open access

Vol 21, No 4 (2014)
Review paper
Published online: 2014-08-29
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Lamin A/C mutations in dilated cardiomyopathy

Frédérique Tesson, Michal Saj, Musfira Mohamed Uvaize, Hannah Nicolas, Rafał Płoski, Zofia Bilińska
DOI: 10.5603/CJ.a2014.0037
·
Cardiol J 2014;21(4):331-342.

open access

Vol 21, No 4 (2014)
Review articles
Published online: 2014-08-29

Abstract

Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure and heart transplant. Mutations in 60 genes have been associated with DCM. Approximately 6% of all DCM cases are caused by mutations in the lamin A/C gene (LMNA). LMNA codes for type-V intermediate filaments that support the structure of the nuclear membrane and are involved in chromatin structure and gene expression. Most LMNA mutations result in striated muscle diseases while the rest affects the adipose tissue, peripheral nervous system, multiple tissues or lead to progeroid syndromes/overlapping syndromes. Patients with LMNA mutations exhibit a variety of cellular and physiological phenotypes. This paper explores the current phenotypes observed in LMNA-caused DCM, the results and implications of the cellular and animal models of DCM and the prevailing theories on the pathogenesis of laminopathies.

Abstract

Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure and heart transplant. Mutations in 60 genes have been associated with DCM. Approximately 6% of all DCM cases are caused by mutations in the lamin A/C gene (LMNA). LMNA codes for type-V intermediate filaments that support the structure of the nuclear membrane and are involved in chromatin structure and gene expression. Most LMNA mutations result in striated muscle diseases while the rest affects the adipose tissue, peripheral nervous system, multiple tissues or lead to progeroid syndromes/overlapping syndromes. Patients with LMNA mutations exhibit a variety of cellular and physiological phenotypes. This paper explores the current phenotypes observed in LMNA-caused DCM, the results and implications of the cellular and animal models of DCM and the prevailing theories on the pathogenesis of laminopathies.

Get Citation

Keywords

genetics, dilated cardiomyopathy, LMNA

About this article
Title

Lamin A/C mutations in dilated cardiomyopathy

Journal

Cardiology Journal

Issue

Vol 21, No 4 (2014)

Article type

Review paper

Pages

331-342

Published online

2014-08-29

DOI

10.5603/CJ.a2014.0037

Bibliographic record

Cardiol J 2014;21(4):331-342.

Keywords

genetics
dilated cardiomyopathy
LMNA

Authors

Frédérique Tesson
Michal Saj
Musfira Mohamed Uvaize
Hannah Nicolas
Rafał Płoski
Zofia Bilińska

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