Haut und innere Sekretion

Strandberg, James

doi:10.1007/978-3-7091-5343-7_2

Cited by 8 publications

(3 citation statements)

References 67 publications

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“…It was Darier [27] who identified these symptoms as a clinical entity, which he named "pseudoxanthome élastique". This term remains largely used to this day as pseudoxanthoma elasticum [29]. Angioid streaks in the retina were first described by Doyne in 1889.…”

Section: A Brief Historymentioning

confidence: 99%

“…Angioid streaks in the retina were first described by Doyne in 1889. Two ophthalmologists, Gröenblad and Strandberg, defined the association between angioid streaks and PXE in 1929 and used the term Gröenblad-Strandberg syndrome, which is now rarely used [28,29]. Although many publications were published in the intervening decades, mostly clinical and descriptive studies, the main turns of events came with the identification of the PXE gene in 2000 [8][9][10] and with the generation of knockout mice in 2005 [30,31].…”

Section: A Brief Historymentioning

confidence: 99%

“…ABCC6 belongs to the ATP-binding cassettes (ABC) superfamily, the largest family of transmembrane proteins. These proteins bind and hydrolyze [28,29] ATP to drive the transport of a wide variety of molecules across cell membranes. Genetic alterations in at least 14 of these genes cause heritable diseases [39,40].…”

Section: The Pxe Gene [21]mentioning

confidence: 99%

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The Purinergic Nature of Pseudoxanthoma Elasticum

Kauffenstein,

Martin,

Le Saux

2024

Biology

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Pseudoxanthoma Elasticum (PXE) is an inherited disease characterized by elastic fiber calcification in the eyes, the skin and the cardiovascular system. PXE results from mutations in ABCC6 that encodes an ABC transporter primarily expressed in the liver and kidneys. It took nearly 15 years after identifying the gene to better understand the etiology of PXE. ABCC6 function facilitates the efflux of ATP, which is sequentially hydrolyzed by the ectonucleotidases ENPP1 and CD73 into pyrophosphate (PPi) and adenosine, both inhibitors of calcification. PXE, together with General Arterial Calcification of Infancy (GACI caused by ENPP1 mutations) as well as Calcification of Joints and Arteries (CALJA caused by NT5E/CD73 mutations), forms a disease continuum with overlapping phenotypes and shares steps of the same molecular pathway. The explanation of these phenotypes place ABCC6 as an upstream regulator of a purinergic pathway (ABCC6 → ENPP1 → CD73 → TNAP) that notably inhibits mineralization by maintaining a physiological Pi/PPi ratio in connective tissues. Based on a review of the literature and our recent experimental data, we suggest that PXE (and GACI/CALJA) be considered as an authentic “purinergic disease”. In this article, we recapitulate the pathobiology of PXE and review molecular and physiological data showing that, beyond PPi deficiency and ectopic calcification, PXE is associated with wide and complex alterations of purinergic systems. Finally, we speculate on the future prospects regarding purinergic signaling and other aspects of this disease.

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Section: A Brief Historymentioning

confidence: 99%