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Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous.
- Source :
- Nucleus (1949-1034); 2019 Supplement, Vol. 10, p321-335, 15p
- Publication Year :
- 2019
-
Abstract
- The alteration of the several roles that Lamin A/C plays in the mammalian cell leads to a broad spectrum of pathologies that - all together - are named laminopathies. Among those, the Emery Dreifuss Muscular Dystrophy (EDMD) is of particular interest as, despite the several known mutations of Lamin A/C, the genotype-phenotype correlation still remains poorly understood; this suggests that the epigenetic background of patients might play an important role during the time course of the disease. Historically, both a mechanical role of Lamin A/C and a regulative one have been suggested as the driving force of laminopathies; however, those two hypotheses are not mutually exclusive. Recent scientific evidence shows that Lamin A/C sustains the correct gene expression at the epigenetic level thanks to the Lamina Associated Domains (LADs) reorganization and the crosstalk with the Polycomb Group of Proteins (PcG). Furthermore, the PcG-dependent histone mark H3K27me3 increases under mechanical stress, finally pointing out the link between the mechano-properties of the nuclear lamina and epigenetics. Here, we summarize the emerging mechanisms that could explain the high variability seen in Emery Dreifuss muscular dystrophy. [ABSTRACT FROM AUTHOR]
- Subjects :
- EPIGENETICS
MUSCULAR dystrophy
Subjects
Details
- Language :
- English
- ISSN :
- 19491034
- Volume :
- 10
- Database :
- Complementary Index
- Journal :
- Nucleus (1949-1034)
- Publication Type :
- Academic Journal
- Accession number :
- 135222386
- Full Text :
- https://doi.org/10.1080/19491034.2018.1460044