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https://www.readbyqxmd.com/read/29317431/suppression-of-activated-foxo-transcription-factors-in-the-heart-prolongs-survival-in-a-mouse-model-of-laminopathies
#1
Gaelle Auguste, Priyatansh Gurha, Raffaella Lombardi, Cristian Coarfa, James T Willerson, Ali J Marian
Rationale: Mutations in the LMNA gene, encoding nuclear inner membrane protein Lamin A/C, cause distinct phenotypes, collectively referred to as laminopathies. Heart failure, conduction defects, and arrhythmias are the common causes of death in laminopathies. Objective: To identify and therapeutically target the responsible mechanism(s) for cardiac phenotype in laminopathies. Methods and Results: Whole heart RNA sequencing was performed prior to the onset of cardiac dysfunction in the Lmna-/- and matched control mice...
January 9, 2018: Circulation Research
https://www.readbyqxmd.com/read/29311549/lamin-a-c-augments-th1-differentiation-and-response-against-vaccinia-virus-and-leishmania-major
#2
Raquel Toribio-Fernández, Virginia Zorita, Vera Rocha-Perugini, Salvador Iborra, Gloria Martínez Del Hoyo, Raphael Chevre, Beatriz Dorado, David Sancho, Francisco Sanchez-Madrid, Vicente Andrés, Jose-Maria Gonzalez-Granado
Differentiation of naive CD4+ T-cells into functionally distinct T helper (Th) subsets is critical to immunity against pathogen infection. Little is known about the role of signals emanating from the nuclear envelope for T-cell differentiation. The nuclear envelope protein lamin A/C is induced in naive CD4+ T-cells upon antigen recognition and acts as a link between the nucleus and the plasma membrane during T-cell activation. Here we demonstrate that the absence of lamin A/C in naive T-cell reduces Th1 differentiation without affecting Th2 differentiation in vitro and in vivo...
January 8, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29305677/coupling-interval-variability-of-premature-ventricular-contractions-in-patients-with-different-underlying-pathology-an-insight-into-the-arrhythmia-mechanism
#3
Lennart J de Vries, Mihran Martirosyan, Ron T van Domburg, Sip A Wijchers, Tamas Géczy, Tamas Szili-Torok
PURPOSE: Coupling interval (CI) variability of premature ventricular contractions (PVCs) is influenced by the underlying arrhythmia mechanism. The aim of this study was to compare CI variability of PVCs in different myocardial disease entities, in order to gain insight into their arrhythmia mechanism. METHODS: Sixty-four patients with four underlying pathologies were included: idiopathic (n = 16), non-ischemic dilated cardiomyopathy (NIDCM) (n = 16), familial cardiomyopathy (PLN/LMNA) (n = 16), and post-MI (n = 16)-associated PVCs...
January 5, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29237675/gene-based-risk-stratification-for-cardiac-disorders-in-lmna-mutation-carriers
#4
Suguru Nishiuchi, Takeru Makiyama, Takeshi Aiba, Kenzaburo Nakajima, Sayako Hirose, Hirohiko Kohjitani, Yuta Yamamoto, Takeshi Harita, Mamoru Hayano, Yimin Wuriyanghai, Jiarong Chen, Kenichi Sasaki, Nobue Yagihara, Taisuke Ishikawa, Kenji Onoue, Nobuyuki Murakoshi, Ichiro Watanabe, Kimie Ohkubo, Hiroshi Watanabe, Seiko Ohno, Takahiro Doi, Satoshi Shizuta, Tohru Minamino, Yoshihiko Saito, Yasushi Oginosawa, Akihiko Nogami, Kazutaka Aonuma, Kengo Kusano, Naomasa Makita, Wataru Shimizu, Minoru Horie, Takeshi Kimura
BACKGROUND: Mutations in LMNA (lamin A/C), which encodes lamin A and C, typically cause age-dependent cardiac phenotypes, including dilated cardiomyopathy, cardiac conduction disturbance, atrial fibrillation, and malignant ventricular arrhythmias. Although the type of LMNA mutations have been reported to be associated with susceptibility to malignant ventricular arrhythmias, the gene-based risk stratification for cardiac complications remains unexplored. METHODS AND RESULTS: The multicenter cohort included 77 LMNA mutation carriers from 45 families; cardiac disorders were retrospectively analyzed...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29211919/myofibrillar-myopathy-due-to-dominant-lmna-mutations-a-report-of-2-cases
#5
Priya S Dhawan, Teerin Liewluck, Joseph Knapik, Margherita Milone
No abstract text is available yet for this article.
December 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29208544/mandibuloacral-dysplasia-a-premature-ageing-disease-with-aspects-of-physiological-ageing
#6
REVIEW
Vittoria Cenni, Maria Rosaria D'Apice, Paolo Garagnani, Marta Columbaro, Giuseppe Novelli, Claudio Franceschi, Giovanna Lattanzi
Mandibuloacral dysplasia (MAD) is a rare genetic condition characterized by bone abnormalities including localized osteolysis and generalized osteoporosis, skin pigmentation, lipodystrophic signs and mildly accelerated ageing. The molecular defects associated with MAD are mutations in LMNA or ZMPSTE24 (FACE1) gene, causing type A or type B MAD, respectively. Downstream of LMNA or ZMPSTE24 mutations, the lamin A precursor, prelamin A, is accumulated in cells and affects chromatin dynamics and stress response...
December 2, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/29197877/functional-characterization-of-a-novel-truncating-mutation-in-lamin-a-c-gene-in-a-family-with-a-severe-cardiomyopathy-with-conduction-defects
#7
Andrea Gerbino, Irene Bottillo, Serena Milano, Martina Lipari, Roberta De Zio, Silvia Morlino, Maria Grazia Mola, Giuseppe Procino, Federica Re, Elisabetta Zachara, Paola Grammatico, Maria Svelto, Monica Carmosino
BACKGROUND/AIMS: Truncating LMNA gene mutations occur in many inherited cardiomyopathy cases, but the molecular mechanisms involved in the disease they cause have not yet been systematically investigated. Here, we studied a novel frameshift LMNA variant (p.D243Gfs*4) identified in three members of an Italian family co-segregating with a severe form of cardiomyopathy with conduction defects. METHODS: HEK293 cells and HL-1 cardiomyocytes were transiently transfected with either Lamin A or D243Gfs*4 tagged with GFP (or mCherry)...
December 4, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29196611/cell-signaling-abnormalities-in-cardiomyopathy-caused-by-lamin-a-c-gene-mutations
#8
REVIEW
Howard J Worman
Mutations in the lamin A/C gene (LMNA) encoding intermediate filament proteins associated with the inner nuclear membrane cause diseases known as laminopathies. Most LMNA mutations cause dilated cardiomyopathy with variable skeletal muscular dystrophy. Cell signaling abnormalities have been discovered in hearts of mouse models of cardiomyopathy caused by LMNA mutations that contribute to pathogenesis. These include abnormally increased signaling by extracellular signal-regulated kinase 1 and kinase 2 and other mitogen-activated protein kinases, protein kinase B/mammalian target of rapamycin complex 1 and transforming growth factor-β...
December 1, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29191657/extracellular-vesicle-encapsulated-microrna-761-enhances-pazopanib-resistance-in-synovial-sarcoma
#9
Kumiko Shiozawa, Ji Shuting, Yusuke Yoshioka, Takahiro Ochiya, Tadashi Kondo
The development of drug resistance in tumor cells leads to relapse and distant metastasis. Secreted microRNAs (miRNAs) enclosed in extracellular vesicles (EVs) can act as intercellular messengers. The objective of our study was to elucidate the role of secreted miRNAs to better understand the regulatory network underlying pazopanib-resistance in synovial sarcoma cells. We performed a comprehensive analysis of secreted miRNA abundance in pazopanib treated/untreated synovial sarcoma cells from four different cell lines (SYO-1, HS-SYII, 1273/99, and YaFuSS) using microarray technology, and discovered miR-761 in EVs as a potential biomarker of pazopanib-resistance in synovial sarcoma...
November 27, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29175975/lamin-and-the-heart
#10
REVIEW
Gabriella Captur, Eloisa Arbustini, Gisèle Bonne, Petros Syrris, Kevin Mills, Karim Wahbi, Saidi A Mohiddin, William J McKenna, Stephen Pettit, Carolyn Y Ho, Antoine Muchir, Paul Gissen, Perry M Elliott, James C Moon
Lamins A and C are intermediate filament nuclear envelope proteins encoded by the LMNA gene. Mutations in LMNA cause autosomal dominant severe heart disease, accounting for 10% of dilated cardiomyopathy (DCM). Characterised by progressive conduction system disease, arrhythmia and systolic impairment, lamin A/C heart disease is more malignant than other common DCMs due to high event rates even when the left ventricular impairment is mild. It has several phenotypic mimics, but overall it is likely to be an under-recognised cause of DCM...
November 25, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29173404/sudden-cardiac-death-in-genetic-cardiomyopathies
#11
REVIEW
Gourg Atteya, Rachel Lampert
Sudden cardiac death (SCD) caused by ventricular arrhythmias is common in patients with genetic cardiomyopathies (CMs) including dilated CM, hypertrophic CM, and arrhythmogenic right ventricular CM (ARVC). Phenotypic features can identify individuals at high enough risk to warrant placement of an implantable cardioverter-defibrillator, although risk stratification schemes remain imperfect. Genetic testing is valuable for family cascade screening but with few exceptions (eg, LMNA mutations) do not identify higher risk for SCD...
December 2017: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/29157013/prediction-of-metabolites-of-epoxidation-reaction-in-metatox
#12
A V Rudik, A V Dmitriev, V M Bezhentsev, A A Lagunin, D A Filimonov, V V Poroikov
Biotransformation is a process of the chemical modifications which may lead to the reactive metabolites, in particular the epoxides. Epoxide reactive metabolites may cause the toxic effects. The prediction of such metabolites is important for drug development and ecotoxicology studies. Epoxides are formed by some oxidation reactions, usually catalysed by cytochromes P450, and represent a large class of three-membered cyclic ethers. Identification of molecules, which may be epoxidized, and indication of the specific location of epoxide functional group (which is called SOE - site of epoxidation) are important for prediction of epoxide metabolites...
November 20, 2017: SAR and QSAR in Environmental Research
https://www.readbyqxmd.com/read/29149195/age-of-heart-disease-presentation-and-dysmorphic-nuclei-in-patients-with-lmna-mutations
#13
Jason Q Core, Mehrsa Mehrabi, Zachery R Robinson, Alexander R Ochs, Linda A McCarthy, Michael V Zaragoza, Anna Grosberg
Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes...
2017: PloS One
https://www.readbyqxmd.com/read/29127216/emerging-candidate-treatment-strategies-for-hutchinson-gilford-progeria-syndrome
#14
REVIEW
Charlotte Strandgren, Gwladys Revêchon, Agustín Sola Carvajal, Maria Eriksson
Hutchinson-Gilford progeria syndrome (HGPS, progeria) is an extremely rare premature aging disorder affecting children, with a disease incidence of ∼1 in 18 million individuals. HGPS is usually caused by a de novo point mutation in exon 11 of the LMNA gene (c.1824C>T, p.G608G), resulting in the increased usage of a cryptic splice site and production of a truncated unprocessed lamin A protein named progerin. Since the genetic cause for HGPS was published in 2003, numerous potential treatment options have rapidly emerged...
November 10, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29112121/the-potential-of-ipscs-for-the-treatment-of-premature-aging-disorders
#15
REVIEW
Claudia Compagnucci, Enrico Bertini
Premature aging disorders including Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome, are a group of rare monogenic diseases leading to reduced lifespan of the patients. Importantly, these disorders mimic several features of physiological aging. Despite the interest on the study of these diseases, the underlying biological mechanisms remain unknown and no treatment is available. Recent studies on HGPS (due to mutations of the LMNA gene encoding for the nucleoskeletal proteins lamin A/C) have reported disruptions in cellular and molecular mechanisms modulating genomic stability and stem cell populations, thus giving the nuclear lamina a relevant function in nuclear organization, epigenetic regulation and in the maintenance of the stem cell pool...
November 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29108996/fpld2-lmna-mutation-r482w-dysregulates-ipsc-derived-adipocyte-function-and-lipid-metabolism
#16
Max Friesen, Chad A Cowan
Lipodystrophies are disorders that directly affect lipid metabolism and storage. Familial partial lipodystrophy type 2 (FPLD2) is caused by an autosomal dominant mutation in the LMNA gene. FPLD2 is characterized by abnormal adipose tissue distribution. This leads to metabolic deficiencies, such as insulin-resistant diabetes mellitus and hypertriglyceridemia. Here we have derived iPSC lines from two individuals diagnosed with FPLD2, and differentiated these cells into adipocytes. Adipogenesis and certain adipocyte functions are impaired in FPLD2-adipocytes...
November 3, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29104234/dupuytren-s-and-ledderhose-diseases-in-a-family-with-lmna-related-cardiomyopathy-and-a-novel-variant-in-the-aste1-gene
#17
Michael V Zaragoza, Cecilia H H Nguyen, Halida P Widyastuti, Linda A McCarthy, Anna Grosberg
Dupuytren's disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot. While clinical aspects are well-described, genetic mechanisms are unknown. We report a family with cardiac disease due to a heterozygous LMNA mutation (c.736C>T, p.Gln246Stop) with palmar/plantar fibromatosis and investigate the hypothesis that a second rare DNA variant increases the risk for fibrotic disease in LMNA mutation carriers...
November 1, 2017: Cells
https://www.readbyqxmd.com/read/29095976/lamin-a-c-cardiomyopathy-young-onset-high-penetrance-and-frequent-need-for-heart-transplantation
#18
Nina Eide Hasselberg, Trine Fink Haland, Jørg Saberniak, Pål Haugar Brekke, Knut Erik Berge, Trond Paul Leren, Thor Edvardsen, Kristina Hermann Haugaa
Aims: Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway. Furthermore, we explored the risk factors and the outcomes in LMNA patients. Methods and results: During 2003-15, genetic testing was performed in patients referred for familial DCM. LMNA genotype-positive subjects were examined by electrocardiography, Holter monitoring, cardiac magnetic resonance imaging, and echocardiography...
October 31, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29057633/early-onset-lmna-associated-muscular-dystrophy-with-later-involvement-of-contracture
#19
Younggun Lee, Jung Hwan Lee, Hyung Jun Park, Young Chul Choi
BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. METHODS: We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy...
October 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29047356/non-syndromic-cardiac-progeria-in-a-patient-with-the-rare-pathogenic-p-asp300asn-variant-in-the-lmna-gene
#20
Ali J Marian
BACKGROUND: Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of the coronary arteries. Much less commonly, LMNA mutations cause progeroid syndromes, whereby an early-onset coronary artery disease (CAD) is the hallmark of the disease. We report a hitherto unreported compound cardiac phenotype, dubbed as "non-syndromic cardiac progeria", in a young patient who carried a rare pathogenic variant in the LMNA gene and developed progressive degeneration of various cardiac structures, as seen in the elderly...
October 18, 2017: BMC Medical Genetics
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