Identification of the Syrian hamster cardiomyopathy gene

Nigro, Vincenzo

doi:10.1093/hmg/6.4.601

Cited by 257 publications

(137 citation statements)

References 37 publications

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“…11 Similar to the animal models for d-sarcoglycan-deficiency, the cardiomyopathic hamster models and the d-sarcoglycan knock-out mouse, patients can already present severe cardiomyopathy at young age in addition to muscular dystrophy. 23,24 Cardiomyopathy is not a core component of LGMD2F and there have been reports of several patients without cardiac involvement. 25 On the other hand, it has been suggested that mutations in the SGCD gene may cause autosomal-dominant DCM independently from symptoms of LGMD.…”

Section: Discussionmentioning

confidence: 99%

Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

et al. 2009

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In this study we clinically and genetically characterize a consanguineous family with a homozygous novel missense mutation in the d-sarcoglycan gene and a second d-sarcoglycan mutation that has previously been reported to cause severe autosomal-dominant dilated cardiomyopathy. We identified a novel missense mutation in exon 6 (p.A131P) of the d-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy. In four heterozygous carriers for the mutation, aged 3-64 years, a second sequence variant in exon 6 (p.S151A) of the d-sarcoglycan gene was detected on the other allele. This second missense change had previously been reported to be responsible for fatal autosomal-dominant dilated cardiomyopathy at young age. Comprehensive clinical and cardiac investigation in all of the compound heterozygous family members revealed no signs of cardiomyopathy or limb girdle muscular dystrophy. Our findings demonstrate that, even in the presence of a second disease-causing mutation, the p.S151A mutation in the d-sarcoglycan gene does not result in cardiomyopathy. This finding questions the pathological relevance of this sequence variant for causing familial autosomal-dominant dilated cardiomyopathy and thereby the role of the d-sarcoglycan gene in general as a disease-causing gene for autosomal-dominant dilated cardiomyopathy.

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Section: Discussionmentioning

confidence: 99%

Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

et al. 2009

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“…All the CM hamsters share the genomic deletion of about 30-kb interval, which includes the two promoters and first exons of delta-sarcoglycan gene with consequent loss of its protein product [212,248,249]. The consequences of the genetic loss of delta-sarcoglycan in heart are related not only to sarcolemmal fragility but also to coronary vasospasm from disruption of dystrophin-associated protein complex [44].…”

Section: Syrian Cardiomyopathic Hamstermentioning

confidence: 99%

Rodent models of heart failure: an updated review

et al. 2012

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Heart failure (HF) is one of the major health and economic burdens worldwide, and its prevalence is continuously increasing. The study of HF requires reliable animal models to study the chronic changes and pharmacologic interventions in myocardial structure and function and to follow its progression toward HF. Indeed, during the past 40 years, basic and translational scientists have used small animal models to understand the pathophysiology of HF and find more efficient ways of preventing and managing patients suffering from congestive HF (CHF). Each species and each animal model has advantages and disadvantages, and the choice of one model over another should take them into account for a good experimental design. The aim of this review is to describe and highlight the advantages and drawbacks of some commonly used HF rodents models, including both non-genetically and genetically engineered models, with a specific subchapter concerning diastolic HF models.

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“…The cardiomyopathy Syrian hamster Bio14.6 26 was the first available LGMD 2F animal model, with a large deletion in its d-sarcoglycan gene. 27,28 The genetic mutation causes biochemical deficiency of the entire SG complex on both skeletal and cardiac muscle cell membranes. In addition to skeletal muscle myopathy, the Bio14.6 hamsters also suffer from severe cardiomyopathy and congestive heart failure, a primary cause of premature death.…”

Section: Introductionmentioning

confidence: 99%