Percorrer por autor "Vitorino, Rui"
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- Insight into the molecular basis of Schistosoma haematobium-induced bladder cancer through urine proteomicsPublication . Bernardo, Carina; Cunha, Maria Cláudia; Santos, Júlio Henrique; da Costa, José M Correia; Brindley, Paul J; Lopes, Carlos; Amado, Francisco; Ferreira, Rita; Vitorino, Rui; Santos, Lúcio LaraInfection due to Schistosoma haematobium is carcinogenic. However, the cellular and molecular mechanisms underlying urogenital schistosomiasis (UGS)-induced carcinogenesis have not been well defined. Conceptually, early molecular detection of this phenomenon, through non-invasive procedures, seems feasible and is desirable. Previous analysis of urine collected during UGS suggests that estrogen metabolites, including depurinating adducts, may be useful for this purpose. Here, a new direction was pursued: the identification of molecular pathways and potential biomarkers in S. haematobium-induced bladder cancer by analyzing the proteome profiling of urine samples from UGS patients. GeLC-MS/MS followed by protein-protein interaction analysis indicated oxidative stress and immune defense systems responsible for microbicide activity are the most representative clusters in UGS patients. Proteins involved in immunity, negative regulation of endopeptidase activity, and inflammation were more prevalent in UGS patients with bladder cancer, whereas proteins with roles in renal system process, sensory perception, and gas and oxygen transport were more abundant in subjects with urothelial carcinoma not associated with UGS. These findings highlighted a Th2-type immune response induced by S. haematobium, which seems to be further modulated by tumorigenesis, resulting in high-grade bladder cancer characterized by an inflammatory response and complement activation alternative pathway. These findings established a starting point for the development of multimarker strategies for the early detection of UGS-induced bladder cancer.
- A paramiloidose em Portugal: reflexão sobre o paradigma da transplantação hepática motivada por um caso clínicoPublication . Lacerda, Pedro Castro; Moreira, Luciana; Vitorino, Rui; Costa, Paulo PinhoA Polineuropatia Amiloidótica Familiar de tipo português (PAF) ou ATTR V30M é uma doença hereditária cuja prevalência em Portugal é elevada, sendo diagnosticados cerca de 60 novos casos todos os anos. Uma doente com PAF submeteu-se a um segundo transplante hepático de um dador cadavérico depois de se ter constatado que o primeiro dador era portador de TTR V30M. Com este artigo breve pretende-se realizar uma reflexão sobre o interesse, a prática e o enquadramento legal que condicionam a realização de testes genéticos preditivos em dadores de fígado na transplantação de doentes com paramiloidose. A determinação da presença (ou não) de proteína mutada no soro do segundo dador foi realizada por espectrometria de massa precedida de imunoprecipitação da proteína transtirretina. A realização de testes genéticos que permitam determinar a condição de portador de TTR V30M em dadores de fígado, deveria ser considerada no quadro das políticas de transplante em Portugal.
- Quantitative Proteomic Analysis of Skeletal Muscle Detergent-Resistant Membranes in a Smith-Lemli-Opitz Syndrome MousePublication . Cardoso, Maria Luís; Vitorino, Rui; Reguengo, Henrique; Casal, Susana; Fernandes, Rui; Duarte, Isabel; Lamas, Sofia; Alves, Renato; Amado, Francisco; Marques, FranklimSmith-Lemli-Opitz syndrome (SLOS) is an inborn error of metabolism affecting the last step of cholesterol biosynthesis. It is characterized by a deficiency of the enzyme 7- dehydrocholesterol reductase and accumulation of 7-dehydrocholesterol (7DHC) in cells and body fluids. Given the similarities between 7DHC and cholesterol, 7DHC can be incorporated into cell membranes in lieu of cholesterol. Nevertheless, due to their structural differences and distinct affinity to other membrane components, this substitution alters membrane properties and one can expect to find abnormalities in membrane protein composition. In order to identify differences in membrane proteins that could facilitate our understanding of SLOS physiopathology, we isolated detergent-resistant membranes (DRMs) from the skeletal muscle of Dhcr7T93M/T93M mice and C57/BL6 controls and performed comparative proteomic analysis using iTRAQ for peptide quantification. A total of 133 proteins were identified in the DRM fraction: 17 (13%) proteins demonstrated increased expression in SLOS mice, whereas, 21 (16%) showed decreased expression. Characterization of functional point of view and bioenergetics pathway and transmembrane transport responded to the major differences between the two groups of animals.
- Role of mitochondrial antioxidant defense systems in fatty acid β-oxidation defectsPublication . Rocha, Hugo; Ferreira, Rita; Vitorino, Rui; Almeida, Vanessa; Santa, Cátia; Lopes, Lurdes; Vilarinho, Laura; Amado, FranciscoMitochondrial fatty acid oxidation (FAO) plays a pivotal role in energy homeostasis, namely during periods of fasting or metabolic stress. FAO defects are a group of inherited metabolic disorders that encompass at least twelve distinct enzyme or transporter deficiencies, and can present with a wide range of clinical symptoms with various degrees of severity. Besides recent advances, many doubts still remain on the degree and characteristics of mitochondrial dysfunction on FAOD and its contribution to the clinical phenotype.
- Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant DonorPublication . Lacerda, Pedro C.; Moreira, Luciana; Vitorino, Rui; Costa, Paulo P.Familial amyloidotic polyneuropathy (FAP), Portuguese type, or ATTR V30M is an autosomal dominant inherited disorder caused by a mutation in the transthyretin gene, with a valine/methionine substitution at position 30 (TTRV30M). ATTRV30Mis characterized by a progressive sensory/autonomic polyneuropathy and multiple organ dysfunction. Liver transplantation is the main therapeutic option,as it virtually eliminates the production of circulating TTR V30M, which occurs predominantly in the liver.