Keutel Syndrome, a review of 50 years of literature

Detalhes bibliográficos
Autor(a) principal: Cancela, M. Leonor
Data de Publicação: 2021
Outros Autores: Laizé, Vincent, Conceição, Natércia, Kempf, Hervé, Murshed, Monzur
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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spelling 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
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url http://hdl.handle.net/10400.1/15495
dc.language.iso.fl_str_mv eng
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10.3389/fcell.2021.642136
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dc.publisher.none.fl_str_mv Frontiers Media SA
publisher.none.fl_str_mv Frontiers Media SA
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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