A mutation in the delta-sarcoglycan gene on chromosome 9qa2.1-b1 was identified as the cause of autosomal recessive cardiomyopathy in the BIO14.6 Syrian hamster model.
Identifies a mutation in the delta-sarcoglycan gene as the cause of cardiomyopathy in the BIO14.6 Syrian hamster, establishing the first animal model for human sarcoglycan disorders.
The BIO14.6 hamster is a widely used model for autosomal recessive cardiomyopathy. These animals die prematurely from progressive myocardial necrosis and heart failure. The primary genetic defect leading to the cardiomyopathy is still unknown. Recently, a genetic linkage map localized the cardiomyopathy locus on hamster chromosome 9qa2.1-b1, excluding several candidate genes. We now demonstrate that the cardiomyopathy results from a mutation in the delta-sarcoglycan gene that maps to the disease locus. This mutation was completely coincident with the disease in backcross and F2 pedigrees. This constitutes the first animal model identified for human sarcoglycan disorders.
Vincenzo Nigro (Tue,) conducted a other in Autosomal recessive cardiomyopathy. Genetic mapping was evaluated on Identification of the genetic mutation causing cardiomyopathy. A mutation in the delta-sarcoglycan gene on chromosome 9qa2.1-b1 was identified as the cause of autosomal recessive cardiomyopathy in the BIO14.6 Syrian hamster model.
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