Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect

Biochemical and Biophysical Research Communications
Hu WangRutai Hui

Abstract

Dilated cardiomyopathy is a form of heart muscle disease characterized by impaired systolic function and ventricular dilation. The mutations in lamin A/C gene have been linked to dilated cardiomyopathy. We screened genetic mutations in a large Chinese family of 50 members including members with dilated cardiomyopathy and found a Glu82Lys substitution mutation in the rod domain of the lamin A/C protein in eight family members, three of them have been diagnosed as dilated cardiomyopathy, one presented with heart dilation. The pathogenic mechanism of lamin A/C gene defect is poorly understood. Glu82Lys mutated lamin A/C and wild type protein was transfected into HEK293 cells. The mutated protein was not properly localized at the inner nuclear membrane and the emerin protein, which interacts with lamin A/C, was also aberrantly distributed. The nuclear membrane structure was disrupted and heterochromatin was aggregated aberrantly in the nucleus of the HEK293 cells stably transfected with mutated lamin A/C gene as determined by transmission electron microscopy.

References

Sep 1, 1990·European Heart Journal·M KomajdaD Carrie
Jun 15, 1990·The American Journal of Cardiology·L MestroniF Camerini
Mar 1, 1994·Journal of the American College of Cardiology·E K KasperK L Baughman
Mar 15, 1997·Journal of the American College of Cardiology·J S ShinbaneM M Scheinman
Aug 13, 1998·Journal of the Neurological Sciences·A FidziańskaI Hausmanowa-Petrusewicz
Sep 2, 1998·Journal of Structural Biology·N StuurmanU Aebi
Feb 16, 2000·Biochemical and Biophysical Research Communications·L ClementsG E Morris
Mar 16, 2000·The New England Journal of Medicine·M C DalakasL G Goldfarb
Mar 31, 2000·Trends in Cell Biology·K L Wilson
Jun 6, 2000·Neuromuscular Disorders : NMD·G E Morris
Jan 11, 2000·Human Mutation·J Genschel, H H Schmidt
Jan 4, 2001·Pacing and Clinical Electrophysiology : PACE·H M BécaneD Duboc
Mar 6, 2002·Genes & Development·Robert D GoldmanTimothy P Spann
Mar 19, 2002·Journal of the American College of Cardiology·Eloisa ArbustiniLuigi Tavazzi
Aug 19, 2003·International Review of Cytology·Yosef GruenbaumAvital Enosh
Dec 17, 2003·European Journal of Heart Failure·Jean-François ForissierMichel Komajda
Feb 3, 2004·The Journal of Clinical Investigation·Howard J Worman, Jean-Claude Courvalin
Feb 3, 2004·The Journal of Clinical Investigation·Jan LammerdingRichard T Lee
Apr 22, 2004·Proceedings of the National Academy of Sciences of the United States of America·Alexandra FridkinYosef Gruenbaum
Jun 9, 2004·Proceedings of the National Academy of Sciences of the United States of America·Robert D GoldmanFrancis S Collins
Jun 29, 2004·The American Journal of Cardiology·Manuel Hermida-PrietoMarisa Crespo-Leiro
Jan 2, 2014·Seminars in Cell & Developmental Biology·C J Hutchison

❮ Previous
Next ❯

Citations

Dec 22, 2011·Human Molecular Genetics·George DialynasLori L Wallrath
Mar 30, 2010·Heart Failure Clinics·Diane FatkinZara Richmond

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Atrial Filbrillation

Atrial fibrillation refers to the abnormal heart rhythm characterized by rapid and irregular beating of the atria. Here is the latest research.

Cardiac Conduction System

The cardiac conduction system is a specialized tract of myocardial cells responsible for maintaining normal cardiac rhythm. Discover the latest research on the cardiac conduction system here.

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.