Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum

Bercovitch, Lionel; Leroux, Timothy; Terry, Sharon F.; Weinstock, Martin A.

doi:10.1111/j.1365-2133.2004.06183.x

Cited by 51 publications

(37 citation statements)

References 23 publications

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“…In addition to primary elastinopathies that have been directly linked to alterations in the elastin gene (supravalvular aortic stenosis, Williams-Beuren syndrome, and cutis laxa (22)(23)(24)), a number of secondary elastinopathies have been described, caused by functional imbalance of other structural and auxiliary factors regulating elastic fiber deposition (Marfan disease, GM-1-gangliosidosis, Morquio B, Hurler disease, Costello syndrome, Ehlers Danlos syndrome, pseudoxanthoma elasticum (10,25,26,(27)(28)(29)). …”

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confidence: 99%

Fluctuations of Intracellular Iron Modulate Elastin Production

Bunda

Kaviani

Hinek

2005

Journal of Biological Chemistry

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Production of insoluble elastin, the major component of elastic fibers, can be modulated by numerous intrinsic and exogenous factors. Because patients with hemolytic disorders characterized with fluctuations in iron concentration demonstrate defective elastic fibers, we speculated that iron might also modulate elastogenesis. In the present report we demonstrate that treatment of cultured human skin fibroblasts with low concentration of iron 2-20 M (ferric ammonium citrate) induced a significant increase in the synthesis of tropoelastin and deposition of insoluble elastin. Northern blot and realtime reverse transcription-PCR analysis revealed that treatment with 20 M iron led to an increase of ϳ3-fold in elastin mRNA levels. Because treatment with an intracellular iron chelator, desferrioxamine, caused a significant decrease in elastin mRNA level and consequent inhibition of elastin deposition, we conclude that iron facilitates elastin gene expression. Our experimental evidence also demonstrates the existence of an opposite effect, in which higher, but not cytotoxic concentrations of iron (100 -400 M) induced the production of intracellular reactive oxygen species that coincided with a significant decrease in elastin message stability and the disappearance of iron-dependent stimulatory effect on elastogenesis. This stimulatory elastogenic effect was reversed, however, in cultures simultaneously treated with high iron concentration (200 M) and the intracellular hydroxyl radical scavenger, dimethylthiourea. Thus, presented data, for the first time, demonstrate the existence of two opposite iron-dependent mechanisms that may affect the steady state of elastin message. We speculate that extreme fluctuations in intracellular iron levels result in impaired elastic fiber production as observed in hemolytic diseases.Mature elastic fibers and laminae provide extensibility and elastic recoil to vascular walls and ligaments and form a connective tissue framework of lungs, elastic cartilage, and skin (1, 2). They are complex structures made of polymeric (insoluble) elastin and 12-nm microfibrils that consist of several glycoproteins, e.g. fibrillins, fibulins, and microfibril-associated glycoproteins (3-6). Elastic fiber formation (elastogenesis) is a complex process involving several intracellular and extracellular events. Cells (fibroblasts, endothelial cells, chondroblasts, or vascular smooth muscle cells) must first synthesize and secrete numerous glycoproteins to form a microfibrillar scaffold upon which tropoelastin, the precursor peptides, are properly assembled and covalently cross-linked by lysyl oxidase into a resilient polymer, insoluble elastin (7-10). Production of elastin reaches its highest levels in the third trimester of the fetal life and steadily decreases during early postnatal development (11,12). In undisturbed tissues, elastic fibers may last over the entire human lifespan (13,14).The net deposition of elastin appears to be controlled on both the transcriptional level (tropoelastin mRNA message express...

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confidence: 99%

Fluctuations of Intracellular Iron Modulate Elastin Production

Bunda

Kaviani

Hinek

2005

Journal of Biological Chemistry

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“…Une é tude portant sur 407 patientes enceintes atteintes de PXE a montré que l'HTA complique 10 % des grossesses, provoque dans moins de 1 % des cas un saignement gastrique ou une complication ré tinienne [6]. Dans 12 % des cas peut être observé e une aggravation des lé sions dermatologiques essentiellement du point de vue esthé tique [6].…”

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“…Dans 12 % des cas peut être observé e une aggravation des lé sions dermatologiques essentiellement du point de vue esthé tique [6].…”

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Analgésie épidurale obstétricale et pseudoxanthome élastique : à propos d’un cas

Clanet

Chantraine

Dewandre

et al. 2011

Annales Françaises d'Anesthésie et de Réanimation

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“…PXE-like syndrome is acquired and has been attributed to oxidative tissue damage caused by hemolysis and iron overload [3]. It is clinically and histopathologically identical to inherited PXE, although less severe, and is mainly manifested by cutaneous, ocular and vascular abnormalities [6][7][8]. We report here two patients with b-thalassemia intermedia (TI) and severe deterioration of visual acuity due to the development of AS.…”

Section: Introductionmentioning

confidence: 96%

Loss of vision associated with angioid streaks in β-thalassemia intermedia

et al. 2007

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An acquired diffuse elastic tissue defect that resembles inherited pseudoxanthoma elasticum (PXE) has been noticed with a significant age-related frequency in hemoglobin disorders, especially beta-thalassemia and has been held responsible for a number of complications observed in these cases, some of which are quite severe. We report here two patients with beta-thalassemia intermedia, who presented with severe visual acuity impairment associated with angioid streaks, the typical ocular manifestation of PXE.

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Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum

Cited by 51 publications

References 23 publications

Fluctuations of Intracellular Iron Modulate Elastin Production

Fluctuations of Intracellular Iron Modulate Elastin Production

Analgésie épidurale obstétricale et pseudoxanthome élastique : à propos d’un cas

Loss of vision associated with angioid streaks in β-thalassemia intermedia

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