Martin-Almedina, S; Mansour, S; Ostergaard, P
(2018)
Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?
Journal of Physiology, 596 (6).
pp. 985-992.
ISSN 1469-7793
https://doi.org/10.1113/JP275718
SGUL Authors: Ostergaard, Pia
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Abstract
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action, the mutations identified in GLDF patients cause a loss-of-function mechanism of disease and mutations in DHS patients cause gain-of-function. This raises the question, is the pathogenic disease mechanism behind the fetal oedema the same in the two phenotypes? In this symposium review, we will discuss the two conditions and highlight key questions that remain to be answered. For instance, the perinatal oedema often resolves soon after birth and we are still at a loss to understand why. Are there any mechanisms which could compensate for the faulty PIEZO1 in these patients? Are there physiological changes at birth that are less reliant on the function of PIEZO1? Thus, there is a clear need for further studies into the two disorders, in order to fully understand the role of PIEZO1 in health and disease.
Item Type: |
Article
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Additional Information: |
This is the peer reviewed version of the following article: Martin‐Almedina, S. , Mansour, S. and Ostergaard, P. (2018), Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?. J Physiol, 596: 985-992, which has been published in final form at https://doi.org/10.1113/JP275718. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. |
Keywords: |
Physiology, 06 Biological Sciences, 11 Medical And Health Sciences |
SGUL Research Institute / Research Centre: |
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS) |
Journal or Publication Title: |
Journal of Physiology |
ISSN: |
1469-7793 |
Dates: |
Date | Event |
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14 March 2018 | Published | 13 January 2018 | Published Online | 3 January 2018 | Accepted |
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Publisher License: |
Publisher's own licence |
Projects: |
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URI: |
https://openaccess.sgul.ac.uk/id/eprint/109538 |
Publisher's version: |
https://doi.org/10.1113/JP275718 |
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