Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis.

ABSTRACT:

Background

Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene expression, and signal transduction. LMNA mutations predominantly affect mesoderm-derived cell lineages in diseases collectively termed as laminopathies that include dilated cardiomyopathy with conduction defects, different forms of muscular dystrophies, and premature aging syndromes as Hutchinson-Gilford Progeria Syndrome. At present, our understanding of the molecular mechanisms regulating tissue-specific manifestations of laminopathies are still limited.

Methods

To gain deeper insight into the molecular mechanism of a novel LMNA splice-site mutation (c.357-

SUBMITTER: Widyastuti HP 

PROVIDER: S-EPMC7374820 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature