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.

Bianchi, A., Manti, P., Lucini, F., Lanzuolo, C. (2018). Mechanotransduction, nuclear architecture and epigenetics in emery dreifuss muscular dystrophy: Tous pour un, un pour tous. NUCLEUS, 9(1), 321-335 [10.1080/19491034.2018.1460044].

Mechanotransduction, nuclear architecture and epigenetics in emery dreifuss muscular dystrophy: Tous pour un, un pour tous

LUCINI, FEDERICA;
2018

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.
Articolo in rivista - Review Essay
Emery Dreifuss Muscular Dystrophy; Epigenetics; Lamin A/Cmechanotrasduction; Nuclear architecture; Transcription; Animals; Cell Nucleus; Humans; Mechanotransduction, Cellular; Muscular Dystrophy, Emery-Dreifuss; Epigenesis, Genetic
English
2018
9
1
321
335
none
Bianchi, A., Manti, P., Lucini, F., Lanzuolo, C. (2018). Mechanotransduction, nuclear architecture and epigenetics in emery dreifuss muscular dystrophy: Tous pour un, un pour tous. NUCLEUS, 9(1), 321-335 [10.1080/19491034.2018.1460044].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/246553
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