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Sebastian Gorgonius Passon, Viviane Küllmar, Anna Katharina Blatzheim, Kristin Solveig Pausewang, Max Jonathan Stumpf, Doris Hendig, Martin Gliem, Simon Pingel, Robert Schueler, Dirk Skowasch, Najib Schahab, Georg Nickenig, Christian Alexander Schaefer
Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). All participants underwent an angiological examination including ankle-brachial index (ABI) and were examined with speckle-tracking based vascular strain analysis of common carotid arteries, measuring radial displacement (r...
February 2018: Intractable & Rare Diseases Research
G Perazzolli, G Girolomoni, C Colato, D Quaglino
Pseudoxanthoma elasticum (PXE, OMIM 264800) is an autosomal recessive disorder in which elastic fibers of skin, eyes, and cardiovascular system become progressively calcified, causing a spectrum of manifestations with a variable phenotype. The proposed prevalence of PXE is 1/25 000, but this might be an underestimate. PXE is associated with mutations in the ABCC6 (ATP binding cassette subtype C number 6) gene. This article is protected by copyright. All rights reserved.
March 10, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
G Kauffenstein, G G Yegutkin, S Khiati, V Pomozi, O Le Saux, G Leftheriotis, G Lenaers, D Henrion, L Martin
Pseudoxanthoma elasticum (PXE) is a rare genetic condition primarily caused by hepatic ABCC6 transporter dysfunction. Most clinical manifestations of PXE are due to premature calcification of elastic fibers. However, the vascular impact of PXE is pleiotropic and remains ill-defined. ABCC6 expression has recently been associated with cellular nucleotide export. We studied the impact of ABCC6 deficiency on blood levels of adenosine triphosphate (ATP) and related metabolites and on soluble nucleotidase activities in PXE patients and Abcc6-/- mice...
February 28, 2018: Journal of Investigative Dermatology
J M Ebran, L Martin, Leftheriotis, N Navasiolava, M Ferre, D Milea, S Leruez
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients...
February 26, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Laura N Eadie, Phuong Dang, Jarrad M Goyne, Timothy P Hughes, Deborah L White
ATP Binding Cassette family efflux proteins ABCB1 and ABCG2 have previously been demonstrated to interact with Tyrosine Kinase Inhibitors (TKIs); however, evidence for the interaction of other potentially relevant drug transporters with TKIs is lacking. Through Taqman transporter array technology we assessed the impact of nilotinib on mRNA expression of ABC transporters, with ABCC6 identified as a transporter of interest. Additionally, increased expression of ABCC6 mRNA was observed during in vitro development of nilotinib resistance in BCR-ABL1-expressing cell lines...
2018: PloS One
Tacy Santana Machado, Stéphane Poitevin, Pascale Paul, Nathalie McKay, Noémie Jourde-Chiche, Tristan Legris, Annick Mouly-Bandini, Françoise Dignat-George, Philippe Brunet, Rosalinde Masereeuw, Stéphane Burtey, Claire Cerini
In patients with CKD, not only renal but also, nonrenal clearance of drugs is altered. Uremic toxins could modify the expression and/or activity of drug transporters in the liver. We tested whether the uremic toxin indoxyl sulfate (IS), an endogenous ligand of the transcription factor aryl hydrocarbon receptor, could change the expression of the following liver transporters involved in drug clearance: SLC10A1 , SLC22A1 , SLC22A7 , SLC47A1 , SLCO1B1 , SLCO1B3 , SLCO2B1 , ABCB1 , ABCB11 , ABCC2 , ABCC3 , ABCC4 , ABCC6 , and ABCG2 We showed that IS increases the expression and activity of the efflux transporter P-glycoprotein (P-gp) encoded by ABCB1 in human hepatoma cells (HepG2) without modifying the expression of the other transporters...
March 2018: Journal of the American Society of Nephrology: JASN
A Dibi, N Mouane, E El Fahime, R Dafiri, A Bentahila
INTRODUCTION: Vascular calcifications are associated with several diseases that affect vascular connective tissue and skin and cause considerable morbidity and mortality. The prototype of these conditions is pseudoxanthoma elasticum. We report, in this study, 4 pediatric cases of vascular calcifications diagnosed as elastic pseudoxanthoma. OBSERVATIONS: These 4 children were 2-11 years old and presented variable clinical features. Vascular involvement and arterial hypertension was observed in all patients, skin involvement in 2 cases, gastrointestinal involvement in 2 cases, neurological impairment in one case, and cardiac involvement in one case...
December 2017: Journal de Médecine Vasculaire
Hoda Soleymani Abyaneh, Nidhi Gupta, Aneta Radziwon-Balicka, Paul Jurasz, John Seubert, Raymond Lai, Afsaneh Lavasanifar
Hypoxia-induced chemoresistance (HICR) is a well-recognized phenomenon, and in many experimental models, hypoxia inducible factor-1α (HIF-1α) is believed to be a key player. We aimed to better understand the mechanism underlying HICR in a triple negative breast cancer cell line, MDA-MB-231, with a focus on the role of HIF-1α. In this context, the effect of hypoxia on the sensitivity of MDA-MB-231 cells to cisplatin and their stem-like features was evaluated and the role of HIF-1α in both phenomena was assessed...
October 14, 2017: Cancers
Takeshi Fukumoto, Akira Iwanaga, Atsushi Fukunaga, Mari Wataya-Kaneda, Yuta Koike, Chikako Nishigori, Atsushi Utani
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease, characterized by mineralization and degeneration of the elastic fibers in the skin, retina, and cardiovascular system.(1-4) PXE is caused by mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, but it remains unknown how these mutations lead to the clinical phenotype.(2-4) Although an association between mutations and phenotypes has been postulated, no definite correlation has been established.(5) Patients with PXE usually exhibit typical skin lesions that are frequently the first diagnostic signs...
October 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
Satoshi Katagiri, Yuya Negishi, Kei Mizobuchi, Mitsuyoshi Urashima, Tadashi Nakano, Takaaki Hayashi
PURPOSE: To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). PATIENTS AND METHODS: This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing. RESULTS: Eight ABCC6 variants were identified as candidate disease-causing variants...
2017: Journal of Ophthalmology
Guillaume Favre, Audrey Laurain, Tamas Aranyi, Flora Szeri, Krisztina Fulop, Olivier Le Saux, Christophe Duranton, Gilles Kauffenstein, Ludovic Martin, Georges Lefthériotis
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is preponderant in the elastin-rich tissues of the skin, eyes and blood vessel walls. After discovery of the causative gene of the disease in 2000, the function of the ABCC6 protein remains elusive...
September 11, 2017: International Journal of Molecular Sciences
Isabel Faust, Elfi Donhauser, Bastian Fischer, Bettina Ibold, Joachim Kuhn, Cornelius Knabbe, Doris Hendig
Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder which is caused by ABCC6 (ATP-binding cassette subfamily C member 6) gene mutations. Characteristic hallmarks of PXE are progressive calcification and degradation of the elastic fibers in skin, cardiovascular system and ocular fundus. Since the underlying pathomechanisms of PXE remain unidentified, the aim of this study was to get new insights into PXE pathophysiology by characterizing dermal myofibroblast differentiation. Fibroblasts are the key cells of extracellular matrix (ECM) remodeling and, therefore, participate not only in physiological processes, such as calcification or wound healing, but also in pathologic events, such as fibrotization...
November 15, 2017: Experimental Cell Research
Dóra Dedinszki, Flóra Szeri, Eszter Kozák, Viola Pomozi, Natália Tőkési, Tamás Róbert Mezei, Kinga Merczel, Emmanuel Letavernier, Ellie Tang, Olivier Le Saux, Tamás Arányi, Koen van de Wetering, András Váradi
Various disorders including pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI), which are caused by inactivating mutations in ABCC6 and ENPP1, respectively, present with extensive tissue calcification due to reduced plasma pyrophosphate (PPi). However, it has always been assumed that the bioavailability of orally administered PPi is negligible. Here, we demonstrate increased PPi concentration in the circulation of humans after oral PPi administration. Furthermore, in mouse models of PXE and GACI, oral PPi provided via drinking water attenuated their ectopic calcification phenotype...
November 2017: EMBO Molecular Medicine
Karobi Moitra, Sonia Garcia, Michelle Jaldin, Clementine Etoundi, Donna Cooper, Anna Roland, Patrice Dixon, Sandra Reyes, Sevilay Turan, Sharon Terry, Michael Dean
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver. PXE has high phenotypic variability, which may possibly be affected by several modifier genes. Disease advocacy organizations have had a pivotal role in bringing rare disease research to the forefront and in helping to sustain research funding for rare genetic diseases in order to help find a treatment for these diseases, pseudoxanthoma elasticum included...
July 11, 2017: International Journal of Molecular Sciences
Ludovic Martin, Emmanuel Hoppé, Gilles Kauffenstein, Loukman Omarjee, Nastassia Navasiolava, Samir Henni, Serge Willoteaux, Georges Leftheriotis
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE; OMIM 264800, prevalence 1/25,000 to 1/50,000) is an autosomal recessive multisystem disease due to deficiency in ABCC6, an ATP-binding cassette, sub-family C transporter. The PXE phenotype is mainly characterized by progressive ectopic calcification of connective tissues (namely skin, retinal Bruch's membrane and peripheral arteries) but the impact of PXE on bone structure is currently unknown. The present study sought to investigate bone mineralization and its potential link with vascular calcification in a large cohort of PXE patients with inherited mutations of the ABCC6 gene...
June 27, 2017: Bone
Jingyi Zhao, Joshua Kingman, John P Sundberg, Jouni Uitto, Qiaoli Li
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused in most cases by inactivating mutations in the ABCC6 gene. It was recently discovered that absence of ABCC6-mediated adenosine triphosphate release from the liver and consequently reduced plasma inorganic pyrophosphate (PPi) levels underlie PXE. This study examined whether reduced levels of circulating PPi, an antimineralization factor, is the sole mechanism of PXE. The Abcc6-/- and Enpp1asj mice were crossed with transgenic mice expressing human ENPP1, an ectonucleotidase that generates PPi from adenosine triphosphate...
November 2017: Journal of Investigative Dermatology
Radosław Januchowski, Karolina Sterzyńska, Piotr Zawierucha, Marcin Ruciński, Monika Świerczewska, Małgorzata Partyka, Katarzyna Bednarek-Rajewska, Maciej Brązert, Michał Nowicki, Maciej Zabel, Andrzej Klejewski
PURPOSE: The present study is to discover a new genes associated with drug resistance development in ovarian cancer. METHODS: We used microarray analysis to determine alterations in the level of expression of genes in cisplatin- (CisPt), doxorubicin- (Dox), topotecan- (Top), and paclitaxel- (Pac) resistant variants of W1 and A2780 ovarian cancer cell lines. Immunohistochemistry assay was used to determine protein expression in ovarian cancer patients. RESULTS: We observed alterations in the expression of 22 genes that were common to all three cell lines that were resistant to the same cytostatic drug...
July 25, 2017: Oncotarget
Shira G Ziegler, Carlos R Ferreira, Elena Gallo MacFarlane, Ryan C Riddle, Ryan E Tomlinson, Emily Y Chew, Ludovic Martin, Chen-Ting Ma, Eduard Sergienko, Anthony B Pinkerton, José Luis Millán, William A Gahl, Harry C Dietz
Biallelic mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a disease characterized by calcification in the skin, eyes, and blood vessels. The function of ATP-binding cassette C6 (ABCC6) and the pathogenesis of PXE remain unclear. We used mouse models and patient fibroblasts to demonstrate genetic interaction and shared biochemical and cellular mechanisms underlying ectopic calcification in PXE and related disorders caused by defined perturbations in extracellular adenosine 5'-triphosphate catabolism...
June 7, 2017: Science Translational Medicine
Rocchina Miglionico, Angela Ostuni, Maria Francesca Armentano, Luigi Milella, Elvira Crescenzi, Monica Carmosino, Faustino Bisaccia
BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by progressive ectopic mineralization of elastic fibers in dermal, ocular and vascular tissues. No effective treatment exists. It is caused by inactivating mutations in the gene encoding for the ATP-binding cassette, sub-family C member 6 transporter (ABCC6), which is mainly expressed in the liver. The ABCC6 substrate (s) and the PXE pathomechanism remain unknown. Recent studies have shown that overexpression of ABCC6 in HEK293 cells results in efflux of ATP, which is rapidly converted into nucleoside monophosphates and pyrophosphate (PPi)...
2017: Cellular & Molecular Biology Letters
Dominique P Germain
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas...
May 10, 2017: Orphanet Journal of Rare Diseases
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