109 A mutation at chromosome 7q22.3-33.1 can lead to autosomal-dominant dilated cardiomyopathy

2005 ◽  
Vol 4 (1) ◽  
pp. 25-26
Keyword(s):  
Dilated Cardiomyopathy ◽  
Autosomal Dominant

Molecular signatures of Emery–Dreifuss muscular dystrophy

2008 ◽  
Vol 36 (6) ◽  
pp. 1354-1358 ◽  
Author(s):  
Matthew A. Wheeler ◽  
Juliet A. Ellis
Keyword(s):  
Muscular Dystrophy ◽  
Dilated Cardiomyopathy ◽  
Molecular Mechanisms ◽  
Autosomal Dominant ◽  
Signalling Pathways ◽  
Lamin A ◽  
Degenerative Diseases ◽  
Hypertrophic Growth ◽  
Genes Encoding

Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery–Dreifuss muscular dystrophy). The molecular mechanisms underlying these disorders are poorly understood; however, recent work using animal models has identified a number of signalling pathways that are altered in response to the deletion of either emerin or lamin A/C or expression of Lmna mutants found in patients with laminopathies. A distinguishing feature of patients with EDMD is the association of a dilated cardiomyopathy with conduction defects. In the present article, we describe several of the pathways altered in response to an EDMD phenotype, which are known to be key mediators of hypertrophic growth, and focus on a possible role of an emerin–β-catenin interaction in the pathogenesis of this disease.

scholarly journals Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

2002 ◽  
Vol 39 (6) ◽  
pp. 981-990 ◽  
Author(s):  
Eloisa Arbustini ◽  
Andrea Pilotto ◽  
Alessandra Repetto ◽  
Maurizia Grasso ◽  
Andrea Negri ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Atrioventricular Block ◽  
Autosomal Dominant ◽  
Lamin A ◽  
Related Disease

scholarly journals A novel lamin A/C missense mutation in a family with autosomal dominant dilated cardiomyopathy with conduction abnormalities

2002 ◽  
Vol 39 ◽  
pp. 136 ◽  
Author(s):  
Ryuichiro Anan ◽  
Hideshi Niimura ◽  
Takeshi Sasaki ◽  
J.G. Seidman ◽  
Christine E. Seidman ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Lamin A ◽  
Conduction Abnormalities

scholarly journals Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.

1996 ◽  
Vol 98 (6) ◽  
pp. 1355-1360 ◽  
Author(s):  
K R Bowles ◽  
R Gajarski ◽  
P Porter ◽  
V Goytia ◽  
L Bachinski ◽  
...  
Keyword(s):  
Gene Mapping ◽  
Dilated Cardiomyopathy ◽  
Autosomal Dominant

Nuclear envelope defects associated withLMNAmutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

2001 ◽  
Vol 114 (24) ◽  
pp. 4447-4457 ◽  
Author(s):  
Wahyu Hendrati Raharjo ◽  
Paul Enarson ◽  
Teresa Sullivan ◽  
Colin L. Stewart ◽  
Brian Burke
Keyword(s):  
Muscular Dystrophy ◽  
Dilated Cardiomyopathy ◽  
Hela Cells ◽  
Autosomal Dominant ◽  
Nuclear Periphery ◽  
Point Mutations ◽  
Molecular Organization ◽  
Structural Defects ◽  
Lamin A ◽  
Dominant Form

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.

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