Lamin A/C and cardiac diseases.
OBJECTIVE
In this review, we will outline the most recent and significant findings on the role of the lamin A/C in cardiac diseases.


RESULTS
Mutations in the lamin A/C gene (LMNA) are associated with numerous diseases involving the heart, skeletal muscles, bones, adipose and nervous tissues. LMNA is one of the most prevalent genes in dilated cardiomyopathy in which it is associated with a high risk of dysrhythmias, sudden death and heart failure. Lamins A and C interact with several proteins reflecting their multiple functions, some of which are likely still unknown. No abnormalities specific to dilated cardiomyopathy are emerging from investigations of striated muscles biopsies or fibroblasts from LMNA mutation carriers. An early diagnosis of the disease is difficult. Both animal and cellular models tend to confirm that lamins A and C play a key role in maintaining the nuclear architecture as well as in regulating transcription.


CONCLUSIONS
The cardiac phenotype associated to LMNA mutations is now much clearer, but the molecular mechanisms underlying cellular and tissue specific phenotypes are still puzzling. Systematic mutation screenings and cardioverter-defibrillator implantation have been recommended in patients with cardiac symptoms.
Sylvius
Nicolas
N
University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
Tesson
Frédérique
F
D000818:Animals; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D004195:Disease Models, Animal; D005799:Genes, Dominant; D006331:Heart Diseases / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype; D011379:Prognosis
C494847:LMNA protein, human; D034904:Lamin Type A