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Desmoplakin

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https://www.readbyqxmd.com/read/28527814/desmoplakin-missense-and-non-missense-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy-genotype-phenotype-correlation
#1
Silvia Castelletti, Annina S Vischer, Petros Syrris, Lia Crotti, Carla Spazzolini, Alice Ghidoni, Gianfranco Parati, Sharon Jenkins, Maria-Christina Kotta, William J McKenna, Peter J Schwartz, Antonis Pantazis
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations are scant and mostly non gene-specific. Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing ARVC. METHODS AND RESULTS: We analyzed 27 ARVC patients carrying a missense or a non-missense DSP mutation, with complete clinical assessment...
May 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28495795/the-desmoplakin-intermediate-filament-linkage-regulates-cell-mechanics
#2
Joshua A Broussard, Ruiguo Yang, Changjin Huang, S Shiva P Nathamgari, Allison M Beese, Lisa M Godsel, Sherry Lee, Fan Zhou, Nathan J Sniadecki, Kathleen J Green, Horacio D Espinosa
The translation of mechanical forces into biochemical signals plays a central role in guiding normal physiological processes during tissue development and homeostasis. Interfering with this process contributes to cardiovascular disease, cancer progression, and inherited disorders. The actin-based cytoskeleton and its associated adherens junctions are well-established contributors to mechanosensing and transduction machinery; however, the role of the desmosome/intermediate filament network is poorly understood in this context...
May 11, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28490445/serological-epithelial-component-proteins-identify-intestinal-complications-in-crohn-s-disease
#3
Yunki Y Yau, Rupert Wl Leong, Aviv Pudipeddi, Diane Redmond, Valerie C Wasinger
Crohns Disease (CD) is a relapsing inflammation of the gastrointestinal tract that affects a young working age population and is increasing in developing countries. Half of all sufferers will experience stricturing or fistulizing intestinal complications that require extensive surgical interventions and neither genes nor clinical risk factors can predict this debilitating natural history. We applied discovery and verification phase studies as part of an NCI-FDA modelled biomarker pipeline to identify differences in the low-mass (<25kDa) blood-serum proteome between CD behavioural phenotypes...
May 10, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#4
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28370659/relevance-of-wnt10b-and-activation-of-%C3%AE-catenin-gcma-syncytin-1-pathway-in-bewo-cell-fusion
#5
Sudha Saryu Malhotra, Priyanka Banerjee, Piyush Chaudhary, Rahul Pal, Satish Kumar Gupta
PROBLEM: To study the involvement of specific Wnt(s) ligand during trophoblastic BeWo cell differentiation. METHOD OF STUDY: BeWo cells on treatment with forskolin/human chorionic gonadotropin (hCG) were studied for cell fusion by desmoplakin I+II staining and/or hCG secretion by ELISA. Levels of Wnt10b/β-catenin/glial cell missing a (GCMa)/syncytin-1 were studied by qPCR/Western blotting in forskolin-/hCG-treated control siRNA and Wnt10b silenced BeWo cells. RESULTS: BeWo cells on treatment with hCG (5 IU/mL) led to a 94-fold increase in Wnt10b transcript...
March 30, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28323918/elucidating-the-role-of-the-desmosome-protein-p53-apoptosis-effector-related-to-pmp-22-perp-in-growth-hormone-tumors
#6
Katja Kiseljak-Vassiliades, Taylor S Mills, Yu Zhang, Mei Xu, Kevin O Lillehei, B K Kleinschmidt-DeMasters, Margaret E Wierman
Purpose: Densely granulated (DG) and sparsely granulated (SG) growth hormone (GH) pituitary adenomas differ in biological behavior which may be correlated with their known differences in cytoplasmic keratin distribution and E-cadherin expression. We desired to explore candidate genes which might further explain this behavior. Methods: Exon expression microarray was performed on 21 GH tumors (10 SG and 11 DG) and 20 normal control pituitaries from autopsy. Results: Bioinformatic analyses confirmed a differential molecular signature between normal pituitary and GH tumors as well as between the GH tumor subtypes...
February 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28256248/whole-exome-sequencing-identifies-a-novel-mutation-of-desmocollin-2-in-a-chinese-family-with-arrhythmogenic-right-ventricular-cardiomyopathy
#7
Ji-Shi Liu, Liang-Liang Fan, Jing-Jing Li, Rong Xiang
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, including Desmoplakin, Plakophilin 2, Desmoglein 2, Desmocollin 2, and Junction plakoglobin...
May 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28123351/involvement-of-rictor-mtorc2-in-cardiomyocyte-differentiation-of-mouse-embryonic-stem-cells-in-vitro
#8
Bei Zheng, Jiadan Wang, Leilei Tang, Chao Tan, Zhe Zhao, Yi Xiao, Renshan Ge, Danyan Zhu
Rictor is a key regulatory/structural subunit of the mammalian target of rapamycin complex 2 (mTORC2) and is required for phosphorylation of Akt at serine 473. It plays an important role in cell survival, actin cytoskeleton organization and other processes in embryogenesis. However, the role of Rictor/mTORC2 in the embryonic cardiac differentiation has been uncovered. In the present study, we examined a possible link between Rictor expression and cardiomyocyte differentiation of the mouse embryonic stem (mES) cells...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28094886/the-parathyroid-hormone-family-member-tip39-interacts-with-sarco-endoplasmic-reticulum-ca-2-atpase-activity-by-influencing-calcium-homeostasis
#9
Emi Sato, Michael R Williams, James A Sanford, George L Sen, Takekuni Nakama, Shinichi Imafuku, Richard L Gallo
Darier disease (DD) is a genetic skin disease that is associated with mutations in the ATP2A2 gene encoding the type 2 sarco/endoplasmic reticulum Ca(2+) -ATPase (SERCA2). Mutations of this gene result in alterations of calcium homeostasis, abnormal epidermal adhesion and dyskeratosis. Silencing of ATP2A2 in monolayer cell culture of keratinocytes reduces desmoplakin expression at the borders of cells and impacts cell adhesion. Here, we report establishment of a three-dimensional (3D) epidermal model of DD, and use this model to evaluate peptide therapy with tuberoinfundibular peptide of 39 residues (TIP39) to normalize calcium transport...
January 17, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28078185/cxcl11-expression-by-keratinocytes-occurs-transiently-between-reaching-confluence-and-cellular-compaction
#10
Arthur C Huen, Archana Marathi, Peter K Nam, Alan Wells
Objective: To investigate whether differentiation or cellular confluence is responsible for CXCL11 expression patterns in re-epithelialization. Approach:In vitro model systems of re-epithelialization using the HaCaT keratinocyte cell line were utilized in monitoring expression of differentiation markers, including desmoplakin and various cytokeratins while evaluating for an association with chemokine CXCL11 expression. Results: CXCL11 expression was elevated in sparse culture with peak expression near the time of confluence...
December 1, 2016: Advances in Wound Care
https://www.readbyqxmd.com/read/27931536/advances-in-atopic-dermatitis-in-2015
#11
REVIEW
Takashi Nomura, Kenji Kabashima
This review aims to highlight recently published articles on atopic dermatitis (AD). Updated are the insights into epidemiology, pathology, diagnostics, and therapy. Epidemiologic studies have revealed a positive correlation between AD and systemic conditions, such as rheumatoid arthritis, inflammatory bowel disease, and neonatal adiposity. Pathologic findings highlight the involvement of novel barrier factors (desmoplakin and claudin), novel immune cell subsets (pathogenic effector TH2 cells and group 2 innate lymphoid cells), and differential skewing of helper T cells (eg, TH17 dominance in Asians with AD)...
December 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27919765/late-gadolinium-enhancement-in-brugada-syndrome-a-marker-for-subtle-underlying-cardiomyopathy
#12
Rachel Bastiaenen, Andrew T Cox, Silvia Castelletti, Yanushi D Wijeyeratne, Nicholas Colbeck, Nadia Pakroo, Hammad Ahmed, Nick Bunce, Lisa Anderson, James C Moon, Sanjay Prasad, Sanjay Sharma, Elijah R Behr
BACKGROUND: There is increasing evidence that the Brugada ECG pattern is a marker of subtle structural heart disease. OBJECTIVE: The purpose of this study was to characterize patients with Brugada syndrome (BrS) using cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE). METHODS: BrS was diagnosed according to international guidelines. Twenty-six percent of patients with BrS carried SCN5A mutations. CMR data from 78 patients with BrS were compared with 78 healthy controls (44 ± 15 vs 42 ± 14 years; P = ...
April 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27889952/effects-of-different-doses-of-2-3-dimercaptosuccinic-acid-modified-fe2-o3-nanoparticles-on-intercalated-discs-in-engineered-cardiac-tissues
#13
Yongchao Mou, Shuanghong Lv, Fei Xiong, Yao Han, Yuwei Zhao, Junjie Li, Ning Gu, Jin Zhou
Although iron oxide nanoparticles (IRONs) were applied in clinical magnetic resonance imaging in vivo and magnetic tissue engineering in vitro widely, the underlying effects of IRONs on the development of cardiomyocytes especially the intercellular junctions, intercalated discs (IDs), remain an unknown issue. Given the critical role of three-dimensional (3D) engineered cardiac tissues (ECTs) in evaluation of nanoparticles toxicology, it remained necessary to understand the effects of IRONs on IDs assembly of cardiomyocytes in 3D environment...
November 27, 2016: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
https://www.readbyqxmd.com/read/27769725/structural-and-molecular-pathology-of%C3%A2-the%C3%A2-atrium-in-boxer-arrhythmogenic-right-ventricular-cardiomyopathy
#14
J Vila, R Pariaut, N S Moïse, E M Oxford, P R Fox, C A Reynolds, C Saelinger
OBJECTIVE: To investigate the expression and distribution of desmosomal and gap junction proteins of the intercalated disc in the atria of boxers with arrhythmogenic right ventricular cardiomyopathy (ARVC). ANIMALS: Nineteen control dogs and 13 boxers with histopathologically confirmed ARVC. METHODS: Right and left atrial samples were examined using immunofluorescence and Western blots. The intercalated disc proteins investigated included total and phosphorylated connexin43 (Cx43 and pCx43), connexin45, connexin40, plakoglobin, plakophilin-2, desmoplakin, and N-cadherin...
February 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/27729809/paraneoplastic-pemphigus-a-short-review
#15
Marta Wieczorek, Annette Czernik
Paraneoplastic pemphigus (PNP) is a fatal autoimmune blistering disease associated with an underlying malignancy. It is a newly recognized blistering disease, which was first recognized in 1990 by Dr Anhalt who described an atypical pemphigus with associated neoplasia. In 2001, Nguyen proposed the term paraneoplastic autoimmune multiorgan syndrome because of the recognition that the condition affects multiple organ systems. PNP presents most frequently between 45 and 70 years old, but it also occurs in children and adolescents...
2016: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/27698334/novel-truncating-desmoplakin-mutation-as-a-potential-cause-of-sudden-cardiac-death-in-a-family
#16
Bogna Foss-Nieradko, Maria Franaszczyk, Mateusz Śpiewak, Artur Oręziak, Rafał Płoski, Zofia T Bilińska
No abstract text is available yet for this article.
September 27, 2016: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/27551807/defects-in-stratum-corneum-desquamation-are-the-predominant-effect-of-impaired-abca12-function-in-a-novel-mouse-model-of-harlequin-ichthyosis
#17
Lei Zhang, Michael Ferreyros, Weiguo Feng, Melanie Hupe, Debra A Crumrine, Jiang Chen, Peter M Elias, Walter M Holleran, Lee Niswander, Daniel Hohl, Trevor Williams, Enrique C Torchia, Dennis R Roop
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this smooth skin or smsk allele die perinatally with shiny translucent skin, typical of animal models of Harlequin Ichthyosis. Characterization of smsk mutant skin showed that the delivery of glucosylceramides and CORNEODESMOSIN was defective, while ultrastructural analysis revealed abnormal lamellar bodies and the absence of lipid lamellae in smsk epidermis...
2016: PloS One
https://www.readbyqxmd.com/read/27505428/molecular-organization-of-the-desmosome-as-revealed-by-direct-stochastic-optical-reconstruction-microscopy
#18
Sara N Stahley, Emily I Bartle, Claire E Atkinson, Andrew P Kowalczyk, Alexa L Mattheyses
Desmosomes are macromolecular junctions responsible for providing strong cell-cell adhesion. Because of their size and molecular complexity, the precise ultrastructural organization of desmosomes is challenging to study. Here, we used direct stochastic optical reconstruction microscopy (dSTORM) to resolve individual plaque pairs for inner and outer dense plaque proteins. Analysis methods based on desmosomal mirror symmetry were developed to measure plaque-to-plaque distances and create an integrated map. We quantified the organization of desmoglein 3, plakoglobin and desmoplakin (N-terminal, rod and C-terminal domains) in primary human keratinocytes...
August 1, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27501241/establishment-of-3d-co-culture-models-from-different-stages-of-human-tongue-tumorigenesis-utility-in-understanding-neoplastic-progression
#19
Sharada Sawant, Harsh Dongre, Archana Kumari Singh, Shriya Joshi, Daniela Elena Costea, Snehal Mahadik, Chetan Ahire, Vidhi Makani, Prerana Dange, Shilpi Sharma, Devendra Chaukar, Milind Vaidya
To study multistep tumorigenesis process, there is a need of in-vitro 3D model simulating in-vivo tissue. Present study aimed to reconstitute in-vitro tissue models comprising various stages of neoplastic progression of tongue tumorigenesis and to evaluate the utility of these models to investigate the role of stromal fibroblasts in maintenance of desmosomal anchoring junctions using transmission electron microscopy. We reconstituted in-vitro models representing normal, dysplastic, and malignant tissues by seeding primary keratinocytes on either fibroblast embedded in collagen matrix or plain collagen matrix in growth factor-free medium...
2016: PloS One
https://www.readbyqxmd.com/read/27477171/keratinization-disorders-and-genetic-aspects-in-palmar-and-plantar-keratodermas
#20
Ewa Stypczyńska, Waldemar Placek, Barbara Zegarska, Rafał Czajkowski
Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C)...
June 2016: Acta Dermatovenerologica Croatica: ADC
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