Current insights into LMNA cardiomyopathies: Existing models and missing LINCs

Daniel Brayson; Catherine M. Shanahan

doi:10.1080/19491034.2016.1260798

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs

Daniel Brayson, Catherine M. Shanahan^*

^*Corresponding author for this work

Cardiovascular Sciences

Research output: Contribution to journal › Article › peer-review

57 Citations (Scopus)

347 Downloads (Pure)

Abstract

The nuclear lamina is a critical structural domain for the maintenance of genomic stability and whole-cell mechanics. Mutations in the LMNA gene, which encodes nuclear A-type lamins lead to the disruption of these key cellular functions, resulting in a number of devastating diseases known as laminopathies. Cardiomyopathy is a common laminopathy and is highly penetrant with poor prognosis. To date, cell mechanical instability and dysregulation of gene expression have been proposed as the main mechanisms driving cardiac dysfunction, and indeed discoveries in these areas have provided some promising leads in terms of therapeutics. However, important questions remain unanswered regarding the role of lamin A dysfunction in the heart, including a potential role for the toxicity of lamin A precursors in LMNA cardiomyopathy, which has yet to be rigorously investigated.

Original language	English
Pages (from-to)	17-33
Number of pages	17
Journal	Nucleus-Austin
Volume	8
Issue number	1
Early online date	26 Jan 2017
DOIs	https://doi.org/10.1080/19491034.2016.1260798
Publication status	E-pub ahead of print - 26 Jan 2017

Keywords

cardiomyocyte
cardiomyopathy
LINC complex
LMNA
mechanotransduction
nuclear lamina
prelamin A

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Current insights into LMNA cardiomyopathies Existing models and missing LINCs_BRAYSON_Firstonline26January2017_GOLD VoR (CC-BY-NC-ND) (1)Final published version, 1.12 MBLicence: CC BY-NC-ND

Cite this

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KW - cardiomyopathy

KW - LINC complex

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Current insights into LMNA cardiomyopathies: Existing models and missing LINCs

Abstract

Keywords

UN SDGs

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