Keutel Syndrome, a review of 50 years of literature
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.1/15495 |
Resumo: | Keutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patients with KS are usually diagnosed during childhood (early onset of the disease), and the major traits include abnormal calcification of cartilaginous tissues resulting in or associated with malformations of skeletal tissues (e.g., midface hypoplasia and brachytelephalangism) and cardiovascular defects (e.g., congenital heart defect, peripheral pulmonary artery stenosis, and, in some cases, arterial calcification), and also hearing loss and mild developmental delay. While studies on Mgp-/- mouse, a faithful model of KS, show that pathologic mineral deposition (ectopic calcification) in cartilaginous and vascular tissues is the primary cause underlying many of these abnormalities, the mechanisms explaining how MGP prevents abnormal calcification remain poorly understood. This has negative implication for the development of a cure for KS. Indeed, at present, only symptomatic treatments are available to treat hypertension and respiratory complications occurring in the KS patients. In this review, we summarize the results published in the last 50 years on Keutel syndrome and present the current status of the knowledge on this rare pathology. |
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Keutel Syndrome, a review of 50 years of literatureMatrix gla proteinPeripheral pulmonary stenosisK-dependent carboxylaseMGP expressionBreast-cancerFollow-upCalcificationDeficiencyMutationsPromoterKeutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patients with KS are usually diagnosed during childhood (early onset of the disease), and the major traits include abnormal calcification of cartilaginous tissues resulting in or associated with malformations of skeletal tissues (e.g., midface hypoplasia and brachytelephalangism) and cardiovascular defects (e.g., congenital heart defect, peripheral pulmonary artery stenosis, and, in some cases, arterial calcification), and also hearing loss and mild developmental delay. While studies on Mgp-/- mouse, a faithful model of KS, show that pathologic mineral deposition (ectopic calcification) in cartilaginous and vascular tissues is the primary cause underlying many of these abnormalities, the mechanisms explaining how MGP prevents abnormal calcification remain poorly understood. This has negative implication for the development of a cure for KS. Indeed, at present, only symptomatic treatments are available to treat hypertension and respiratory complications occurring in the KS patients. In this review, we summarize the results published in the last 50 years on Keutel syndrome and present the current status of the knowledge on this rare pathology.CA-16115 - EJPRD2019-290 - UIDB/04326/2020Frontiers Media SASapientiaCancela, M. LeonorLaizé, VincentConceição, NatérciaKempf, HervéMurshed, Monzur2021-05-24T13:04:42Z2021-042021-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.1/15495eng2296-634X10.3389/fcell.2021.642136info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-24T10:27:55Zoai:sapientia.ualg.pt:10400.1/15495Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:06:21.387345Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Keutel Syndrome, a review of 50 years of literature |
title |
Keutel Syndrome, a review of 50 years of literature |
spellingShingle |
Keutel Syndrome, a review of 50 years of literature Cancela, M. Leonor Matrix gla protein Peripheral pulmonary stenosis K-dependent carboxylase MGP expression Breast-cancer Follow-up Calcification Deficiency Mutations Promoter |
title_short |
Keutel Syndrome, a review of 50 years of literature |
title_full |
Keutel Syndrome, a review of 50 years of literature |
title_fullStr |
Keutel Syndrome, a review of 50 years of literature |
title_full_unstemmed |
Keutel Syndrome, a review of 50 years of literature |
title_sort |
Keutel Syndrome, a review of 50 years of literature |
author |
Cancela, M. Leonor |
author_facet |
Cancela, M. Leonor Laizé, Vincent Conceição, Natércia Kempf, Hervé Murshed, Monzur |
author_role |
author |
author2 |
Laizé, Vincent Conceição, Natércia Kempf, Hervé Murshed, Monzur |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Sapientia |
dc.contributor.author.fl_str_mv |
Cancela, M. Leonor Laizé, Vincent Conceição, Natércia Kempf, Hervé Murshed, Monzur |
dc.subject.por.fl_str_mv |
Matrix gla protein Peripheral pulmonary stenosis K-dependent carboxylase MGP expression Breast-cancer Follow-up Calcification Deficiency Mutations Promoter |
topic |
Matrix gla protein Peripheral pulmonary stenosis K-dependent carboxylase MGP expression Breast-cancer Follow-up Calcification Deficiency Mutations Promoter |
description |
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patients with KS are usually diagnosed during childhood (early onset of the disease), and the major traits include abnormal calcification of cartilaginous tissues resulting in or associated with malformations of skeletal tissues (e.g., midface hypoplasia and brachytelephalangism) and cardiovascular defects (e.g., congenital heart defect, peripheral pulmonary artery stenosis, and, in some cases, arterial calcification), and also hearing loss and mild developmental delay. While studies on Mgp-/- mouse, a faithful model of KS, show that pathologic mineral deposition (ectopic calcification) in cartilaginous and vascular tissues is the primary cause underlying many of these abnormalities, the mechanisms explaining how MGP prevents abnormal calcification remain poorly understood. This has negative implication for the development of a cure for KS. Indeed, at present, only symptomatic treatments are available to treat hypertension and respiratory complications occurring in the KS patients. In this review, we summarize the results published in the last 50 years on Keutel syndrome and present the current status of the knowledge on this rare pathology. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-05-24T13:04:42Z 2021-04 2021-04-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.1/15495 |
url |
http://hdl.handle.net/10400.1/15495 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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2296-634X 10.3389/fcell.2021.642136 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
Frontiers Media SA |
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Frontiers Media SA |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799133304759255040 |