Genes Causing Inherited Forms of Cardiomyopathies

Paul, Matthias; Zumhagen, Sven; Stallmeyer, Birgit; Koopmann, Matthias; Spieker, Tilmann; Schulze‐Bahr, Eric

doi:10.1007/s00059-009-3215-8

Cited by 24 publications

(10 citation statements)

References 120 publications

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“…These diseases affect large numbers of people, often present in childhood, and tend to become more severe with age, commonly resulting in sudden death in young adulthood or congestive heart failure similar to post-myocardial infarction disease (Grünig et al, 1998; Manolio et al, 1992; Maron et al, 1995; Sadoul et al, 1999). Both hypertrophic and dilated cardiomyopathies are now known to have genetic determinants, typically presenting with autosomal dominant inheritance (Paul et al, 2009). …”

Section: Future Directionsmentioning

confidence: 99%

“…Additionally, different mutations in the same contractile proteins can cause either hypertrophic or dilated cardiomyopathy (Paul et al, 2009). The technique of inducing pluripotency in differentiated, adult human cells now theoretically could allow us to reprogram cells from these patients back to an undifferentiated, pluripotent state, then to use our current cardiac differentiation protocols to derive mutant genotype-specific cardiomyocytes.…”

Section: Future Directionsmentioning

confidence: 99%

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Trends in cardiovascular engineering: Organizing the human heart

Tulloch¹,

Murry²

2013

Trends in Cardiovascular Medicine

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The regulation of heart growth through the interaction of cell types, matrix molecules, and mechanical cues is poorly understood, yet is necessary for the heart to reach its proper size and function. Using mechanical load and vascular cell co-culture in combination with a tissue engineering approach, we have recently been able to generate organized human myocardium in vitro and to modulate cardiomyocyte alignment, proliferation, and hypertrophy within the engineered tissue construct; further, we measured contractile function and the force-length dependence of the engineered tissue as a whole. The goal of these studies has been to characterize in vitro models of human cardiac development and to work towards human therapeutics using organized, vascularized, contractile human cardiac tissue. This review will touch on the current state of knowledge in this field, give an overview of the results of our own recent findings, and present areas of active investigation and new directions for future research.

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Section: Future Directionsmentioning

confidence: 99%

Section: Future Directionsmentioning

confidence: 99%

Trends in cardiovascular engineering: Organizing the human heart

Tulloch¹,

Murry²

2013

Trends in Cardiovascular Medicine

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“…The cardiomyopathies can be classified into five subtypes: ( i ) hypertrophic cardiomyopathy (HCM), in which a portion of the myocardium is hypertrophied (thickened), and the heart has to work hard to pump blood [2]; ( ii ) arrhythmogenic right ventricular cardiomyopathy (ARVC), characterized by a predominant right ventricular replacement of the myocardium by partial or total adipose or fibroadipose tissue and ventricular arrhythmias [3]; ( iii ) dilated cardiomyopathy (DCM), in which the heart becomes larger (dilated), and is unable to pump blood efficiently [4]; ( iv ) restrictive cardiomyopathy (RCM), a rare form, in which the heart involves impaired diastolic filling with blood [5]; and ( v ) unclassified [6], [7]. Most cardiomyopathies are autosomal dominantly inherited.…”

Section: Introductionmentioning

confidence: 99%

Prioritizing Disease Candidate Proteins in Cardiomyopathy-Specific Protein-Protein Interaction Networks Based on “Guilt by Association” Analysis

Wan

Chen

et al. 2013

PLoS ONE

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The cardiomyopathies are a group of heart muscle diseases which can be inherited (familial). Identifying potential disease-related proteins is important to understand mechanisms of cardiomyopathies. Experimental identification of cardiomyophthies is costly and labour-intensive. In contrast, bioinformatics approach has a competitive advantage over experimental method. Based on “guilt by association” analysis, we prioritized candidate proteins involving in human cardiomyopathies. We first built weighted human cardiomyopathy-specific protein-protein interaction networks for three subtypes of cardiomyopathies using the known disease proteins from Online Mendelian Inheritance in Man as seeds. We then developed a method in prioritizing disease candidate proteins to rank candidate proteins in the network based on “guilt by association” analysis. It was found that most candidate proteins with high scores shared disease-related pathways with disease seed proteins. These top ranked candidate proteins were related with the corresponding disease subtypes, and were potential disease-related proteins. Cross-validation and comparison with other methods indicated that our approach could be used for the identification of potentially novel disease proteins, which may provide insights into cardiomyopathy-related mechanisms in a more comprehensive and integrated way.

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“…In such cases, gathering information becomes laborious, expensive and time-consuming. There are many examples of diseases that can be caused by mutations in many different genes, including mental retardation (MR), 2 Charcot–Marie–Tooth disease, 3 cardiomyopathy, 4 retinitis pigmentosa, 5 autism, 6 hearing loss 7 and congenital disorders of glycosylation. 8 Extensive resequencing of many disease-associated genes is required to explore, at the sequence and structural level, the genomic variation that might be involved in causing such diseases.…”

Section: Introductionmentioning

confidence: 99%

Experiences with array-based sequence capture; toward clinical applications

et al. 2010

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Although sequencing of a human genome gradually becomes an option, zooming in on the region of interest remains attractive and cost saving. We performed array-based sequence capture using 385K Roche NimbleGen, Inc. arrays to zoom in on the protein-coding and immediate intron-flanking sequences of 112 genes, potentially involved in mental retardation and congenital malformation. Captured material was sequenced using Illumina technology. A data analysis pipeline was built that detects sequence variants, positions them in relation to the gene, checks for presence in databases (eg, db single-nucleotide polymorphism (SNP)) and predicts the potential consequences at the level of RNA splicing and protein translation. In the samples analyzed, all known variants were reliably detected, including pathogenic variants from control cases and SNPs derived from array experiments. Although overall coverage varied considerably, it was reproducible per region and facilitated the detection of large deletions and duplications (copy number variations), including a partial deletion in the B3GALTL gene from a patient sample. For ultimate diagnostic application, overall results need to be improved. Future arrays should contain probes from both DNA strands, and to obtain a more even coverage, one could add fewer probes from densely and more probes from sparsely covered regions.

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Genes Causing Inherited Forms of Cardiomyopathies

Cited by 24 publications

References 120 publications

Trends in cardiovascular engineering: Organizing the human heart

Trends in cardiovascular engineering: Organizing the human heart

Prioritizing Disease Candidate Proteins in Cardiomyopathy-Specific Protein-Protein Interaction Networks Based on “Guilt by Association” Analysis

Experiences with array-based sequence capture; toward clinical applications

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