Mucopolysaccharidoses : from understanding to treatment, a century of discoveries

Detalhes bibliográficos
Autor(a) principal: Giugliani, Roberto
Data de Publicação: 2012
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/87996
Resumo: After the first description of a patient recognized as a MPS case was made in 1917, several similar cases were described and identified. Observations reported in the middle of the twentieth century concerning the presence of acid mucopolysaccharides (later called glycosaminoglycans, or GAGs) in tissues and especially in urine of patients were instrumental in providing an identity for these diseases, which became referred as “mucopolysaccharidoses” (MPS). In the late 1960’s it was demonstrated that MPS were caused by defects in the breakdown of GAGs, and the specific enzyme deficiencies for the 11 types and subtypes of MPS were identified thereafter. Genes involved in the MPS were subsequently identified, and a large number of disease-causing mutations were identified in each one. Although individually rare, MPS are relatively frequent as a group, with an overall incidence estimated as 1:22,000. The increased excretion of urinary GAGs observed in the vast majority of MPS patients provides a simple screening method, the diagnosis usually being confirmed by the identification of the specific enzyme deficiency. Molecular analysis also plays a role, being helpful for phenotype prediction, prenatal diagnosis and especially for the identification of carriers. As the diseases are rare and diagnosis requires sophisticated methods, the establishment of reference laboratories for MPS identification is recommended. The successful experience of the MPS Brazil Network in providing access to information and diagnosis may be considered as an option for developing countries. The development of therapeutic strategies for MPS, including bone marrow/hematopoietic stem cell transplantation (BMT/HSCT) and enzyme replacement therapy (ERT), changed the natural history of many MPS types. However, some challenges still remain, including the prevention of cognitive decline which occurs in some MPS. Newer approaches, such as intratechal ERT, substrate reduction therapy, read-through, gene therapy and encapsulated modified cells may provide a better outcome for these diseases in the near future. As early diagnosis and early treatment seems to improve treatment outcomes, and as newborn screening is now technically feasible, pilot programs (including one in progress in an area with high-incidence of MPS VI in northeastern Brazil) should provide information about its potential impact in reducing the morbidity associated with MPS diseases.
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spelling Giugliani, Roberto2014-02-28T01:50:55Z20121415-4757http://hdl.handle.net/10183/87996000876248After the first description of a patient recognized as a MPS case was made in 1917, several similar cases were described and identified. Observations reported in the middle of the twentieth century concerning the presence of acid mucopolysaccharides (later called glycosaminoglycans, or GAGs) in tissues and especially in urine of patients were instrumental in providing an identity for these diseases, which became referred as “mucopolysaccharidoses” (MPS). In the late 1960’s it was demonstrated that MPS were caused by defects in the breakdown of GAGs, and the specific enzyme deficiencies for the 11 types and subtypes of MPS were identified thereafter. Genes involved in the MPS were subsequently identified, and a large number of disease-causing mutations were identified in each one. Although individually rare, MPS are relatively frequent as a group, with an overall incidence estimated as 1:22,000. The increased excretion of urinary GAGs observed in the vast majority of MPS patients provides a simple screening method, the diagnosis usually being confirmed by the identification of the specific enzyme deficiency. Molecular analysis also plays a role, being helpful for phenotype prediction, prenatal diagnosis and especially for the identification of carriers. As the diseases are rare and diagnosis requires sophisticated methods, the establishment of reference laboratories for MPS identification is recommended. The successful experience of the MPS Brazil Network in providing access to information and diagnosis may be considered as an option for developing countries. The development of therapeutic strategies for MPS, including bone marrow/hematopoietic stem cell transplantation (BMT/HSCT) and enzyme replacement therapy (ERT), changed the natural history of many MPS types. However, some challenges still remain, including the prevention of cognitive decline which occurs in some MPS. Newer approaches, such as intratechal ERT, substrate reduction therapy, read-through, gene therapy and encapsulated modified cells may provide a better outcome for these diseases in the near future. As early diagnosis and early treatment seems to improve treatment outcomes, and as newborn screening is now technically feasible, pilot programs (including one in progress in an area with high-incidence of MPS VI in northeastern Brazil) should provide information about its potential impact in reducing the morbidity associated with MPS diseases.application/pdfengGenetics and molecular biology. Vol. 35, n. 4 supl (Dec. 2012), p. 924-931Genéticamucopoloysaccharidoseslysosomal diseasesenzyme replacement therapyprenatal diagnosisnewborn screeningMucopolysaccharidoses : from understanding to treatment, a century of discoveriesinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000876248.pdf000876248.pdfTexto completo (inglês)application/pdf978595http://www.lume.ufrgs.br/bitstream/10183/87996/1/000876248.pdf3b76adbafd35407ce1766838011ed2beMD51TEXT000876248.pdf.txt000876248.pdf.txtExtracted Texttext/plain37978http://www.lume.ufrgs.br/bitstream/10183/87996/2/000876248.pdf.txtbc20641bf914d71f029e4038b2318119MD52THUMBNAIL000876248.pdf.jpg000876248.pdf.jpgGenerated Thumbnailimage/jpeg1887http://www.lume.ufrgs.br/bitstream/10183/87996/3/000876248.pdf.jpg341583a2a50f28df134de73827e256cbMD5310183/879962021-07-09 04:37:33.126194oai:www.lume.ufrgs.br:10183/87996Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-07-09T07:37:33Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
title Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
spellingShingle Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
Giugliani, Roberto
Genética
mucopoloysaccharidoses
lysosomal diseases
enzyme replacement therapy
prenatal diagnosis
newborn screening
title_short Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
title_full Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
title_fullStr Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
title_full_unstemmed Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
title_sort Mucopolysaccharidoses : from understanding to treatment, a century of discoveries
author Giugliani, Roberto
author_facet Giugliani, Roberto
author_role author
dc.contributor.author.fl_str_mv Giugliani, Roberto
dc.subject.por.fl_str_mv Genética
topic Genética
mucopoloysaccharidoses
lysosomal diseases
enzyme replacement therapy
prenatal diagnosis
newborn screening
dc.subject.eng.fl_str_mv mucopoloysaccharidoses
lysosomal diseases
enzyme replacement therapy
prenatal diagnosis
newborn screening
description After the first description of a patient recognized as a MPS case was made in 1917, several similar cases were described and identified. Observations reported in the middle of the twentieth century concerning the presence of acid mucopolysaccharides (later called glycosaminoglycans, or GAGs) in tissues and especially in urine of patients were instrumental in providing an identity for these diseases, which became referred as “mucopolysaccharidoses” (MPS). In the late 1960’s it was demonstrated that MPS were caused by defects in the breakdown of GAGs, and the specific enzyme deficiencies for the 11 types and subtypes of MPS were identified thereafter. Genes involved in the MPS were subsequently identified, and a large number of disease-causing mutations were identified in each one. Although individually rare, MPS are relatively frequent as a group, with an overall incidence estimated as 1:22,000. The increased excretion of urinary GAGs observed in the vast majority of MPS patients provides a simple screening method, the diagnosis usually being confirmed by the identification of the specific enzyme deficiency. Molecular analysis also plays a role, being helpful for phenotype prediction, prenatal diagnosis and especially for the identification of carriers. As the diseases are rare and diagnosis requires sophisticated methods, the establishment of reference laboratories for MPS identification is recommended. The successful experience of the MPS Brazil Network in providing access to information and diagnosis may be considered as an option for developing countries. The development of therapeutic strategies for MPS, including bone marrow/hematopoietic stem cell transplantation (BMT/HSCT) and enzyme replacement therapy (ERT), changed the natural history of many MPS types. However, some challenges still remain, including the prevention of cognitive decline which occurs in some MPS. Newer approaches, such as intratechal ERT, substrate reduction therapy, read-through, gene therapy and encapsulated modified cells may provide a better outcome for these diseases in the near future. As early diagnosis and early treatment seems to improve treatment outcomes, and as newborn screening is now technically feasible, pilot programs (including one in progress in an area with high-incidence of MPS VI in northeastern Brazil) should provide information about its potential impact in reducing the morbidity associated with MPS diseases.
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