Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.

Abstract:

:Autosomal recessive mandibuloacral dysplasia [mandibuloacral dysplasia type A (MADA); Online Mendelian Inheritance in Man (OMIM) no. 248370] is caused by a mutation in LMNA encoding lamin A/C. Here we show that this mutation causes accumulation of the lamin A precursor protein, a marked alteration of the nuclear architecture and, hence, chromatin disorganization. Heterochromatin domains are altered or completely lost in MADA nuclei, consistent with the finding that heterochromatin-associated protein HP1beta and histone H3 methylated at lysine 9 and their nuclear envelope partner protein lamin B receptor (LBR) are delocalized and solubilized. Both accumulation of lamin A precursor and chromatin defects become more severe in older patients. These results strongly suggest that altered chromatin remodeling is a key event in the cascade of epigenetic events causing MADA and could be related to the premature-aging phenotype.

journal_name

Physiol Genomics

journal_title

Physiological genomics

authors

Filesi I,Gullotta F,Lattanzi G,D'Apice MR,Capanni C,Nardone AM,Columbaro M,Scarano G,Mattioli E,Sabatelli P,Maraldi NM,Biocca S,Novelli G

doi

10.1152/physiolgenomics.00060.2005

subject

Has Abstract

pub_date

2005-10-17 00:00:00

pages

150-8

issue

2

eissn

1094-8341

issn

1531-2267

pii

00060.2005

journal_volume

23

pub_type

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