Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622–1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622–1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G was 16.7%, whereas R521C was not found in the patients. The overall frequency of either R59H or 1622–1627insG was 57.7% of the disease-causing alleles. This epidemiological study suggested a carrier frequency of 1:58. Seven different haplotypes were found. The 1622–1627insG mutation was not found to be linked to any polymorphism, whereas linkage disequilibrium was found for haplotype 2 (R59H, S532G) (p < 0.001). These data confirm the high incidence of GM1 gangliosidosis and the high frequency of two common mutations in southern Brazil.
The aim of this study was to investigate the effect of the aqueous extract (AE) of Achyrocline satureioides on serum lipid profile, liver oxidative profile and Na(+),K(+)-ATPase activity of rats submitted to a hyperlipidic diet. The animals were divided into four groups: control (C), AE 10% (A(10)), hyperlipidic (H) and hyperlipidic/AE 10% (HA(10)). In serum, we measured the levels of total cholesterol (TC), high-density lipoprotein, very-low-density lipoprotein, low-density lipoprotein (LDL) and triglyceride (TG). In liver homogenates, we measured the thiobarbituric acid reactive substances, the carbonyl proteins, the non-protein thiols (NPSHs) and the activity of superoxide dismutase, catalase (CAT) and Na(+),K(+)-ATPase. We observed a significant increase in the TC and LDL levels in the H group. A. satureioides prevented these effects, decreased the TG levels in the HA(10) group and increased the NPSH levels in the A(10) and HA(10) groups. The H group showed an increase in the carbonyl protein level and a decrease in CAT and Na(+),K(+)-ATPase activities. With the use of this model, results show that increased levels of lipids are related to a redox imbalance in the liver, which is also related to the inhibition of Na(+),K(+)-ATPase activity, and that chronic administration of the AE of A. satureioides is capable of changing this profile.
Caracteres hereditários humanos vêm sendo progressivamente incluídos na contextualização dos padrões de herança no Ensino Médio com o objetivo de aproximar o cotidiano do aluno, tornando o ensino mais interessante, motivador e significativo. Informações equivocadas, com erros, desvios e mesmo simplificações com relação ao padrão de herança desses caracteres podem comprometer o ensino e levar a um descrédito da informação científica. Este estudo teve por objetivo levantar e analisar a utilização desses caracteres como forma de contextualizar os padrões de herança nos livros didáticos referências para o Ensino Médio em Biologia (PNLEM/2012). Observa-se uma preferência em utilizar caracteres humanos externos e facilmente identificáveis. No entanto, diferentes equívocos são relatados na utilização desses caracteres, sendo que os que mais comprometem o ensino são os erros conceituais e os desvios com relação à descrição dos textos de referência, que podem comprometer o ensino em decorrência dos equívocos implícitos nessas simplificações, visto que esses traços podem ser facilmente observáveis em si mesmo e em seus familiares.
Os “padrões de herança mendelianos” constituem um dos principais assuntos do ensino de Genética no ensino médio. Compreender o que é uma herança autossômica dominante ou recessiva é muitas vezes o ponto de partida da maioria dos professores, 150 anos depois da publicação dos trabalhos de Mendel. Contudo, a escolha de exemplos pode ser problemática, visto que vários dos casos comumente escolhidos para ilustrar a Primeira Lei de Mendel não representam, de fato, características monogênicas que se transmitem de forma mendeliana. Neste trabalho, analisamos exemplos comumente presentes em livros didáticos e propomos que a escolha dos casos, a ser feita por cada professor, seja objeto de reflexão que pondere vantagens e riscos, particularmente quando os exemplos referem-se a características humanas. Essa reflexão pode garantir que os exemplos escolhidos sejam conceitualmente corretos e, ao mesmo tempo, motivadores para os estudantes.
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