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Desmosome mutation

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https://www.readbyqxmd.com/read/28156030/er-to-golgi-blockade-of-nascent-desmosomal-cadherins-in-serca2-inhibited-keratinocytes-implications-for-darier-s-disease
#1
Ning Li, Moonhee Park, Shengxiang Xiao, Zhi Liu, Luis A Diaz
Darier's disease (DD) is an autosomal dominantly inherited skin disorder caused by mutations in SERCA2, a Ca(2+) pump that transports Ca(2+) from the cytosol to the endoplasmic reticulum (ER). Loss of desmosomes and keratinocyte cohesion is a characteristic feature of DD. Desmosomal cadherins (DC) are Ca(2+) -dependent transmembrane adhesion proteins of desmosomes, which are mislocalized in the lesional but not perilesional skin of DD. We show here that inhibition of SERCA2 by two distinct inhibitors results in accumulation of DC precursors in keratinocytes, indicating ER-to-Golgi transport of nascent DC is blocked...
February 3, 2017: Traffic
https://www.readbyqxmd.com/read/28120905/genotype-phenotype-relationship-in-patients-with-arrhythmogenic-right-ventricular-cardiomyopathy-caused-by-desmosomal-gene-mutations-a-systematic-review-and-meta-analysis
#2
Zhenyan Xu, Wengen Zhu, Cen Wang, Lin Huang, Qiongqiong Zhou, Jinzhu Hu, Xiaoshu Cheng, Kui Hong
The relationship between clinical phenotypes and desmosomal gene mutations in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) is poorly characterized. Therefore, we performed a meta-analysis to explore the genotype-phenotype relationship in patients with ARVC. Any studies reporting this genotype-phenotype relationship were included. In total, 11 studies involving 1,113 patients were included. The presence of desmosomal gene mutations was associated with a younger onset age of ARVC (32.7 ± 15...
January 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102477/potential-new-mechanisms-of-pro-arrhythmia-in-arrhythmogenic-cardiomyopathy-focus-on-calcium-sensitive-pathways
#3
REVIEW
C J M van Opbergen, M Delmar, T A B van Veen
Arrhythmogenic cardiomyopathy, or its most well-known subform arrhythmogenic right ventricular cardiomyopathy (ARVC), is a cardiac disease mainly characterised by a gradual replacement of the myocardial mass by fibrous and fatty tissue, leading to dilatation of the ventricular wall, arrhythmias and progression towards heart failure. ARVC is commonly regarded as a disease of the intercalated disk in which mutations in desmosomal proteins are an important causative factor. Interestingly, the Dutch founder mutation PLN R14Del has been identified to play an additional, and major, role in ARVC patients within the Netherlands...
January 19, 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28069705/multilevel-analyses-of-scn5a-mutations-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-suggest-non-canonical-mechanisms-for-disease-pathogenesis
#4
Anneline S J M Te Riele, Esperanza Agullo-Pascual, Cynthia A James, Alejandra Leo-Macias, Marina Cerrone, Mingliang Zhang, Xianming Lin, Bin Lin, Nara L Sobreira, Nuria Amat-Alarcon, Roos F Marsman, Brittney Murray, Crystal Tichnell, Jeroen F van der Heijden, Dennis Dooijes, Toon A B van Veen, Harikrishna Tandri, Steven J Fowler, Richard N W Hauer, Gordon Tomaselli, Maarten P van den Berg, Matthew R G Taylor, Francesca Brun, Gianfranco Sinagra, Arthur A M Wilde, Luisa Mestroni, Connie R Bezzina, Hugh Calkins, J Peter van Tintelen, Lei Bu, Mario Delmar, Daniel P Judge
AIMS: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Nav1.5. We aimed to determine the prevalence and biophysical properties of mutations in SCN5A (the gene encoding Nav1.5) in ARVD/C. METHODS AND RESULTS: We performed whole-exome sequencing in six ARVD/C patients (33% male, 38.2 ± 12.1 years) without a desmosomal mutation...
January 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28069669/refining-the-molecular-organization-of-the-cardiac-intercalated-disc
#5
REVIEW
Sarah H Vermij, Hugues Abriel, Toon A B van Veen
This review presents an extensively integrated model of the cardiac intercalated disc (ID), a highly orchestrated structure that connects adjacent cardiomyocytes. Classically, three main structures are distinguished: gap junctions (GJs) metabolically and electrically connect cytoplasm of adjacent cardiomyocytes; adherens junctions (AJs) connect the actin cytoskeleton of adjacent cells; and desmosomes function as cell anchors and connect intermediate filaments. Furthermore, ion channels reside in the ID. Mutations in ID proteins have been associated with cardiac arrhythmias such as Brugada syndrome and arrhythmogenic cardiomyopathy...
January 8, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28069601/comprehensive-multi-modality-imaging-approach-in-arrhythmogenic-cardiomyopathy-an-expert-consensus-document-of-the-european-association-of-cardiovascular-imaging
#6
Kristina H Haugaa, Cristina Basso, Luigi P Badano, Chiara Bucciarelli-Ducci, Nuno Cardim, Oliver Gaemperli, Maurizio Galderisi, Gilbert Habib, Juhani Knuuti, Patrizio Lancellotti, William McKenna, Danilo Neglia, Bogdan A Popescu, Thor Edvardsen
Arrhythmogenic cardiomyopathy (AC) is a progressive disease with high risk of life-threatening ventricular arrhythmias. A genetic mutation is found in up to 50-60% of probands, mostly affecting desmosomal genes. Diagnosis of AC is made by a combination of data from different modalities including imaging, electrocardiogram, Holter monitoring, family history, genetic testing, and tissue properties. Being a progressive cardiomyopathy, repeated cardiac imaging is needed in AC patients. Repeated imaging is important also for risk assessment of ventricular arrhythmias...
January 9, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/27855808/right-ventricular-imaging-and-computer-simulation-for-electromechanical-substrate-characterization-in-arrhythmogenic-right-ventricular-cardiomyopathy
#7
Thomas P Mast, Arco J Teske, John Walmsley, Jeroen F van der Heijden, René van Es, Frits W Prinzen, Tammo Delhaas, Toon A van Veen, Peter Loh, Pieter A Doevendans, Maarten J Cramer, Joost Lumens
BACKGROUND: Previous studies suggested that electrical abnormalities precede overt structural disease in arrhythmogenic right ventricular cardiomyopathy (ARVC). Abnormal RV deformation has been reported in early ARVC without structural abnormalities. The pathophysiological mechanisms underlying these abnormalities remain unknown. OBJECTIVES: The authors used imaging and computer simulation to differentiate electrical from mechanical tissue substrates among ARVC clinical stages...
November 15, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27834139/microrna-130a-regulation-of-desmocollin-2-in-a-novel-model-of-arrhythmogenic-cardiomyopathy
#8
Stefan R Mazurek, Tyler Calway, Cynthia Harmon, Priyanka Farrell, Gene H Kim
BACKGROUND: MicroRNAs are small noncoding RNA molecules that play a critical role in regulating physiological and disease processes. Recent studies have now recognized microRNAs as an important player in cardiac arrhythmogenesis. Molecular insight into arrhythmogenic cardiomyopathy (AC) has primarily focused on mutations in desmosome proteins. To our knowledge, models of AC due to microRNA dysregulation have not been reported. Previously, we reported on miR-130a mediated down-regulation of Connexin43...
November 9, 2016: MicroRNA
https://www.readbyqxmd.com/read/27761164/the-genetic-background-of-arrhythmogenic-right-ventricular-cardiomyopathy
#9
REVIEW
Seiko Ohno
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by degeneration of the right ventricle and ventricular tachycardia originating from the right ventricle. Additionally, the disease is an inherited cardiomyopathy that mainly follows the autosomal dominant pattern. More than 10 genes have been reported as causative genes for ARVC, and more than half of ARVC patients carry mutations in desmosome related genes. The desmosome is one of the structures involved in cell adhesion and its disruption leads to various diseases, including a skin disease called pemphigus...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27715074/-arrhythmogenic-left-ventricular-cardiomyopathy
#10
Štěpán Havránek, Tomáš Paleček, Petr Kuchynka, Ivana Vítková
Arrhythmogenic left ventricular cardiomyopathy (ALVC) is a rare condition characterised by progressive fibrofatty replacement of the myocardium of the left ventricle in combination with arrhythmias of left ventricular origin. ALVC has been linked to autosomal dominant mutations of genes encoding desmosomal proteins, similarly to the classic arrhythmogenic right ventricular cardiomyopathy with which it also shares pathological and prognostic features. It seems that isolated left or right ventricular abnormalities represent two extremes of the spectrum of clinical manifestations of a single disease: arrhythmogenic cardiomyopathy...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27703000/palmitoylation-of-desmoglein-2-is-a-regulator-of-assembly-dynamics-and-protein-turnover
#11
Brett J Roberts, Robert A Svoboda, Andrew M Overmiller, Joshua D Lewis, Andrew P Kowalczyk, My G Mahoney, Keith R Johnson, James K Wahl
Desmosomes are prominent adhesive junctions present between many epithelial cells as well as cardiomyocytes. The mechanisms controlling desmosome assembly and remodeling in epithelial and cardiac tissue are poorly understood. We recently identified protein palmitoylation as a mechanism regulating desmosome dynamics. In this study, we have focused on the palmitoylation of the desmosomal cadherin desmoglein-2 (Dsg2) and characterized the role that palmitoylation of Dsg2 plays in its localization and stability in cultured cells...
November 25, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27617087/arrhythmogenic-cardiomyopathy-electrical-and-structural-phenotypes
#12
Deniz Akdis, Corinna Brunckhorst, Firat Duru, Ardan M Saguner
This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes...
August 2016: Arrhythmia & Electrophysiology Review
https://www.readbyqxmd.com/read/27572111/influence-of-genotype-on-structural-atrial-abnormalities-and-atrial-fibrillation-or-flutter-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#13
Mimount Bourfiss, Anneline S J M Te Riele, Thomas P Mast, Maarten J Cramer, Jeroen F VAN DER Heijden, Toon A B VAN Veen, Peter Loh, Dennis Dooijes, Richard N W Hauer, Birgitta K Velthuis
INTRODUCTION: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is associated with desmosomal mutations. Although desmosomal disruption affects both ventricles and atria, little is known about atrial involvement in ARVD/C. OBJECTIVE: To describe the extent and clinical significance of structural atrial involvement and atrial arrhythmias (AA) in ARVD/C stratified by genotype. METHODS: We included 71 patients who met ARVD/C Task Force Criteria and underwent cardiac magnetic resonance (CMR) imaging and molecular genetic analysis...
December 2016: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/27476651/loss-of-function-mutations-in-serpinb8-linked-to-exfoliative-ichthyosis-with-impaired-mechanical-stability-of-intercellular-adhesions
#14
Manuela Pigors, Ofer Sarig, Lisa Heinz, Vincent Plagnol, Judith Fischer, Janan Mohamad, Natalia Malchin, Shefali Rajpopat, Monia Kharfi, Giles G Lestringant, Eli Sprecher, David P Kelsell, Diana C Blaydon
SERPINS comprise a large and functionally diverse family of serine protease inhibitors. Here, we report three unrelated families with loss-of-function mutations in SERPINB8 in association with an autosomal-recessive form of exfoliative ichthyosis. Whole-exome sequencing of affected individuals from a consanguineous Tunisian family and a large Israeli family revealed a homozygous frameshift mutation, c.947delA (p.Lys316Serfs(∗)90), and a nonsense mutation, c.850C>T (p.Arg284(∗)), respectively. These two mutations are located in the last exon of SERPINB8 and, hence, would not be expected to lead to nonsense-mediated decay of the mRNA; nonetheless, both mutations are predicted to lead to loss of the reactive site loop of SERPINB8, which is crucial for forming the SERPINB8-protease complex...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27467440/association-between-germline-mutation-in-vsig10l-and-familial-barrett-neoplasia
#15
Ryan E Fecteau, Jianping Kong, Adam Kresak, Wendy Brock, Yeunjoo Song, Hisashi Fujioka, Robert Elston, Joseph E Willis, John P Lynch, Sanford D Markowitz, Kishore Guda, Amitabh Chak
Importance: Esophageal adenocarcinoma and its precursor lesion Barrett esophagus have seen a dramatic increase in incidence over the past 4 decades yet marked genetic heterogeneity of this disease has precluded advances in understanding its pathogenesis and improving treatment. Objective: To identify novel disease susceptibility variants in a familial syndrome of esophageal adenocarcinoma and Barrett esophagus, termed familial Barrett esophagus, by using high-throughput sequencing in affected individuals from a large, multigenerational family...
October 1, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/27412010/molecular-disturbance-underlies-to-arrhythmogenic-cardiomyopathy-induced-by-transgene-content-age-and-exercise-in-a-truncated-pkp2-mouse-model
#16
Javier Moncayo-Arlandi, Eduard Guasch, Maria Sanz, Marta Casado, Nahuel Aquiles García, Lluis Mont, Marta Sitges, Ralph Knöll, Byambajav Buyandelger, Campuzano Oscar, Antonio Diez-Juan, Ramon Brugada
Arrhythmogenic cardiomyopathy (ACM) is a disorder characterized by a progressive ventricular myocardial replacement by fat and fibrosis which lead to ventricular arrhythmias and sudden cardiac death. Mutations in the desmosomal gene Plakophilin-2 (PKP2) accounts for >40% of all known mutations, generally causing a truncated protein. In a PKP2 truncated mouse model, we hypothesize that content of transgene, endurance training and aging will be determinant in disease progression. In addition, we investigated the molecular defects associated with the phenotype in this model...
July 12, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27405450/lmna-mediated-arrhythmogenic-right-ventricular-cardiomyopathy-and-charcot-marie-tooth-type-2b1-a-patient-discovered-unifying-diagnosis
#17
Jackson J Liang, Martha Grogan, Michael J Ackerman
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an uncommon cardiomyopathy most classically associated with mutations in genes encoding desmosomal proteins. Recent literature has identified mutations in several non-desmosomal proteins including lamins that may result in the ARVC phenotype. We describe a patient who discovered her own pathogenic LMNA mutation that offered a unifying diagnosis explaining her ARVC and Charcot-Marie-Tooth phenotypes as well as musculoskeletal abnormalities. Suspicion for LMNA-mediated cardiomyopathy should arise in patients with extracardiac manifestations of laminopathies and testing for specific gene mutations may be helpful in establishing an unifying diagnosis...
July 2016: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/27346727/loss-of-flotillin-expression-results-in-weakened-desmosomal-adhesion-and-pemphigus-vulgaris-like-localisation-of-desmoglein-3-in-human-keratinocytes
#18
Frauke Völlner, Jawahir Ali, Nina Kurrle, Yvonne Exner, Rüdiger Eming, Michael Hertl, Antje Banning, Ritva Tikkanen
Desmosomes are adhesion plaques that mediate cell-cell adhesion in many tissues, including the epidermis, and generate mechanical resistance to tissues. The extracellular domains of desmosomal cadherin proteins, desmogleins and desmocollins, are required for the interaction with cadherins of the neighbouring cells, whereas their cytoplasmic tails associate with cytoplasmic proteins which mediate connection to intermediate filaments. Disruption of desmosomal adhesion by mutations, autoantibodies or bacterial toxins results in severe human disorders of e...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27338494/electrocardiographic-differentiation-of-idiopathic-right-ventricular-outflow-tract-ectopy-from-early-arrhythmogenic-right-ventricular-cardiomyopathy
#19
Jan Novak, Alessandro Zorzi, Silvia Castelletti, Antonis Pantasis, Ilaria Rigato, Domenico Corrado, William Mckenna, Pier D Lambiase
AIMS: The differentiation between idiopathic right ventricular outflow tract (RVOT) arrhythmias and early arrhythmogenic right ventricular cardiomyopathy (ARVC) can be challenging. We aimed to assess whether QRS morphological features and coupling interval of ventricular ectopic beats (VEBs) can improve differentiation between the two conditions. METHODS AND RESULTS: Twenty desmosomal-gene mutation carriers (13 females, mean age 43 years) with no or mild ARVC phenotypic expression and 33 age- and sex-matched subjects with idiopathic RVOT arrhythmias were studied...
June 23, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/27222304/fam83h-and-casein-kinase-i-regulate-the-organization-of-the-keratin-cytoskeleton-and-formation-of-desmosomes
#20
Takahisa Kuga, Mitsuho Sasaki, Toshinari Mikami, Yasuo Miake, Jun Adachi, Maiko Shimizu, Youhei Saito, Minako Koura, Yasunori Takeda, Junichiro Matsuda, Takeshi Tomonaga, Yuji Nakayama
FAM83H is essential for the formation of dental enamel because a mutation in the FAM83H gene causes amelogenesis imperfecta (AI). We previously reported that the overexpression of FAM83H often occurs and disorganizes the keratin cytoskeleton in colorectal cancer cells. We herein show that FAM83H regulates the organization of the keratin cytoskeleton and maintains the formation of desmosomes in ameloblastoma cells. FAM83H is expressed and localized on keratin filaments in human ameloblastoma cell lines and in mouse ameloblasts and epidermal germinative cells in vivo...
2016: Scientific Reports
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