Lamin A/C mutations in dilated cardiomyopathy.
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.
Faculty of Health Sciences, University of Ottawa, Ottawa, ON, Canada. ftesson@uOttawa.ca.
Frédérique
F
Tesson
Michal
M
Saj
Musfira Mohamed
MM
Uvaize
Hannah
H
Nicolas
Rafał
R
Płoski
Zofia
Z
Bilińska
D000818:Animals; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011379:Prognosis
C494847:LMNA protein, human; D034904:Lamin Type A