One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology

The discovery of a mutation in a specific gene can be very important for determining the pathophysiology underlying the disease of a patient and may also help to decide the best treatment protocol on an individual basis. However, sometimes the discovery of mutations in new proteins advances our comp...

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Autores: Argente, Jesús, Chowen, Julie A., Pérez Jurado, Luis Alberto, Frystyk, Jan, Oxvig, Claus
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/33477
Acceso en línea:http://hdl.handle.net/10230/33477
http://dx.doi.org/10.15252/emmm.201707950
Access Level:acceso abierto
Palabra clave:IGFBPs
IGF‐1
PAPP‐A
PAPP‐A2
Stanniocalcins (STC1, STC2)
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spelling One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiologyArgente, JesúsChowen, Julie A.Pérez Jurado, Luis AlbertoFrystyk, JanOxvig, ClausIGFBPsIGF‐1PAPP‐APAPP‐A2Stanniocalcins (STC1, STC2)The discovery of a mutation in a specific gene can be very important for determining the pathophysiology underlying the disease of a patient and may also help to decide the best treatment protocol on an individual basis. However, sometimes the discovery of mutations in new proteins advances our comprehension in a more widespread manner. The growth hormone (GH)/insulin‐like growth factor (IGF)‐1 axis is fundamental for systemic growth, but is also involved in many other important processes. Our understanding of this system in physiology and pathophysiology has advanced throughout the years with each discovery of mutations in members of this axis. This review focuses on the most recent discovery: mutations in the metalloproteinase pregnancy‐associated plasma protein‐A2 (PAPP‐A2), one of the proteases involved in liberating IGF‐1 from the complexes in which it circulates, in patients with delayed growth failure. We also discuss the advances in the stanniocalcins (STC1 and STC2), proteins that modulate PAPP‐A2, as well as PAPP‐A. These new advances not only bring us one step closer to understanding the strict spatial and temporal control of this axis in systemic growth and maturation, but also highlight possible therapeutic targets when this system goes awry.The authors are funded by Fondos de Investigación Sanitaria and fondos FEDER (Grants PI1302195 and PI1600485 to JA), Ministerio de Ciencia e Innovación (BFU2014‐51836‐C2‐2‐R to JAC), Centro de Investigación Biomédica en Red Fisiopatología de Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (JA), and Fundación Endocrinología y Nutrición.Wiley-Blackwell201720172017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/33477http://dx.doi.org/10.15252/emmm.201707950reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésEMBO Molecular Medicine. 2017 Oct;9(10):1338-45info:eu-repo/grantAgreement/ES/1PE/BFU2014‐51836‐C2‐2‐R© 2017 The Authors. Published under the terms of the CC BY 4.0 license. This is an open access article under the terms of the Creative Commons Attribution 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/334772026-06-12T07:21:37Z
dc.title.none.fl_str_mv One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
title One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
spellingShingle One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
Argente, Jesús
IGFBPs
IGF‐1
PAPP‐A
PAPP‐A2
Stanniocalcins (STC1, STC2)
title_short One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
title_full One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
title_fullStr One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
title_full_unstemmed One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
title_sort One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
dc.creator.none.fl_str_mv Argente, Jesús
Chowen, Julie A.
Pérez Jurado, Luis Alberto
Frystyk, Jan
Oxvig, Claus
author Argente, Jesús
author_facet Argente, Jesús
Chowen, Julie A.
Pérez Jurado, Luis Alberto
Frystyk, Jan
Oxvig, Claus
author_role author
author2 Chowen, Julie A.
Pérez Jurado, Luis Alberto
Frystyk, Jan
Oxvig, Claus
author2_role author
author
author
author
dc.subject.none.fl_str_mv IGFBPs
IGF‐1
PAPP‐A
PAPP‐A2
Stanniocalcins (STC1, STC2)
topic IGFBPs
IGF‐1
PAPP‐A
PAPP‐A2
Stanniocalcins (STC1, STC2)
description The discovery of a mutation in a specific gene can be very important for determining the pathophysiology underlying the disease of a patient and may also help to decide the best treatment protocol on an individual basis. However, sometimes the discovery of mutations in new proteins advances our comprehension in a more widespread manner. The growth hormone (GH)/insulin‐like growth factor (IGF)‐1 axis is fundamental for systemic growth, but is also involved in many other important processes. Our understanding of this system in physiology and pathophysiology has advanced throughout the years with each discovery of mutations in members of this axis. This review focuses on the most recent discovery: mutations in the metalloproteinase pregnancy‐associated plasma protein‐A2 (PAPP‐A2), one of the proteases involved in liberating IGF‐1 from the complexes in which it circulates, in patients with delayed growth failure. We also discuss the advances in the stanniocalcins (STC1 and STC2), proteins that modulate PAPP‐A2, as well as PAPP‐A. These new advances not only bring us one step closer to understanding the strict spatial and temporal control of this axis in systemic growth and maturation, but also highlight possible therapeutic targets when this system goes awry.
publishDate 2017
dc.date.none.fl_str_mv 2017
2017
2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/33477
http://dx.doi.org/10.15252/emmm.201707950
url http://hdl.handle.net/10230/33477
http://dx.doi.org/10.15252/emmm.201707950
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv EMBO Molecular Medicine. 2017 Oct;9(10):1338-45
info:eu-repo/grantAgreement/ES/1PE/BFU2014‐51836‐C2‐2‐R
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley-Blackwell
publisher.none.fl_str_mv Wiley-Blackwell
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
repository.name.fl_str_mv
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