Population medical genetics : translating science to the community

Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as "population medical genetics", which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP

Efeito do dessecante paraquat na qualidade da fração lipídica da soja

Para se determinar a qualidade da fração lipídica de grãos de soja submetidas à aplicação do dessecante bipiridílio (paraquat), foram estudados a composição química e os índices químicos de 3 (três) amostras de óleo bruto e 1 (uma) amostra de óleo refinado. Os óleos analisados no presente trabalho foram provenientes da região de Itumbiara - GO, extraídos de grãos de soja submetidos ou não à aplicação de paraquat. Utilizaram-se também amostras de óleo bruto extraídas por solvente, em laboratório, provenientes de grãos de soja sujeitos ou não à aplicação de dessecante. Nenhum resíduo do dessecante foi detectado, sensibilidade de 0,01 µg/g. O perfil de ácidos graxos, medido pelos teores dos ácidos palmítico, esteárico, oléico, linoléico e linolênico, encontrara-se dentro das faixas convencionais do óleo de soja de 9 a 4,5, 2,5 a 5,0, 18 a 34, 45 a 60 e 3,5 a 8,0%, respectivamente. No entanto, os índices de saponificação (de 161 a 171) ficaram abaixo dos valores estabelecidos pela legislação brasileira (189 a 198). Já os ácidos graxos livres, matéria insaponificável dos óleos brutos, e o índice de iodo do óleo refinado estão dentro desses padrões, máximos de 2,0%, 1,5% e 120 a 143, respectivamente. Os teores de ferro e de cadmio de 1,45 e 0,39 µg/g, respectivamente, de óleo refinado, atendem à legislação. Não se detectou chumbo, à sensibilidade de 0,01 µg/g. Esses metais foram analisados por espectrofotometria de absorção atômica.In order to determine the quality of lipidic fraction of soybean seeds from plants submitted to paraquat application, the composition and chemical indices of three crude extracts and one refined oil were studied. All samples were from Itumbiara-GO, Brazil. No residues of bipiridyls were detected, sensitivity less than 0.01µg/g. Fat acids profile, measured through palmitic, estearic, oleic, linoleic and linolenic acids were as espected for soybean oils, ranging from 9 to 14.5, 2.5 to 5.0, 18 to 34, 45 to 60 and 3.5 to 8,0%, respectively, although saponification indices have varied from 161 to 171, bellow the range of 189 to 198 for this oil. Free fat acids and unsaponifiable matter content of the crude oils and the iodine index of the refined oil attended the Brazilian standards which maximum values are 2.0%, 4.5% and 120 to 145, respectively. Iron and Cadmium contents were 1.45 and 0.39µg/g respectively meeting also the standards of quality. Lead was not detected, sensitivity less than 0.01 µg/g. Metal analyses were conducted by atomic absorption spectrophotometry

Population medical genetics : translating science to the community

Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as "population medical genetics", which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP

Proteínas do feijão preto sem casca: digestibilidade em animais convencionais e isentos de germes (germ-free) Proteins of dehulled black beans: digestibility in conventional and germ-free animals

O feijão (Phaseolus vulgaris, L. ) é uma leguminosa de grande importância para a dieta da população brasileira. No entanto, um de seus maiores problemas é representado pelo baixo valor nutricional de suas proteínas, decorrente, por um lado, da sua baixa digestibilidade e, de outro, do teor e biodisponibilidade reduzidos de aminoácidos sulfurados. Com o objetivo de avaliar a digestibilidade das proteínas albumina e globulina do feijão preto sem casca, foram realizados ensaios biológicos com camundongos isentos de germes e convencionais e com ratos (Wistar), recém-desmamados, com idade de 21 a 25 dias. Avaliou-se ainda o Escore Químico Corrigido pela Digestibilidade da Proteína. A digestibilidade verdadeira no experimento com camundongos isentos de germes foi de 90,21 e 90,00%, no teste com camundongos convencionais foi de 85,53 e 86,73%, e no experimento com ratos foi de 82,62 e 68,53%, para albumina e globulina, respectivamente. O Escore Químico Corrigido pela Digestibilidade da Proteína foi de 61,00% para a albumina e 51,00% para a globulina. A digestibilidade determinada em animais isentos de germes foi superior aos valores encontrados em animais convencionais, sugerindo que a flora intestinal esteja contribuindo para elevar o teor de nitrogênio nas fezes dos animais convencionais, e, portanto, esteja sendo subestimada a digestibilidade verdadeira do feijão.<br>The bean (Phaseolus vulgaris, L.) is a legume of great importance in the Brazilian typical diet. Nevertheless, it presents a low protein quality due to its poor digestibility and low levels and bioavailability of its sulfur aminoacids. The aim of this study was to evaluate the digestibility of albumin and globulin protein fractions of dehulled black beans in conventional and germ-free mice and also in weaning rats (Wistar) of 21 to 25 days of age. Protein Digestibility Corrected Amino Acid Score was also determined. True digestibility values in germ-free mice were 90.21 and 90.00%, in conventional mice were 85.53 and 86.73%, and in rats were 82.62 and 68.53%, for albumin and globulin respectively. Protein Digestibility Corrected Amino Acid Score was 61.00% for albumin and 51.00% for globulin. True digestibility values in germ-free mice were higher than those obtained with conventional animals. This fact suggests that intestinal flora is contributing to increase fecal nitrogen output in conventional animals, and, therefore, true digestibility of beans is being underestimated