Navegando por Palavras-chave "Standardization Of Analysis"

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    Padronização da análise molecular do gene LIPA e investigação de variantes em família brasileira com suspeita diagnóstica de deficiência de lipase ácida lisossomal
    (Universidade Federal de São Paulo (UNIFESP), 2019-10-30) Assis, Erica Aparecida De [UNIFESP]; Pesquero, Joao Bosco [UNIFESP]; http://lattes.cnpq.br/0856630824759511; Universidade Federal de São Paulo (UNIFESP)
    Wolman's disease and cholesterol and triglyceride ester storage (CESD) are caused by deficiency or lack of lipase enzyme activity lysosomal acid (LAL); these diseases have as common characteristic the accumulation of cholesterol ester and triglycerides in organs that participate in the metabolism of these compounds such as liver and spleen. Wolman's disease has early manifestation of symptoms with hepatosplenomegaly, steatorrhea and adrenal calcification and can be fatal before one year of age. In the case of CESD, symptoms are similar to those of Wolman's disease, but progressive and with manifestation, in these cases it is likely that many patients will not be detected or misdiagnosed. Lysosomal acid lipase is a enzyme that plays an important role in the cellular processing of plasma lipoproteins as it hydrolyzes triacylglycerols and cholesterol esters, and contributes to the homeostatic control of blood lipoprotein levels and to the prevention of cellular lipid overload. The gene that codes for LAL is called LIPA mutations in this gene may cause partial or total enzyme deficiency culminating in Wolman's disease or CESD. In the present work, the standardization of LIPA molecular analysis, as well as the investigation of this gene in a Brazilian family with characteristic clinic of LAL deficiency. The changes detected in the sequencing of the LIPA gene by the Sanger methodology, may be the cause of the disease in this family according to the literature and predictors consulted. The next generation sequencing (NGS) of the mother's exome index patient showed that there is still the possibility of involvement of other genes in the clinic, which should be proven by further studies.
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    Proliferação celular induzida por diferentes estruturas de heparina em fibroblastos humanos
    (Universidade Federal de São Paulo (UNIFESP), 2019-10-31) Deboni, Paula [UNIFESP]; Lima, Marcelo Andrade De [UNIFESP]; Chaim, Olga Meiri [UNIFESP]; http://lattes.cnpq.br/3063664955440375; http://lattes.cnpq.br/2373620610058306; http://lattes.cnpq.br/1556995729684079; Universidade Federal de São Paulo (UNIFESP)
    Heparin / heparam sulfate (HS) are linear polysaccharides, heterogeneous and sulfated compounds that modulate different biological processes through their interaction with various proteins. Among Heparin / HS binding proteins, fibroblast growth factors (FGF) stand out, where HS acts as a co-receptor of the FGF / FGFR complex, which is responsible for regulating processes as cell proliferation. Objective: In the present work we evaluated the influence of structurally modified heparins as a proxy for different HS structures, FGF / FGFR signaling in human foreskin fibroblast (HFF-1) cells. Methods and Results: For this, swine heparin and three saccharides were used. chemically modified with different substitution patterns and conformational differences associated with recombinant FGF-2. Initially, We excluded the cytotoxicity effect of modified saccharides on HFF-1 cells. Then we evaluated their influence on cell proliferation by incorporation of BrdU (bromodeoxyuridine). Although conformationally distinct, both 2-O-desulfated and 6-O-desulfated saccharides induced proliferation cell and saccharides without sulfate groups did not induce such effect. Furthermore, STD-NMR interaction assays showed that both saccharides, 2-Odesulfated and 6-O-desulfated, are capable of interacting with FGF-2. Conclusion: Taken together, our results demonstrate that there is a significant level of redundancy between the structure / function correlation of HS, since different structures were able to produce the same end effect of cell proliferation.