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https://www.readbyqxmd.com/read/29042385/association-between-malignancies-and-marfan-syndrome-a-population-based-nested-case-control-study-in-taiwan
#1
Chin-Wang Hsu, Jen-Chun Wang, Wen-I Liao, Wu-Chien Chien, Chi-Hsiang Chung, Chang-Huei Tsao, Yung-Fu Wu, Min-Tser Liao, Shih-Hung Tsai
OBJECTIVE: Marfan syndrome (MFS) involves a deficiency of the structural extracellular matrix component fibrillin-1 and overactivation of the transforming growth factor-β (TGF-β) signalling pathway. The TGF-β signalling pathway also actively participates in malignant transformation. Although anecdotal case reports have suggested associations between MFS/MFS-like conditions and several haematological and solid malignancies, such associations have not been thoroughly evaluated in large-scale studies...
October 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/28993736/pathogenic-mechanisms-of-bicuspid-aortic-valve-aortopathy
#2
REVIEW
Noor M Yassine, Jasmine T Shahram, Simon C Body
Bicuspid aortic valve (BAV) is the most common congenital valvular defect and is associated with ascending aortic dilation (AAD) in a quarter of patients. AAD has been ascribed both to the hemodynamic consequences of normally functioning and abnormal BAV morphology, and to the effect of rare and common genetic variation upon function of the ascending aortic media. AAD manifests in two overall and sometimes overlapping phenotypes: that of aortic root aneurysm, similar to the AAD of Marfan syndrome; and that of tubular AAD, similar to the AAD seen with tricuspid aortic valves (TAVs)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28991210/a-central-bioactive-region-of-ltbp-2-stimulates-the-expression-of-tgf-%C3%AE-1-in-fibroblasts-via-akt-and-p38-signalling-pathways
#3
Mohamed A Sideek, Joshua Smith, Clementine Menz, Julian R J Adams, Allison J Cowin, Mark A Gibson
Latent transforming growth factor-β-1 binding protein-2 (LTBP-2) belongs to the LTBP-fibrillin superfamily of extracellular proteins. Unlike other LTBPs, LTBP-2 does not covalently bind transforming growth factor-β1 (TGF-β1) but appears to be implicated in the regulation of TGF-β1 bioactivity, although the mechanisms are largely unknown. In experiments originally designed to study the displacement of latent TGF-β1 complexes from matrix storage, we found that the addition of exogenous LTBP-2 to cultured human MSU-1...
October 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28944857/a-novel-fbn1-mutation-causes-autosomal-dominant-marfan-syndrome
#4
Ying Xiao, Xiaoqi Liu, Xiaoxin Guo, Liping Liu, Linxin Jiang, Qi Wang, Bo Gong
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, cardiovascular and ophthalmologic examinations. Genomic DNA samples were collected from the family along with 383 unrelated healthy subjects...
September 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28905442/fell-muir-lecture-fibrillin-microfibrils-structural-tensometers-of-elastic-tissues
#5
REVIEW
Cay M Kielty
Fibrillin microfibrils are indispensable structural elements of connective tissues in multicellular organisms from early metazoans to humans. They have an extensible periodic beaded organization, and support dynamic tissues such as ciliary zonules that suspend the lens. In tissues that express elastin, including blood vessels, skin and lungs, microfibrils support elastin deposition and shape the functional architecture of elastic fibres. The vital contribution of microfibrils to tissue form and function is underscored by the heritable fibrillinopathies, especially Marfan syndrome with severe elastic, ocular and skeletal tissue defects...
August 2017: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/28901506/whole-exome-sequencing-identifies-fbn1-mutations-in-two-patients-with-early%C3%A2-onset-type-b-aortic-dissection
#6
Qian Han, Wenwen Zhang, Changjian Liu, Min Zhou, Feng Ran, Long Yi, Xitai Sun, Zhao Liu
The etiology of thoracic aortic aneurysm and dissection (TAAD) is complex and heterogeneous. Emerging evidence has demonstrated that genetic causes may be a consideration in early‑onset TAAD. Owing to overlapping clinical phenotypes and the genetic heterogeneity of TAAD, it is challenging for clinicians to make a molecular diagnosis of TAAD, particularly in those who present with non‑specific syndromic features. In order to identify the causative mutation in two young patients with acute type B aortic dissection without syndromic features, whole exome sequencing (WES) was performed in the present study...
August 31, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901407/colon-cancer-recurrence%C3%A2-associated-genes-revealed-by-wgcna-co%C3%A2-expression-network-analysis
#7
Xiaofeng Zhai, Qingfeng Xue, Qun Liu, Yuyu Guo, Zhe Chen
The present study aimed to identify the recurrence‑associated genes in colon cancer, which may provide theoretical evidence for the development of novel methods to prevent tumor recurrence. Colon cancer and matched normal samples microarray data (E‑GEOD‑39582) were downloaded from ArrayExpress. Genes with significant variation were identified, followed by the screening of differentially expressed genes (DEGs). Subsequently, the co‑expression network of DEGs was constructed using the weighted correlation network analysis (WGCNA) method, which was verified using the validation dataset...
August 31, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28871432/comparative-physiological-and-proteomic-analyses-reveal-different-adaptive-strategies-by-cymbidium-sinense-and-c-tracyanum-to-drought
#8
Jia-Wei Li, Xiao-Dong Chen, Xiang-Yang Hu, Lan Ma, Shi-Bao Zhang
A terrestrial orchid, Cymbidium sinense appears to utilizes "remedy strategy", while an epiphytic orchid, C. tracyanum , employs a "precaution strategy" to drought stress based on morphological, physiological and proteomic analysis. Drought condition influences plant growth and productivity. Although the mechanism by which plants adapt to this abiotic stress has been studied extensively, the water-adaptive strategies of epiphytes grown in water-limited habitats remain undefined. Here, root and leaf anatomies, dynamic changes in physiological and proteomic responses during periods of drought stress and recovery studied in an epiphytic orchid (Cymbidium tracyanum) and a terrestrial orchid (C...
September 4, 2017: Planta
https://www.readbyqxmd.com/read/28860021/disruption-of-fibronectin-matrix-affects-type-iv-collagen-fibrillin-and-laminin-deposition-into-extracellular-matrix-of-human-trabecular-meshwork-htm-cells
#9
Mark S Filla, Kaylee D Dimeo, Tiegang Tong, Donna M Peters
Fibronectin fibrils are a major component of the extracellular matrix (ECM) of the trabecular meshwork (TM). They are a key mediator of the formation of the ECM which controls aqueous humor outflow and contributes to the pathogenesis of glaucoma. The purpose of this work was to determine if a fibronectin-binding peptide called FUD, derived from the Streptococcus pyogenes Functional Upstream Domain of the F1 adhesin protein, could be used to control fibronectin fibrillogenesis and hence ECM formation under conditions where its expression was induced by treatment with the glucocorticoid dexamethasone...
August 30, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28846936/a-new-in-vitro-assay-to-test-uvr-protection-of-dermal-extracellular-matrix-components-by-a-flat-spectrum-sunscreen
#10
S A Hibbert, P Costello, C O'Connor, M Bell, C E M Griffiths, R E B Watson, M J Sherratt
The efficacy of topical sunscreens is currently assessed by crude, costly and time consuming in vivo assays. We have previously demonstrated that components of the dermal extracellular matrix (ECM), rich in UV-absorbing amino acids, are susceptible to damage by solar simulated radiation (SSR) in vitro. Here we developed an in vitro method to test the ability of sunscreens to protect fibrillin-rich microfibrils (FRM) and fibronectin, key components of the dermal ECM from UV-induced damage. Solutions of FRM or fibronectin were irradiated without protection, in the presence of a vehicle or a commercially-available flat-spectrum sunscreen...
August 16, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28829846/racial-differences-in-the-extracellular-matrix-and-histone-acetylation-of-the-lamina-cribrosa-and-peripapillary-sclera
#11
Hae-Young Lopilly Park, Jie Hyun Kim, Younhea Jung, Chan Kee Park
Purpose: We investigated the extracellular matrix (ECM) of the lamina cribrosa (LC) and peripapillary sclera (PPS) and compared histone acetylation and related enzymes to identify racial differences between Korean and Caucasian donor eyes. Methods: Posterior segment tissues were obtained from 30 Caucasian donors and 42 age and axial length-matched Korean donors. Histone modification was assessed for histone deacetylase (HDAC) 2, HDAC3, and acetylated histone H3...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28782645/marfan-syndrome-a-connective-tissue-disease-at-the-crossroads-of-mechanotransduction-tgf%C3%AE-signaling-and-cell-stemness
#12
REVIEW
Francesco Ramirez, Cristina Caescu, Elisabeth Wondimu, Josephine Galatioto
Mutations in fibrillin-1 cause Marfan syndrome (MFS), the most common heritable disorder of connective tissue. Fibrillin-1 assemblies (microfibrils and elastic fibers) represent a unique dual-function component of the architectural matrix. The first role is structural for they endow tissues with tensile strength and elasticity, transmit forces across them and demarcate functionally discrete areas within them. The second role is instructive in that these macroaggregates modulate a large variety of sub-cellular processes by interacting with mechanosensors, and integrin and syndecan receptors, and by modulating the bioavailability of local TGFβ signals...
August 4, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28768908/nonmyocyte-erk1-2-signaling-contributes-to-load-induced-cardiomyopathy-in-marfan-mice
#13
Rosanne Rouf, Elena Gallo MacFarlane, Eiki Takimoto, Rahul Chaudhary, Varun Nagpal, Peter P Rainer, Julia G Bindman, Elizabeth E Gerber, Djahida Bedja, Christopher Schiefer, Karen L Miller, Guangshuo Zhu, Loretha Myers, Nuria Amat-Alarcon, Dong I Lee, Norimichi Koitabashi, Daniel P Judge, David A Kass, Harry C Dietz
Among children with the most severe presentation of Marfan syndrome (MFS), an inherited disorder of connective tissue caused by a deficiency of extracellular fibrillin-1, heart failure is the leading cause of death. Here, we show that, while MFS mice (Fbn1C1039G/+ mice) typically have normal cardiac function, pressure overload (PO) induces an acute and severe dilated cardiomyopathy in association with fibrosis and myocyte enlargement. Failing MFS hearts show high expression of TGF-β ligands, with increased TGF-β signaling in both nonmyocytes and myocytes; pathologic ERK activation is restricted to the nonmyocyte compartment...
August 3, 2017: JCI Insight
https://www.readbyqxmd.com/read/28759179/neonatal-marfan-syndrome-report-of-two-cases
#14
Tomas Jurko, Alexander Jurko, Milan Minarik, Vladimir Micieta, Ingrid Tonhajzerova, Hana Kolarovszka, Mirko Zibolen
Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance...
July 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28750552/human-skin-gene-expression-natural-trans-resveratrol-versus-five-resveratrol-analogs-for-dermal-applications
#15
Edwin D Lephart, Merritt B Andrus
Resveratrol (RV) is a polyphenolic compound naturally produced by plants. Polyphenolic compounds incorporated into medicinal products are beneficial but, RV is rapidly metabolized with an associated decline in biological activity. This study tested RV as the standard and compared five structurally modified RV analogs: butyrate, isobutyrate, palmitoate, acetate, and diacetate (to improve functionality) at 1% concentration(s) for 24 h in epiderm full thickness cultures by gene array/qPCR mRNA analysis. When silent mating type information regulation 2 homolog 1, extracellular elements (collagen1A1, 3A1, 4A1; elastin, tissue inhibitor of matrix metalloproteinase 1, fibrillin 1 laminin beta1 and matrix metalloproteinase 9), anti-aging and aging genes, inflammatory biomarkers (interleukin-1A [IL1A], IL1R2, IL-6 and IL-8), nerve growth factor, and the antioxidants (proliferating cell nuclear antigen, catalase, superoxide dismutase and metallothionein 1H/2H) were evaluated, ranking each from highest-to-lowest for gene expression: butyrate > isobutyrate > diacetate > acetate > palmitoate...
September 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28744027/the-effect-of-ultraviolet-b-on-fibrillin-1-and-fibrillin-2-in-human-non-pigmented-ciliary-epithelial-cells-in-vitro
#16
Yuki Shiroto, Shingo Terashima, Yoichiro Hosokawa, Kyoko Oka, Keitaro Isokawa, Eichi Tsuruga
The ciliary zonules link the lens to the ciliary body in the eye, controlling the thickness of the lens for focusing through their characteristic elasticity. The ciliary zonules are composed of oxytalan fibers. Physiological or pathological damage to the ciliary zonules, including exposure to ultraviolet (UV)-A and UV-B components, can lead to lens dislocation. However, no studies have shown whether UV affects the ciliary zonule. Here, we assessed the effects of UV light on human nonpigmented ciliary epithelial cells (HNPCECs)...
June 26, 2017: Acta Histochemica et Cytochemica
https://www.readbyqxmd.com/read/28717224/fibulin-4-deposition-requires-emilin-1-in-the-extracellular-matrix-of-osteoblasts
#17
Alvise Schiavinato, Douglas R Keene, Thomas Imhof, Roberto Doliana, Takako Sasaki, Gerhard Sengle
Tissue microenvironments formed by extracellular matrix networks play an important role in regulating tissue structure and function. Extracellular microfibrillar networks composed of fibrillins and their associated ligands such as LTBPs, fibulins, and EMILINs are of particular interest in this regard since they provide a specialized cellular microenvironment guiding proper morphology and functional behavior of specialized cell types. To understand how cellular microenvironments composed of intricate microfibrillar networks influence cell fate decisions in a contextual manner, more information about the spatiotemporal localization, deposition, and function of their components is required...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28708846/sex-pregnancy-and-aortic-disease-in-marfan-syndrome
#18
Marjolijn Renard, Laura Muiño-Mosquera, Elise C Manalo, Sara Tufa, Eric J Carlson, Douglas R Keene, Julie De Backer, Lynn Y Sakai
BACKGROUND: Sex-related differences as well as the adverse effect of pregnancy on aortic disease outcome are well-established phenomena in humans with Marfan syndrome (MFS). The underlying mechanisms of these observations are largely unknown. OBJECTIVES: In an initial (pilot) step we aimed to confirm the differences between male and female MFS patients as well as between females with and without previous pregnancy. We then sought to evaluate whether these findings are recapitulated in a pre-clinical model and performed in-depth cardiovascular phenotyping of mutant male and both nulliparous and multiparous female Marfan mice...
2017: PloS One
https://www.readbyqxmd.com/read/28690007/bioreactor-induced-mesenchymal-progenitor-cell-differentiation-and-elastic-fiber-assembly-in-engineered-vascular-tissues
#19
Shigang Lin, Kibret Mequanint
In vitro maturation of engineered vascular tissues (EVT) requires the appropriate incorporation of smooth muscle cells (SMC) and extracellular matrix (ECM) components similar to native arteries. To this end, the aim of the current study was to fabricate 4mm inner diameter vascular tissues using mesenchymal progenitor cells seeded into tubular scaffolds. A dual-pump bioreactor operating either in perfusion or pulsatile perfusion mode was used to generate physiological-like stimuli to promote progenitor cell differentiation, extracellular elastin production, and tissue maturation...
September 1, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28669633/the-n-terminal-region-of-fibrillin-1-mediates-a-bipartite-interaction-with-ltbp1
#20
Ian B Robertson, Hans F Dias, Isabelle H Osuch, Edward D Lowe, Sacha A Jensen, Christina Redfield, Penny A Handford
Fibrillin-1 (FBN1) mutations associated with Marfan syndrome lead to an increase in transforming growth factor β (TGF-β) activation in connective tissues resulting in pathogenic changes including aortic dilatation and dissection. Since FBN1 binds latent TGF-β binding proteins (LTBPs), the major reservoir of TGF-β in the extracellular matrix (ECM), we investigated the structural basis for the FBN1/LTBP1 interaction. We present the structure of a four-domain FBN1 fragment, EGF2-EGF3-Hyb1-cbEGF1 (FBN1(E2cbEGF1)), which reveals a near-linear domain organization...
August 1, 2017: Structure
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