Abstract:
OBJECTIVES:We investigated the prevalence of lamin A/C (LMNA) gene defects in familial and sporadic dilated cardiomyopathies (DCM) associated with atrioventricular block (AVB) or increased serum creatine-phosphokinase (sCPK), and the corresponding changes in myocardial and protein expression. BACKGROUND:It has been reported that familial DCM, associated with conduction disturbances or variable myopathies, is causally linked to LMNA gene defects. METHODS:The LMNA gene and myocardial ultrastructural and immunochemical changes were analyzed in 73 cases of DCM (49 pure, 15 with AVB [seven familial, eight sporadic], 9 with increased sCPK), four cases of familial AVB and 19 non-DCM heart diseases. The normal controls included eight heart donor biopsies for tissue studies and 107 subjects for LMNA gene studies. RESULTS:Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1,713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%). The LMNA expression of the myocyte nuclei was reduced or absent. Western blot protein analyses of three hearts with different mutations showed an additional 30-kDa band, suggesting a degrading effect of mutated on wild-type protein. Focal disruptions, bleb formation and nuclear pore clustering were documented by electron microscopy of the myocyte nuclear membranes. None of these changes and no mutations were found in the nine patients with DCM and increased sCPK or in the disease and normal controls. CONCLUSIONS:The LMNA gene mutations account for 33% of the DCMs with AVB, all familial autosomal dominant. Increased sCPK in patients with DCM without AVB is not a useful predictor of LMNA mutation.
journal_name
J Am Coll Cardioljournal_title
Journal of the American College of Cardiologyauthors
Arbustini E,Pilotto A,Repetto A,Grasso M,Negri A,Diegoli M,Campana C,Scelsi L,Baldini E,Gavazzi A,Tavazzi Ldoi
10.1016/s0735-1097(02)01724-2subject
Has Abstractpub_date
2002-03-20 00:00:00pages
981-90issue
6eissn
0735-1097issn
1558-3597pii
S0735109702017242journal_volume
39pub_type
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pub_type: 杂志文章,meta分析,评审
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更新日期:1998-01-01 00:00:00
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更新日期:2001-01-01 00:00:00
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更新日期:2010-03-23 00:00:00
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更新日期:2005-11-01 00:00:00
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更新日期:1989-09-01 00:00:00