Article
Oncology
Xiaolin Zhang, Xiuli Shao, Ruijia Zhang, Rongli Zhu, Rui Feng
Summary: We identified differential binding genes on euchromatin in DCM induced by LMNA mutation through ChIP-seq technology and integrated analysis with transcriptome data. Five and 60 candidate genes were identified for downstream analysis, leading to the discovery of 4 key genes (CREBBP, PPP2R2B, BMP4, and BMP7) that may regulate DCM through WNT/beta-catenin or TGF beta-BMP pathways. This study provides insights into the molecular pathogenesis mechanisms of DCM caused by LMNA mutations and highlights potential biomarkers and therapeutic targets.
CLINICAL EPIGENETICS
(2021)
Article
Biochemistry & Molecular Biology
Yuval Shemer, Lucy N. Mekies, Ronen Ben Jehuda, Polina Baskin, Rita Shulman, Binyamin Eisen, Danielle Regev, Eloisa Arbustini, Brenda Gerull, Mihaela Gherghiceanu, Eyal Gottlieb, Michael Arad, Ofer Binah
Summary: LMNA-related dilated cardiomyopathy is an inherited heart disease characterized by left ventricular enlargement and impaired systolic function caused by mutations in the LMNA gene, leading to abnormalities in cardiac physiology and gene expression. Studying induced pluripotent stem cell-derived cardiomyocytes from patients can provide insights into potential therapeutic strategies for the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Luzi Yang, Jinhuan Sun, Zhan Chen, Lei Liu, Yueshen Sun, Junsen Lin, Xiaomin Hu, Mingming Zhao, Yuanwu Ma, Dan Lu, Yifei Li, Yuxuan Guo, Erdan Dong
Summary: The LMNA c.1621C > T/ p.R541C variant contributes to dilated cardiomyopathy (DCM) by enhancing heterochromatic gene suppression and disrupting mitochondrial functions.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Antonia Gonzalez-Garrido, Sandra Rosas-Madrigal, Arturo Rojo-Dominguez, Jaime Arellanes-Robledo, Enrique Lopez-Mora, Alessandra Carnevale, Leticia Arregui, Rigoberto Rosendo-Gutierrez, Sandra Romero-Hidalgo, Maria Teresa Villarreal-Molina
Summary: The clinical phenotype of LMNA-associated dilated cardiomyopathy (DCM) varies even among individuals who share the same mutation. LAP2 alpha/Arg690Cys polymorphism may be one of the many factors contributing to phenotype variation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Lei Chang, Rong Huang, Jianzhou Chen, Guannan Li, Guangfei Shi, Biao Xu, Lian Wang
Summary: LMNA gene mutations can result in a variety of laminopathies. LMNA-DCM, characterized by heart failure and arrhythmia, is a common laminopathy. In this study, a novel LMNA variant was identified in a dilated cardiomyopathy family using whole-exome sequencing. Mutant protein structure prediction and analysis of confirmed laminopathy mutations revealed a correlation between DCM phenotype and alpha-helix region mutation. Further analysis indicated that variations in the alpha-helix-coding region of LMNA caused abnormal transcriptomic features in cell migration, collagen-containing extracellular matrix, and PI3K-Akt signaling pathway. A regulatory network was constructed, identifying 7 key genes as potential biomarkers or therapeutic targets in LMNA-DCM patients.
BMC MEDICAL GENOMICS
(2023)
Review
Cell Biology
Yinuo Wang, Gergana Dobreva
Summary: Mutations in the LMNA gene cause laminopathies, a group of diverse diseases. LMNA-related cardiomyopathy is a common inherited heart disease with a poor prognosis. Research using mouse models, stem cells, and patient samples has characterized the phenotypic diversity caused by LMNA variants and contributed to understanding the molecular mechanisms underlying heart disease. This review focuses on the different cardiomyopathies caused by LMNA mutations, the role of LMNA in chromatin organization and gene regulation, and how these processes are disrupted in heart disease.
Article
Cardiac & Cardiovascular Systems
Kiran Sidhu, Anna Isotta Castrini, Victoria Parikh, Nosheen Reza, Anjali Owens, Maxime Tremblay-Gravel, Matthew T. Wheeler, Luisa Mestroni, Matthew Taylor, Sharon Graw, Marta Gigli, Marco Merlo, Alessia Paldino, Gianfranco Sinagra, Daniel P. Judge, Hannia Ramos, Olurotimi Mesubi, Emily Brown, Samual Turnbull, Saurabh Kumar, Darius Roy, Usha B. Tedrow, Long Ngo, Kristina Haugaa, Neal K. Lakdawala
Summary: Cardiac resynchronization therapy (CRT) plays an important role in improving heart failure in LMNA cardiomyopathy patients, especially in those with strong guideline indications. The study found that patients who responded to CRT had improved systolic function and experienced survival benefits.
EUROPEAN JOURNAL OF HEART FAILURE
(2022)
Article
Cardiac & Cardiovascular Systems
Kenji Onoue, Hiroko Wakimoto, Jiangming Jiang, Michael Parfenov, Steven DePalma, David Conner, Joshua Gorham, David McKean, Jonathan G. Seidman, Christine E. Seidman, Yoshihiko Saito
Summary: The mutation of LMNA gene contributes to the development of DCM by impairing cell proliferation capacity and cell cycle defects, which is distinct from the mechanisms of other causative genes of DCM.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Yongping Lin, Hailei Liu, Chang Cui, Zhiqiao Lin, Yike Zhang, Yue Zhu, Weizhu Ju, Minglong Chen
Summary: A novel frameshift mutation (p.P485Tfs*67) in the LMNA gene was identified in a patient with early-onset atrial disease. A transgenic zebrafish model confirmed the pathogenicity of this mutation, showing abnormal ECG and impaired myocardial structure in adult zebrafish, suggesting the atrial pathogenicity of the LMNA-P485Tfs mutation and providing insights into the function of the Ig-like domain of lamin A/C.
HUMAN MOLECULAR GENETICS
(2021)
Article
Cell & Tissue Engineering
Yike Zhang, Yue Zhu, Yongping Lin, Hailei Liu, Hongwu Chen, Weizhu Ju, Chang Cui, Minglong Chen
Summary: In this study, PBMCs from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation were reprogrammed to iPSCs using a non-integrating system. A missense mutation in the LMNA gene was identified and verified, with pluripotency, differentiation potential, and karyotype of the cell line also being tested. This model serves as a valuable tool for studying laminopathy phenotype, mechanism, and therapy.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Yuzuno Shimoda, Nobuyuki Murakoshi, Haruka Mori, DongZhu Xu, Kazuko Tajiri, Yasuko Hemmi, Iori Sato, Michiya Noguchi, Yukio Nakamura, Yohei Hayashi, Masaki Ieda
Summary: A human induced pluripotent stem cell line derived from a patient with DCM carrying a LMNA mutation has been established, providing a valuable resource for studying disease mechanisms and developing treatments for LMNA-related DCM.
STEM CELL RESEARCH
(2022)
Article
Medicine, Research & Experimental
Mingmin Li, Shuang Xia, Lan Xu, Hong Tan, Junqing Yang, Zejia Wu, Xuyu He, Liwen Li
Summary: Using targeted next-generation sequencing, potential genetic causes of idiopathic DCM were identified. Sarcomere mutations remained the most common genetic cause of inherited DCM in this cohort of sporadic Chinese DCM.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Medicine, General & Internal
Joanna Petryka-Mazurkiewicz, Karolina Kryczka, Lukasz Mazurkiewicz, Barbara Milosz-Wieczorek, Mateusz Spiewak, Magdalena Marczak, Jan Henzel, Jacek Grzybowski, Marcin Demkow, Zofia Dzielinska
Summary: Using cardiovascular magnetic resonance (CMR) imaging, subtle differences were found between peripartum cardiomyopathy (PPCM) and dilated cardiomyopathy (DCM), with the main variations being observed in the performance of the right atrium (RA) and left ventricular (LV) global longitudinal strain.
Article
Cardiac & Cardiovascular Systems
Ruping Chen, Simone Buchmann, Amos Kroth, Anahi-Paula Arias-Loza, Michael Kohlhaas, Nicole Wagner, Gianna Gruener, Alexander Nickel, Alexandra Cirnu, Tatjana Williams, Christoph Maack, Sueleyman Erguen, Stefan Frantz, Brenda Gerull
Summary: This study discovered a new homozygous mutation (p.L13R) in the inner nuclear membrane protein LEMD2, which causes a form of arrhythmic cardiomyopathy characterized by endocardial fibrosis, left ventricular dilatation, and systolic dysfunction. The mutation impairs the repair capacity of nuclear envelope rupture, leading to increased DNA damage and premature senescence. This research identifies LEMD2 as a new player in laminopathies.
CIRCULATION RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Anna Orlova, Daria Guseva, Oxana Ryzhkova
Summary: This study described a new case of severe dilated cardiomyopathy caused by a frameshift mutation in the CASZ1 gene. The clinical presentation was similar to previous studies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Michalina Krych, Joanna Poninska, Zofia T. Bilinska, Rafal Ploski, Elzbieta K. Biernacka
ANNALS OF NONINVASIVE ELECTROCARDIOLOGY
(2019)
Article
Cardiac & Cardiovascular Systems
Malgorzata Stepien-Wojno, Maria Franaszczyk, Robert Bodalski, Mateusz Spiewak, Rafal S. Baranowski, Jacek Grzybowski, Rafal Ploski, Zofia T. Bilinska
ANNALS OF NONINVASIVE ELECTROCARDIOLOGY
(2020)
Article
Medicine, General & Internal
Maria Franaszczyk, Grazyna Truszkowska, Przemyslaw Chmielewski, Malgorzata Rydzanicz, Joanna Kosinska, Tomasz Rywik, Anna Biernacka, Mateusz Spiewak, Grazyna Kostrzewa, Malgorzata Stepien-Wojno, Piotr Stawinski, Maria Bilinska, Pawel Krajewski, Tomasz Zielinski, Anna Lutynska, Zofia T. Bilinska, Rafal Ploski
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Medicine, General & Internal
Przemyslaw Chmielewski, Ewa Michalak, Ilona Kowalik, Maria Franaszczyk, Malgorzata Sobieszczanska-Malek, Grazyna Truszkowska, Malgorzata Stepien-Wojno, Elzbieta Katarzyna Biernacka, Bogna Foss-Nieradko, Michal Lewandowski, Artur Oreziak, Maria Bilinska, Mariusz Kusmierczyk, Frederique Tesson, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T. Bilinska
JOURNAL OF CLINICAL MEDICINE
(2020)
Article
Cardiac & Cardiovascular Systems
Angela Lopez-Sainz, Fernando Dominguez, Luis Rocha Lopes, Juan Pablo Ochoa, Roberto Barriales-Villa, Vicente Climent, Marijke Linschoten, Coloma Tiron, Chiara Chiriatti, Nuno Marques, Torsten B. Rasmussen, Maria Angeles Espinosa, Roy Beinart, Giovanni Quarta, Sergi Cesar, Ella Field, Jose M. Garcia-Pinilla, Zofia Bilinska, Alison R. Muir, Angharad M. Roberts, Enrique Santas, Esther Zorio, Maria Luisa Pena-Pena, Marina Navarro, Adrian Fernandez, Julian Palomino-Doza, Olga Azevedo, Massimiliano Lorenzini, Maria I. Garcia-Alvarez, Dina Bento, Morten K. Jensen, Irene Mendez, Laura Pezzoli, Georgia Sarquella-Brugada, Oscar Campuzano, Esther Gonzalez-Lopez, Jens Mogensen, Juan Pablo Kaski, Michael Arad, Ramon Brugada, Folkert W. Asselbergs, Lorenzo Monserrat, Iacopo Olivotto, Perry M. Elliott, Pablo Garcia-Pavia
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2020)
Article
Cardiac & Cardiovascular Systems
Tiina Helio, Perry Elliott, Juha W. Koskenvuo, Juan R. Gimeno, Luigi Tavazzi, Michal Tendera, Juan Pablo Kaski, Nicolas Mansencal, Zofia Bilinska, Gerry Carr-White, Thibaud Damy, Andrea Frustaci, Ingrid Kindermann, Tomas Ripoll-Vera, Jelena Celutkiene, Anna Axelsson, Massimiliano Lorenzini, Aly Saad, Aldo P. Maggioni, Cecile Laroche, Alida L. P. Caforio, Philippe Charron
Article
Medicine, General & Internal
Malgorzata Stepien-Wojno, Joanna Poninska, Elzbieta K. Biernacka, Bogna Foss-Nieradko, Tomasz Chwyczko, Pawel Syska, Rafal Ploski, Zofia T. Bilinska
Article
Radiology, Nuclear Medicine & Medical Imaging
Mateusz Spiewak, Mariusz Klopotowski, Natalia Ojrzynska, Joanna Petryka-Mazurkiewicz, Barbara Milosz-Wieczorek, Lukasz Mazurkiewicz, Jacek Grzybowski, Zofia Bilinska, Adam Witkowski, Magdalena Marczak
Summary: Cardiac MRI can diagnose previously unknown conditions and refute suspected cardiomyopathy in a small group of patients with ultrasound-based HCM, with a diagnostic yield of 44.7% in patients suspected of having HCM. Notably, MRI aided in identifying cardiomyopathy in 47.9% of patients with a history of uncontrolled hypertension suspected of having HCM.
EUROPEAN RADIOLOGY
(2021)
Article
Medicine, General & Internal
Przemyslaw Chmielewski, Grazyna T. Truszkowska, Piotr Kukla, Joanna Zakrzewska-Koperska, Mateusz spiewak, Malgorzata Stepien-Wojno, Maria Bilinska, Anna Lutynska, Rafal Ploski, Zofia T. Bilinska
Article
Multidisciplinary Sciences
Mateusz Spiewak, Mariusz Klopotowski, Ewa Kowalik, Agata Kubik, Natalia Ojrzynska-Witek, Joanna Petryka-Mazurkiewicz, Ewa Michalak, Lukasz Mazurkiewicz, Monika Gawor, Katarzyna Kozuch, Barbara Milosz-Wieczorek, Jacek Grzybowski, Zofia Bilinska, Adam Witkowski, Anna Klisiewicz, Magdalena Marczak
Summary: In this study of 673 HCM patients, differences in left ventricular wall thickness measurements between echocardiography and MRI resulted in significant variations in the calculated 5-year risk of sudden cardiac death, highlighting the importance of accurate measurement techniques in assessing SCD risk in HCM patients.
SCIENTIFIC REPORTS
(2021)
Article
Biology
Agnieszka Lugowska, Joanna K. Purzycka-Olewiecka, Rafal Ploski, Grazyna Truszkowska, Maciej Pronicki, Paulina Felczak, Mateusz Spiewak, Aleksandra Podlecka-Pietowska, Martyna Sitek, Zofia T. Bilinska, Przemyslaw Leszek, Malgorzata Bednarska-Makaruk
Summary: We report a case of a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure due to dilated cardiomyopathy of unknown origin. The patient exhibited clinical symptoms of benign forms of ceroid lipofuscinosis type 2 (CLN2) and autosomal recessive spinocerebellar ataxia type 7 (SCAR7), both caused by mutations in the TPP1 gene.
Article
Medicine, General & Internal
Przemyslaw Chmielewski, Grazyna Truszkowska, Ilona Kowalik, Malgorzata Rydzanicz, Ewa Michalak, Malgorzata Sobieszczanska-Malek, Maria Franaszczyk, Piotr Stawinski, Malgorzata Stepien-Wojno, Artur Oreziak, Michal Lewandowski, Przemyslaw Leszek, Maria Bilinska, Tomasz Zielinski, Rafal Ploski, Zofia T. Bilinska
Summary: TTNtv truncating variants are a leading cause of dilated cardiomyopathy (DCM). Circulating cardiac biomarkers like hs-cTnT and NT-proBNP may not be useful for early disease detection but can assist in risk assessment. NT-proBNP levels >= 650 pg/mL are the best predictor of composite endpoints MVA and esHF in TTNtv carriers.
Letter
Medicine, General & Internal
Ewa Michalak, Maria Franaszczyk, Malgorzata Sobieszczanska-Malek, Maciej Karcz, Sylwia Szymanska, Justyna Szczygiel, Anna Lutynska, Rafal Ploski, Zofia T. Bilinska
ARCHIVES OF MEDICAL SCIENCE
(2020)
Article
Cell Biology
Hannah A. Nicolas, Anne T. Bertrand, Sarah Labib, Musfira Mohamed-Uvaize, Pierrette M. Bolongo, Wen Yu Wu, Zofia T. Bilinska, Gisele Bonne, Marie-Andree Akimenko, Frederique Tesson
Article
Medicine, General & Internal
Malgorzata Stepien-Wojno, Joanna Poninska, Malgorzata Rydzanicz, Maria Bilinska, Grazyna Truszkowska, Rafal Baranowski, Anna Lutynska, Elzbieta K. Biernacka, Janina Stepinska, Ilona Kowalik, Rafal Ploski, Zofia T. Bilinska
POLISH ARCHIVES OF INTERNAL MEDICINE-POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ
(2018)