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Upregulation of the aging related LMNA splice variant progerin in dilated cardiomyopathy

Moritz Messner1, Santhosh Kumar Ghadge1, Valentina Goetsch1

  • 1Medical University Innsbruck, Department of Internal Medicine III, Cardiology and Angiology, Innsbruck, Tirol, Austria.

Plos One
|April 28, 2018
PubMed

Insights

Progerin, a protein linked to aging, is elevated in dilated cardiomyopathy (DCM) hearts, correlating with heart remodeling and potentially contributing to heart failure progression.

Area of Science:

  • Cardiovascular Biology
  • Molecular Genetics
  • Aging Research

Background:

  • Dilated cardiomyopathy (DCM) is a significant cause of heart failure, with LMNA gene mutations implicated in 6-8% of cases.
  • Hutchinson-Gilford syndrome (HGPS) arises from LMNA mutations, causing progerin accumulation and premature aging.
  • Progerin is present at low levels in healthy individuals and associated with aging.

Purpose of the Study:

  • To investigate the role of progerin in the pathogenesis of dilated cardiomyopathy.
  • To analyze progerin mRNA and protein expression in human DCM hearts and blood.

Main Methods:

  • Quantified progerin mRNA in heart tissue and blood from DCM patients and controls using sequencing.
  • Performed linear regression to correlate progerin levels with cardiac function (ejection fraction, left ventricular diameter).
  • Utilized immunohistochemistry and immunofluorescence to assess progerin protein expression and apoptosis in heart tissue.

Main Results:

  • Progerin mRNA was significantly upregulated in DCM hearts compared to controls.
  • Heart progerin mRNA levels negatively correlated with ejection fraction and positively with left ventricular end-diastolic diameter.
  • Increased progerin protein expression in DCM hearts was associated with heightened cellular apoptosis.

Conclusions:

  • Progerin is upregulated in human DCM hearts and linked to left ventricular remodeling.
  • Progerin may play a role in the progression of heart failure and myocardial aging.
Abstract

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