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New developments in the management of achondroplasia

Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway. This inhibits chondrocyte differentiati...

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Autores principales: Högler, Wolfgang, Ward, Leanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Vienna 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7098936/
https://www.ncbi.nlm.nih.gov/pubmed/32144686
http://dx.doi.org/10.1007/s10354-020-00741-6
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author Högler, Wolfgang
Ward, Leanne M.
author_facet Högler, Wolfgang
Ward, Leanne M.
author_sort Högler, Wolfgang
collection PubMed
description Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway. This inhibits chondrocyte differentiation and puts a break on growth plate function, in addition to causing serious medical complications such as foramen magnum and spinal stenosis and upper airway narrowing. A great deal has been learned about complications and consequences of FGFR3 activation and management guidance is evolving aimed to reduce the increased mortality and morbidity in this condition, particularly deaths from spinal cord compression and sleep apnoea in infants and small children. To date, no drugs are licensed for treatment of achondroplasia. Here, we report on the various substances in the drug development pipeline which target elements in molecular disease mechanism such as FGF (fibroblast growth factor) ligands, FGFR3, MAPK signalling as well as the C‑type natriuretic peptide receptor NPR‑B (natriuretic peptide receptor B).
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spelling pubmed-70989362020-03-30 New developments in the management of achondroplasia Högler, Wolfgang Ward, Leanne M. Wien Med Wochenschr Review Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway. This inhibits chondrocyte differentiation and puts a break on growth plate function, in addition to causing serious medical complications such as foramen magnum and spinal stenosis and upper airway narrowing. A great deal has been learned about complications and consequences of FGFR3 activation and management guidance is evolving aimed to reduce the increased mortality and morbidity in this condition, particularly deaths from spinal cord compression and sleep apnoea in infants and small children. To date, no drugs are licensed for treatment of achondroplasia. Here, we report on the various substances in the drug development pipeline which target elements in molecular disease mechanism such as FGF (fibroblast growth factor) ligands, FGFR3, MAPK signalling as well as the C‑type natriuretic peptide receptor NPR‑B (natriuretic peptide receptor B). Springer Vienna 2020-03-06 2020 /pmc/articles/PMC7098936/ /pubmed/32144686 http://dx.doi.org/10.1007/s10354-020-00741-6 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Review
Högler, Wolfgang
Ward, Leanne M.
New developments in the management of achondroplasia
title New developments in the management of achondroplasia
title_full New developments in the management of achondroplasia
title_fullStr New developments in the management of achondroplasia
title_full_unstemmed New developments in the management of achondroplasia
title_short New developments in the management of achondroplasia
title_sort new developments in the management of achondroplasia
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7098936/
https://www.ncbi.nlm.nih.gov/pubmed/32144686
http://dx.doi.org/10.1007/s10354-020-00741-6
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