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Lamin A/C mutations in dilated cardiomyopathy

Frédérique Tesson1, Michal Saj, Musfira Mohamed Uvaize

  • 1Faculty of Health Sciences, University of Ottawa, Ottawa, ON, Canada. ftesson@uOttawa.ca.

Cardiology Journal
|May 22, 2014
PubMed

Insights

Mutations in the lamin A/C gene (LMNA) cause dilated cardiomyopathy (DCM), a leading cause of heart failure. This review covers LMNA mutation phenotypes, disease models, and pathogenesis theories for laminopathies.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a primary cause of heart failure and heart transplantation.
  • Mutations in approximately 60 genes are linked to DCM, with mutations in the lamin A/C gene (LMNA) accounting for about 6% of cases.
  • LMNA encodes type-V intermediate filaments crucial for nuclear membrane structure, chromatin organization, and gene expression.

Purpose of the Study:

  • To explore the diverse phenotypes associated with LMNA-caused DCM.
  • To review findings from cellular and animal models of DCM.
  • To discuss current theories on the pathogenesis of laminopathies.

Main Methods:

  • Literature review of phenotypes in LMNA-mutation patients.
  • Analysis of results from cellular and animal models of DCM.
  • Synthesis of prevailing theories on laminopathy pathogenesis.

Main Results:

  • LMNA mutations manifest in various cellular and physiological phenotypes.
  • Disease models provide insights into the mechanisms of LMNA-related cardiomyopathies.
  • Understanding pathogenesis is key to developing therapeutic strategies.

Conclusions:

  • LMNA mutations represent a significant genetic cause of DCM with diverse clinical presentations.
  • Cellular and animal models are instrumental in elucidating disease mechanisms.
  • Further research into laminopathy pathogenesis may lead to targeted treatments for DCM.

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