How do mutations in lamins A and C cause disease?
Mutations in lamins A and C, nuclear intermediate-filament proteins in nearly all somatic cells, cause a variety of diseases that primarily affect striated muscle, adipocytes, or peripheral nerves or cause features of premature aging. Two new studies (see the related articles beginning on pages 357 and 370) use lamin A/C-deficient mice, which develop striated muscle disease, as a model to investigate pathogenic mechanisms. These reports provide evidence for a stepwise process in which mechanically stressed cells first develop chromatin and nuclear envelope damage and then develop secondary alterations in the transcriptional activation of genes in adaptive and protective pathways.
19 references, click to expand
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Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins.Nature. 1986 Feb 6-12;319(6053):463-8 PMID: 3453101
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Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.J Cell Sci. 2001 Dec;114(Pt 24):4435-45 PMID: 11792809
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Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.J Cell Sci. 2001 Dec;114(Pt 24):4459-68 PMID: 11792811
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Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy.Exp Cell Res. 2003 Jan 1;282(1):14-23 PMID: 12490190
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The nuclear lamina and inherited disease.Trends Cell Biol. 2002 Dec;12(12):591-8 PMID: 12495848
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Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.Nature. 2003 May 15;423(6937):293-8 PMID: 12714972
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Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.J Cell Sci. 2003 Jul 15;116(Pt 14):3027-35 PMID: 12783988
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Lamin a truncation in Hutchinson-Gilford progeria.Science. 2003 Jun 27;300(5628):2055 PMID: 12702809
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Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice.J Clin Invest. 2004 Feb;113(3):357-69 PMID: 14755333
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Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.J Clin Invest. 2004 Feb;113(3):370-8 PMID: 14755334
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Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.J Cell Sci. 2001 Dec;114(Pt 24):4447-57 PMID: 11792810
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cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.Proc Natl Acad Sci U S A. 1986 Sep;83(17):6450-4 PMID: 3462705
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The nuclear lamina is a meshwork of intermediate-type filaments.Nature. 1986 Oct 9-15;323(6088):560-4 PMID: 3762708
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Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C.J Biol Chem. 1993 Aug 5;268(22):16321-6 PMID: 8344919
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Positional cloning of the Werner's syndrome gene.Science. 1996 Apr 12;272(5259):258-62 PMID: 8602509
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Dynamic repositioning of genes in the nucleus of lymphocytes preparing for cell division.Mol Cell. 1999 Feb;3(2):207-17 PMID: 10078203
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Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy.J Cell Biol. 1999 Nov 29;147(5):913-20 PMID: 10579712
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Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.N Engl J Med. 2000 Mar 16;342(11):770-80 PMID: 10717012
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