7 documents found, page 1 of 1
Homocysteine metabolism in children and adolescents: influence of age on plasma...
Araújo, Helena Caldeira; Ramos, Ruben; Florindo, Cristina; Rivera, Isabel; Castro, Rita; Almeida, Isabel Tavares deBackground: Imbalance of homocysteine (Hcy) metabolism links with several pathologies; nevertheless, it is poorly characterized in pediatric populations. This study investigated the impact of age on plasma concentrations of Hcy and relevant biomarkers along with correspondent genotype interactions. Methods: A healthy pediatric cohort aged 9 (n = 195) and 17 (n = 128) years old (yo) was studied. Immunoassays and...
Next-generation sequencing of iron-metabolism related genes in Portuguese patie...
Faria, Ricardo; Silva, Bruno; Silva, Catarina; Vieira, Luis; Loureiro, Pedro; Gomes, Susana; Gonçalves, João; Rivera, Isabel; Fraga, SofiaObjective: In Southern European countries up to one-third of the patients with hereditary hemochromatosis (HH) do not present the common HFE risk genotype. In order to investigate the molecular basis of these cases we have designed a gene panel for rapid and simultaneous analysis of 6 HH-related genes (HFE, TFR2, HJV, HAMP, SLC40A1 and FTL) by next-generation sequencing (NGS). Materials and Methods: Eighty-eigh...
Complex genetic findings in a female patient with pyruvate dehydrogenase comple...
Pinheiro, Ana; Silva, Maria João; Pavlu-Pereira, Hana; Florindo, Cristina; Barroso, Madalena; Marques, Bárbara; Correia, Hildeberto; Oliveira, AnabelaHuman pyruvate dehydrogenase complex (PDC) catalyzes a key step in the generation of cellular energy and is composed by three catalytic elements (E1, E2, E3), one structural subunit (E3-binding protein), and specific regulatory elements, phosphatases and kinases (PDKs, PDPs). The E1α subunit exists as two isoforms encoded by different genes: PDHA1 located on Xp22.1 and expressed in somatic tissues, and the intr...
Défice do Complexo da Piruvato Desidrogenase (cPDH): Primeiro Caso Identificado...
Silva, Maria João; Cabral, Aguinaldo; Eusébio, Filomena; Tasso, Teresa; Gaspar, Ana; Tavares de Almeida, Isabel; Rivera, IsabelO Complexo da Piruvato Desidrogenase (cPDH) constitui um sistema multienzimático, localizado na matriz mitocondrial, que desempenha uma função crucial no metabolismo energético celular ao catalisar, de modo irreversível, a descarboxilação oxidativa do piruvato a acetil-Coenzima A, substrato essencial do ciclo de Krebs. O cPDH é composto por seis subunidades: três componentes catalíticos (Piruvato descarboxilase...
Adolescentes e Adultos Fenilcetonúricos: Alterações da Substância Branca Cerebr...
Cabral, Aguinaldo; Gomes, Leonor Bastos; Rivera, Isabel; Tasso, Teresa; Eusébio, FilomenaSão apresentados 22 doentes PKU, 10 do sexo masculino, 12 do feminino, com idades entre 10-41 A (média: 19,7), com diagnósticoe início da dieta tardios. A maioria (20/22) continuam com dieta, 85,7% dos quais há mais de 10 anos. As alterações da S. B. cerebralforam frequentes: 80,9% (RM), 47,6% (TAC), assim como a atrofia cortical: 33,3% (RM) e 28,6% (TAC). Identificadas 65,9% das mutações. Mutações prevalentes:...
The TCN2 776C> G polymorphism correlates with vitamin B12 cellular delivery in ...
Castro, Rita; Barroso, Madalena; Rocha, Mónica; Esse, Ruben; Ramos, Ruben; Ravasco, Paula; Rivera, Isabel; Almeida, Isabel Tavares deObjectives: Vitamin B12, or B12, is an essential nutrient for humans, and its deficiency is a public health problem, especially in elderly population. Around 30% of circulating total B12 levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biologically active fraction. After cellular uptake, B12 participates in the homocysteine (Hcy) metabolism. T...
Pyruvate dehydrogenase deficiency
Silva, Maria Joao; Pinheiro, Ana; Eusebio, Filomena; Gaspar, Ana; de Almeida, Isabel Tavares; Rivera, IsabelThe pyruvate dehydrogenase complex (PDHc) is an intramitochondrial multienzyme system, which plays a key role in aerobic glucose metabolism by catalysing the oxidative decarboxylation of pyruvate to acetyl-CoA. Genetic defects in the PDHc lead to lactic a