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Epigenetics in LMNA-Related Cardiomyopathy
Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as laminopathies. LMNA-related cardiomyopathy is a common inherited heart disease and is highly penetrant with a poor prognosis. In the past years, numerous investigations using mouse models, stem cell technologies, a...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10001118/ https://www.ncbi.nlm.nih.gov/pubmed/36899919 http://dx.doi.org/10.3390/cells12050783 |
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author | Wang, Yinuo Dobreva, Gergana |
author_facet | Wang, Yinuo Dobreva, Gergana |
author_sort | Wang, Yinuo |
collection | PubMed |
description | Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as laminopathies. LMNA-related cardiomyopathy is a common inherited heart disease and is highly penetrant with a poor prognosis. In the past years, numerous investigations using mouse models, stem cell technologies, and patient samples have characterized the phenotypic diversity caused by specific LMNA variants and contributed to understanding the molecular mechanisms underlying the pathogenesis of heart disease. As a component of the nuclear envelope, LMNA regulates nuclear mechanostability and function, chromatin organization, and gene transcription. This review will focus on the different cardiomyopathies caused by LMNA mutations, address the role of LMNA in chromatin organization and gene regulation, and discuss how these processes go awry in heart disease. |
format | Online Article Text |
id | pubmed-10001118 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-100011182023-03-11 Epigenetics in LMNA-Related Cardiomyopathy Wang, Yinuo Dobreva, Gergana Cells Review Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as laminopathies. LMNA-related cardiomyopathy is a common inherited heart disease and is highly penetrant with a poor prognosis. In the past years, numerous investigations using mouse models, stem cell technologies, and patient samples have characterized the phenotypic diversity caused by specific LMNA variants and contributed to understanding the molecular mechanisms underlying the pathogenesis of heart disease. As a component of the nuclear envelope, LMNA regulates nuclear mechanostability and function, chromatin organization, and gene transcription. This review will focus on the different cardiomyopathies caused by LMNA mutations, address the role of LMNA in chromatin organization and gene regulation, and discuss how these processes go awry in heart disease. MDPI 2023-03-01 /pmc/articles/PMC10001118/ /pubmed/36899919 http://dx.doi.org/10.3390/cells12050783 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Wang, Yinuo Dobreva, Gergana Epigenetics in LMNA-Related Cardiomyopathy |
title | Epigenetics in LMNA-Related Cardiomyopathy |
title_full | Epigenetics in LMNA-Related Cardiomyopathy |
title_fullStr | Epigenetics in LMNA-Related Cardiomyopathy |
title_full_unstemmed | Epigenetics in LMNA-Related Cardiomyopathy |
title_short | Epigenetics in LMNA-Related Cardiomyopathy |
title_sort | epigenetics in lmna-related cardiomyopathy |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10001118/ https://www.ncbi.nlm.nih.gov/pubmed/36899919 http://dx.doi.org/10.3390/cells12050783 |
work_keys_str_mv | AT wangyinuo epigeneticsinlmnarelatedcardiomyopathy AT dobrevagergana epigeneticsinlmnarelatedcardiomyopathy |