Oxidative stress in homocystinuria : findings in patients and in animal models

Detalhes bibliográficos
Autor(a) principal: Faverzani, Jéssica Lamberty
Data de Publicação: 2016
Tipo de documento: Trabalho de conclusão de curso
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/184815
Resumo: Homocystinuria is an inborn error of amino acid metabolism caused by deficiency of cystathionine ß-synthase (CBS) activity, leading to the accumulation of homocysteine (Hcy) and methionine (Met) in biological fluids and high urinary excretion of homocystine (Hci). This accumulation leads to a variety of clinical manifestations, in different organs and tissues, as thinning and lengthening of the long bones, osteoporosis, dislocation of the ocular lens, thromboembolism and mental retardation, but the pathophysiology of this disease is not completely understood. In this context, this review addresses some findings obtained from patients and animal studies indicating that oxidative stress plays an important role in the pathophysiology of homocystinuria. Several studies have shown that enzymatic and non-enzymatic antioxidant defenses are decreased, as well as markers of lipid, protein, and DNA oxidative damage have been reported increased in blood, brain, liver and muscle in the animal models studied, as well as in homocystinuric patients, which may be due to an increased free radical generation or secondary to the deprivation of micronutrients which are essential for these defenses. A considerable set of data from in vitro and in vivo animal studies have shown that Hcy induces reactive species formation in brain rodent. Considering these findings, it is well established that oxidative stress may contribute to the damage found in homocystinuric patients. This review offers new perspectives for the treatment in homocystinuria, which may include the use of appropriate antioxidants as a novel adjuvant therapy for the patients.
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spelling Faverzani, Jéssica LambertyVargas, Carmen Regla2018-11-17T03:12:18Z2016http://hdl.handle.net/10183/184815001020643Homocystinuria is an inborn error of amino acid metabolism caused by deficiency of cystathionine ß-synthase (CBS) activity, leading to the accumulation of homocysteine (Hcy) and methionine (Met) in biological fluids and high urinary excretion of homocystine (Hci). This accumulation leads to a variety of clinical manifestations, in different organs and tissues, as thinning and lengthening of the long bones, osteoporosis, dislocation of the ocular lens, thromboembolism and mental retardation, but the pathophysiology of this disease is not completely understood. In this context, this review addresses some findings obtained from patients and animal studies indicating that oxidative stress plays an important role in the pathophysiology of homocystinuria. Several studies have shown that enzymatic and non-enzymatic antioxidant defenses are decreased, as well as markers of lipid, protein, and DNA oxidative damage have been reported increased in blood, brain, liver and muscle in the animal models studied, as well as in homocystinuric patients, which may be due to an increased free radical generation or secondary to the deprivation of micronutrients which are essential for these defenses. A considerable set of data from in vitro and in vivo animal studies have shown that Hcy induces reactive species formation in brain rodent. Considering these findings, it is well established that oxidative stress may contribute to the damage found in homocystinuric patients. This review offers new perspectives for the treatment in homocystinuria, which may include the use of appropriate antioxidants as a novel adjuvant therapy for the patients.application/pdfengFarmáciaHomocystinuriaOxidative stressHomocysteineAntioxidantsHomocystinuric patientsAnimal modelsOxidative stress in homocystinuria : findings in patients and in animal modelsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/bachelorThesisUniversidade Federal do Rio Grande do SulFaculdade de FarmáciaPorto Alegre, BR-RS2016Farmáciagraduaçãoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001020643.pdf.txt001020643.pdf.txtExtracted Texttext/plain43033http://www.lume.ufrgs.br/bitstream/10183/184815/2/001020643.pdf.txtd14c3437365a23e90f53b36b427f913eMD52ORIGINAL001020643.pdfTexto completo (inglês)application/pdf259938http://www.lume.ufrgs.br/bitstream/10183/184815/1/001020643.pdf4e8553ca06c9b5e35ba56fee5f5457a7MD5110183/1848152021-05-07 04:53:51.586222oai:www.lume.ufrgs.br:10183/184815Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-05-07T07:53:51Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Oxidative stress in homocystinuria : findings in patients and in animal models
title Oxidative stress in homocystinuria : findings in patients and in animal models
spellingShingle Oxidative stress in homocystinuria : findings in patients and in animal models
Faverzani, Jéssica Lamberty
Farmácia
Homocystinuria
Oxidative stress
Homocysteine
Antioxidants
Homocystinuric patients
Animal models
title_short Oxidative stress in homocystinuria : findings in patients and in animal models
title_full Oxidative stress in homocystinuria : findings in patients and in animal models
title_fullStr Oxidative stress in homocystinuria : findings in patients and in animal models
title_full_unstemmed Oxidative stress in homocystinuria : findings in patients and in animal models
title_sort Oxidative stress in homocystinuria : findings in patients and in animal models
author Faverzani, Jéssica Lamberty
author_facet Faverzani, Jéssica Lamberty
author_role author
dc.contributor.author.fl_str_mv Faverzani, Jéssica Lamberty
dc.contributor.advisor1.fl_str_mv Vargas, Carmen Regla
contributor_str_mv Vargas, Carmen Regla
dc.subject.por.fl_str_mv Farmácia
topic Farmácia
Homocystinuria
Oxidative stress
Homocysteine
Antioxidants
Homocystinuric patients
Animal models
dc.subject.eng.fl_str_mv Homocystinuria
Oxidative stress
Homocysteine
Antioxidants
Homocystinuric patients
Animal models
description Homocystinuria is an inborn error of amino acid metabolism caused by deficiency of cystathionine ß-synthase (CBS) activity, leading to the accumulation of homocysteine (Hcy) and methionine (Met) in biological fluids and high urinary excretion of homocystine (Hci). This accumulation leads to a variety of clinical manifestations, in different organs and tissues, as thinning and lengthening of the long bones, osteoporosis, dislocation of the ocular lens, thromboembolism and mental retardation, but the pathophysiology of this disease is not completely understood. In this context, this review addresses some findings obtained from patients and animal studies indicating that oxidative stress plays an important role in the pathophysiology of homocystinuria. Several studies have shown that enzymatic and non-enzymatic antioxidant defenses are decreased, as well as markers of lipid, protein, and DNA oxidative damage have been reported increased in blood, brain, liver and muscle in the animal models studied, as well as in homocystinuric patients, which may be due to an increased free radical generation or secondary to the deprivation of micronutrients which are essential for these defenses. A considerable set of data from in vitro and in vivo animal studies have shown that Hcy induces reactive species formation in brain rodent. Considering these findings, it is well established that oxidative stress may contribute to the damage found in homocystinuric patients. This review offers new perspectives for the treatment in homocystinuria, which may include the use of appropriate antioxidants as a novel adjuvant therapy for the patients.
publishDate 2016
dc.date.issued.fl_str_mv 2016
dc.date.accessioned.fl_str_mv 2018-11-17T03:12:18Z
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