Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy

Cohen, Niaz; Muntoni, Francesco

doi:10.1136/hrt.2003.023390

Cited by 72 publications

(54 citation statements)

References 67 publications

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“…In addition, less severe mutations of dystrophin, such as missense mutations, may be associated with the sporadic form of DCM. 35 The clinical characteristics of DCM caused by dystrophin mutations have X-linked inheritance and are associated with increased CK concentrations, 29,32 as seen in the present study. Epidemiologic studies in Japan have reported that the male-to-female ratio is 2.6 for DCM, 1 which is comparable with the current finding demonstrating X-linked inheritance in several patients with dystrophin mutations.…”

Section: Discussionsupporting

confidence: 54%

“…31 However, genotype -phenotype correlations in patients with dystrophin gene mutations have not been completely determined. To date, 16 different mutations have been reported in patients with DCM and Cohen and Muntoni 32 proposed the following classification: Group A to include mutations affecting transcription or splicing of the dystrophin gene at the 5' end of the gene, and Group B to include mutations in which specific protein domains of dystrophin are affected. Mutations identified in the present study would be categorized as Group B, and all of the present patients had a deletion of exon 48.…”

Section: Discussionmentioning

confidence: 99%

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Gene Mutations in Adult Japanese Patients With Dilated Cardiomyopathy

Shimizu

Ino

Yasuda

et al. 2005

Circ J

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Section: Discussionsupporting

confidence: 54%

Section: Discussionmentioning

confidence: 99%

Gene Mutations in Adult Japanese Patients With Dilated Cardiomyopathy

Shimizu

Ino

Yasuda

et al. 2005

Circ J

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“…54 X-linked DCM is a rare form of familial DCM almost exclusively affecting males. 55 DMD mutations are known to cause Duchenne type and Becker type muscular dystrophy. In general, muscular dystrophy mainly affects skeletal muscles, and cardiac involvement is observed usually later in the clinical course.…”

Section: Membranous and Cytoskeletal Mutations In Dcmmentioning

confidence: 99%

“…In general, muscular dystrophy mainly affects skeletal muscles, and cardiac involvement is observed usually later in the clinical course. 56,57 However, X-linked DCM cases usually manifest with cardiac symptoms and subtle skeletal muscle involvement, 55 and phenotypic variance of DMD mutation may be caused by which domain of dystrophin was affected. 56 As shown in Table 4, our study showed that DMD mutations could be found in 5% of sporadic cases.…”

Section: Membranous and Cytoskeletal Mutations In Dcmmentioning

confidence: 99%

Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond

Kimura

2010

J Hum Genet

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Cardiomyopathy is caused by functional abnormality of cardiac muscle. The functional abnormality involved in its etiology includes both extrinsic and intrinsic factors, and cardiomyopathy caused by the intrinsic factors is called as idiopathic or primary cardiomyopathy. There are several clinical types of primary cardiomyopathy including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Linkage studies and candidate gene approaches have explored the disease genes for hereditary primary cardiomyopathy. The most notable finding was that mutations in the same disease gene can be found in different clinical types of cardiomyopathy. Functional analyses of disease-related mutations have revealed that characteristic functional alterations are associated with the clinical types, such that increased and decreased Ca 2+ sensitivity due to sarcomere mutations are associated with HCM and DCM, respectively. In addition, our recent studies have suggested that mutations in the Z-disc components found in HCM and DCM may result in increased and decreased stiffness of sarcomere; that is, stiff sarcomere and loose sarcomere, respectively, and hence altered stretch response. More recently, mutations in the components of I region were found in hereditary cardiomyopathy and the functional analyses of the mutations suggested that the altered stress response was associated with cardiomyopathy, further complicating the etiology and pathogenesis. However, elucidation of genetic etiology and functional alterations caused by the mutations shed lights on the new therapeutic approaches to hereditary cardiomyopathy, such that treatment of DCM with a Ca 2+ sensitizer prevented the disease in a mouse model.

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“…41 X-linked DCM is a rare form of familial DCM that almost exclusively affects males. 42 DMD mutations are well known to cause Duchenne type and Becker type muscular dystrophy. In general, muscular dystrophy affects skeletal muscles and cardiac involvement is usually observed later in the clinical course.…”

Section: Membranous and Cytoskeletal Mutations In Dcmmentioning

confidence: 99%

Molecular Etiology and Pathogenesis of Hereditary Cardiomyopathy

Kimura

2008

Circ J

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Cardiomyopathy is defined as a cardiac disease caused by functional abnormality of cardiac muscle, and the etiology of the functional abnormality includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the intrinsic factors is defined as idiopathic or primary cardiomyopathy, and there are several clinical phenotypes, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). The major intrinsic factor is gene mutations, and linkage studies, as well as candidate gene approaches, have deciphered multiple disease genes for hereditary primary cardiomyopathy. Of note is that mutations in the same disease gene can be found in different clinical phenotypes of cardiomyopathy. Functional analyses of disease-related mutations have revealed that characteristic functional alterations are associated with the clinical phenotypes, such that increased and decreased Ca 2+ sensitivity because of sarcomere mutations are associated with HCM and DCM, respectively. In addition, recent data have suggested that mutations in the Z-disc components found in HCM and DCM may result in increased and decreased stiffness of the sarcomere (ie, stiff sarcomere and loose sarcomere, respectively). More recently, mutations in the components of the I region can be found in hereditary cardiomyopathy, further complicating the etiology of primary cardiomyopathy. (Circ J 2008; Suppl A: A-38 -A-48)

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Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy

Cited by 72 publications

References 67 publications

Gene Mutations in Adult Japanese Patients With Dilated Cardiomyopathy

Gene Mutations in Adult Japanese Patients With Dilated Cardiomyopathy

Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond

Molecular Etiology and Pathogenesis of Hereditary Cardiomyopathy

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