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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.JC

Abstract

Nuclear lamin A and C alleles that are linked to three distinct human diseases have been expressed both in HeLa cells and in fibroblasts derived from Lmna null mice. Point mutations that cause dilated cardiomyopathy (L85R and N195K) and autosomal dominant Emery-Dreifuss muscular dystrophy (L530P) modify the assembly properties of lamins A and C and cause partial mislocalization of emerin, an inner nuclear membrane protein, in HeLa cells. At the same time, these mutant lamins interfere with the targeting and assembly of endogenous lamins and in this way may cause significant changes in the molecular organization of the nuclear periphery. By contrast, lamin A and C molecules harboring a point mutation (R482W), which gives rise to a dominant form of familial partial lipodystrophy, behave in a manner that is indistinguishable from wild-type lamins A and C, at least with respect to targeting and assembly within the nuclear lamina. Taken together, these results suggest that nuclear structural defects could contribute to the etiology of both dilated cardiomyopathy and autosomal dominant Emery-Dreifuss muscular dystrophy.

Authors+Show Affiliations

Department of Cell Biology and Anatomy, University of Calgary, 3330 Hospital Drive NW, Calgary, Alberta T2N 4N1, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11792810

Citation

Raharjo, W H., et al. "Nuclear Envelope Defects Associated With LMNA Mutations Cause Dilated Cardiomyopathy and Emery-Dreifuss Muscular Dystrophy." Journal of Cell Science, vol. 114, no. Pt 24, 2001, pp. 4447-57.
Raharjo WH, Enarson P, Sullivan T, et al. Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. J Cell Sci. 2001;114(Pt 24):4447-57.
Raharjo, W. H., Enarson, P., Sullivan, T., Stewart, C. L., & Burke, B. (2001). Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. Journal of Cell Science, 114(Pt 24), 4447-57.
Raharjo WH, et al. Nuclear Envelope Defects Associated With LMNA Mutations Cause Dilated Cardiomyopathy and Emery-Dreifuss Muscular Dystrophy. J Cell Sci. 2001;114(Pt 24):4447-57. PubMed PMID: 11792810.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. AU - Raharjo,W H, AU - Enarson,P, AU - Sullivan,T, AU - Stewart,C L, AU - Burke,B, PY - 2002/1/17/pubmed PY - 2002/3/22/medline PY - 2002/1/17/entrez SP - 4447 EP - 57 JF - Journal of cell science JO - J Cell Sci VL - 114 IS - Pt 24 N2 - Nuclear lamin A and C alleles that are linked to three distinct human diseases have been expressed both in HeLa cells and in fibroblasts derived from Lmna null mice. Point mutations that cause dilated cardiomyopathy (L85R and N195K) and autosomal dominant Emery-Dreifuss muscular dystrophy (L530P) modify the assembly properties of lamins A and C and cause partial mislocalization of emerin, an inner nuclear membrane protein, in HeLa cells. At the same time, these mutant lamins interfere with the targeting and assembly of endogenous lamins and in this way may cause significant changes in the molecular organization of the nuclear periphery. By contrast, lamin A and C molecules harboring a point mutation (R482W), which gives rise to a dominant form of familial partial lipodystrophy, behave in a manner that is indistinguishable from wild-type lamins A and C, at least with respect to targeting and assembly within the nuclear lamina. Taken together, these results suggest that nuclear structural defects could contribute to the etiology of both dilated cardiomyopathy and autosomal dominant Emery-Dreifuss muscular dystrophy. SN - 0021-9533 UR - https://www.unboundmedicine.com/medline/citation/11792810/Nuclear_envelope_defects_associated_with_LMNA_mutations_cause_dilated_cardiomyopathy_and_Emery_Dreifuss_muscular_dystrophy_ L2 - http://jcs.biologists.org/cgi/pmidlookup?view=long&pmid=11792810 DB - PRIME DP - Unbound Medicine ER -