Nuclear lamina remodelling and its implications for human disease

被引:20
作者
Chojnowski, Alexandre [2 ]
Ong, Peh Fern [1 ]
Dreesen, Oliver [1 ]
机构
[1] Inst Med Biol, Cellular Ageing, Singapore 138648, Singapore
[2] Inst Med Biol, Dev & Regenerat Biol, Singapore 138648, Singapore
关键词
Lamin A/C; Lamin B1; Laminopathies; Lamina remodelling; Hutchinson-Gilford progeria syndrome; Autosomal dominant leukodystrophy; B-TYPE LAMINS; A-TYPE LAMIN; TELOMERE LENGTH; A/C EXPRESSION; FARNESYLATION INHIBITORS; MAMMALIAN-CELLS; MOUSE; PROTEIN; DEFECTS; ARCHITECTURE;
D O I
10.1007/s00441-014-2069-4
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
The intermediate filament A- and B-type lamins are key architectural components of the nuclear lamina, a protein-aceous meshwork that lies underneath the inner nuclear membrane. In the past decade, many different monogenic human diseases have been linked to mutations in various components of the nuclear lamina. Mutations in LMNA (encoding lamin A and C) cause a variety of human diseases, collectively called laminopathies. These include cardiomyopathies, muscular dystrophies, lipodystrophies and progeroid syndromes. In addition, elevated levels of lamin B1, attributable to genomic duplications of the LMNB1 locus, cause adult-onset autosomal dominant leukodystrophy. The molecular mechanism(s) enabling themutations and perturbations of the nuclear lamina to give rise to such a wide variety of diseases that affect various tissues remains unclear. The composition of the nuclear lamina changes dynamically during development, between cell types and even within the same cell during differentiation and ageing. Here, we discuss the functional and cellular aspects of lamina remodelling and their implications for the tissue-specific nature of laminopathies.
引用
收藏
页码:621 / 631
页数:11
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