita, Brazil were investigated as copper (Cu) and cadmium (Cd) complexation agents and their monosaccharide and elemental analysis of C, H, N and S determined. Also, HMWM obtained from the reservoir water as well as from a mixture of the three algae materials were studied. The HMWM of the cyanophytes and the mixture of the three algae materials complexed Cu and Cd, whereas the HMWM of the diatom and that from the reservoir water complexed only Cu. Two classes of ligands of intermediate to weak binding strength were obtained after Scatchard plot analysis of the titration data. The cyanophytes and the mixture HMWM presented higher conditional stability constants for Cu class-1 ligands (logK1' = 9.2-9.5) than the HMWM derived from the diatom and the reservoir water (logK1' = 8.6-8.8). Higher proportions of acidic monosaccharides corresponded to higher K1' of Cu and Cd complexation, yet no relation was observed among complexation parameters and elemental analysis. This study points out Cu ligands of intermediate to weak binding strength in the excreted HMWM of dominant microalgae and in the HMWM of the reservoir water, while Cd was solely complexed by ligands isolated from the cyanophyte HMWM.