A phytic acid analogue INS‐3001 prevents ectopic calcification in an Abcc6 −/− mouse model of pseudoxanthoma elasticum

2021 ◽  
Author(s):  
Ida Joely Jacobs ◽  
Diana Li ◽  
Mattias E. Ivarsson ◽  
Jouni Uitto ◽  
Qiaoli Li
Keyword(s):  
Mouse Model ◽  
Phytic Acid ◽  
Pseudoxanthoma Elasticum ◽  
Ectopic Calcification ◽  
Acid Analogue

scholarly journals Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum

2011 ◽  
Vol 89 (11) ◽  
pp. 1125-1135 ◽  
Author(s):  
Theo G. M. F. Gorgels ◽  
Jan H. Waarsing ◽  
Marjolein Herfs ◽  
Daniëlle Versteeg ◽  
Frank Schoensiegel ◽  
...  
Keyword(s):  
Mouse Model ◽  
Vitamin K ◽  
Pseudoxanthoma Elasticum ◽  
Ectopic Calcification ◽  
Tissue Levels

scholarly journals Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis

2020 ◽  
Vol 22 (1) ◽  
pp. 278
Author(s):  
Jianjian Sun ◽  
Peilu She ◽  
Xu Liu ◽  
Bangjun Gao ◽  
Daqin Jin ◽  
...  
Keyword(s):  
Vitamin K ◽  
Cardiac Fibrosis ◽  
Clinical Manifestations ◽  
Pseudoxanthoma Elasticum ◽  
Matrix Gla Protein ◽  
Ectopic Calcification ◽  
Transcription Activator ◽  
Multisystem Disorder ◽  
Ectopic Mineralization ◽  
Extensive Calcification

Pseudoxanthoma elasticum (PXE), caused by ABCC6/MRP6 mutation, is a heritable multisystem disorder in humans. The progressive clinical manifestations of PXE are accompanied by ectopic mineralization in various connective tissues. However, the pathomechanisms underlying the PXE multisystem disorder remains obscure, and effective treatment is currently available. In this study, we generated zebrafish abcc6a mutants using the transcription activator-like effector nuclease (TALEN) technique. In young adult zebrafish, abcc6a is expressed in the eyes, heart, intestine, and other tissues. abcc6a mutants exhibit extensive calcification in the ocular sclera and Bruch’s membrane, recapitulating part of the PXE manifestations. Mutations in abcc6a upregulate extracellular matrix (ECM) genes, leading to fibrotic heart with reduced cardiomyocyte number. We found that abcc6a mutation reduced levels of both vitamin K and pyrophosphate (PPi) in the serum and diverse tissues. Vitamin K administration increased the gamma-glutamyl carboxylated form of matrix gla protein (cMGP), alleviating ectopic calcification and fibrosis in vertebrae, eyes, and hearts. Our findings contribute to a comprehensive understanding of PXE pathophysiology from zebrafish models.

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?

2011 ◽  
Vol 155 (11) ◽  
pp. 2855-2859 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Bart P. Leroy ◽  
Leon J. Schurgers ◽  
Cees Vermeer ◽  
Paul J. Coucke ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Cutis Laxa ◽  
Ectopic Calcification ◽  
Atypical Presentation

scholarly journals Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase

2017 ◽  
Vol 9 (393) ◽  
pp. eaal1669 ◽  
Author(s):  
Shira G. Ziegler ◽  
Carlos R. Ferreira ◽  
Elena Gallo MacFarlane ◽  
Ryan C. Riddle ◽  
Ryan E. Tomlinson ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Pseudoxanthoma Elasticum ◽  
Ectopic Calcification ◽  
Tissue Nonspecific Alkaline Phosphatase

scholarly journals Vascular Effects of Pseudoxanthoma Elasticum

2021 ◽  
Vol 5 (5) ◽  
pp. 453-461
Author(s):  
Erika Hubbard ◽  
Mark Lebwohl
Keyword(s):  
Vascular Disease ◽  
Peripheral Vascular Disease ◽  
Case Reports ◽  
Pseudoxanthoma Elasticum ◽  
The Body ◽  
Ectopic Calcification ◽  
Peripheral Vascular ◽  
Rete Mirabile ◽  
Pubmed Database ◽  
Carotid Rete Mirabile

Background: Pseudoxanthoma elasticum (PXE) is a rare hereditary disease caused by mutations in the ABCC6 gene, characterized by ectopic calcification of connective tissue throughout the body. Vascular conditions associated with PXE have been well-documented in the literature, but to our knowledge, analysis of the myriad of PXE case reports with associated vascular diseases in addition to larger cohort studies, has not been undertaken. Objective: To review existing literature reporting peripheral vascular disease (PVD), cardiovascular disease (CVD), cerebrovascular disease (CeVD), hypertension, and carotid rete mirabile (CRM) in PXE patients as of June 2021. Methods: A search of the PubMed database using the key words “pseudoxanthoma elasticum” and “vascular” was performed. Results: A total of 345 cases of PVD, 97 cases of CVD, and 123 case of CeVD were reported.  Additionally, 88 cases of hypertension and 5 cases of CRM were reported. Conclusions: PXE patients are at risk of developing serious vascular conditions, particularly peripheral vascular disease.  This condition also appears to have some connection to carotid rete mirabile, which is extremely rare in humans.  Further research should be conducted to analyze the connection between PXE and CRM in order to better understand and treat both conditions.

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