Adhalin mRNA and cDNA sequence are normal in the cardiomyopathic hamster
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1Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242, USA.
Insights
Adhalin deficiency is linked to muscular dystrophy. In BIO 14.6 hamsters with myopathy and cardiomyopathy, adhalin gene mutations were ruled out as the cause.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Adhalin deficiency is implicated in certain muscular dystrophies.
- BIO 14.6 hamsters exhibit both myopathy and cardiomyopathy, with adhalin deficiency in skeletal and cardiac muscles.
Purpose of the Study:
- To investigate whether mutations in the adhalin gene are responsible for the myopathy and cardiomyopathy in BIO 14.6 hamsters.
Main Methods:
- Cloning and sequencing of cDNA encoding adhalin from BIO 14.6 hamster skeletal muscle.
- Analysis of adhalin mRNA expression levels in BIO 14.6 hamster cardiac muscle.
Main Results:
- The adhalin gene sequence from BIO 14.6 hamster skeletal muscle showed no mutations.
- Adhalin mRNA was expressed at normal levels in the cardiac muscle of BIO 14.6 hamsters.
Conclusions:
- The inherited myopathy and cardiomyopathy in BIO 14.6 hamsters are unlikely caused by mutations in the adhalin gene.
- Further research is needed to identify the genetic cause of these conditions in BIO 14.6 hamsters.
Abstract:
Adhalin is deficient in two forms of human muscular dystrophy, one due to mutations in the adhalin gene and one linked to an unidentified gene on chromosome 13. Because adhalin is deficient in skeletal and cardiac muscles of BIO 14.6 hamsters, which experience both myopathy and cardiomyopathy, cDNA encoding adhalin from BIO 14.6 hamster skeletal muscle was cloned and sequenced. Adhalin mRNA was expressed at normal levels in BIO 14.6 hamster cardiac muscle, and no mutation in adhalin coding sequence was found, indicating that the inherited myopathy and cardiomyopathy of the BIO 14.6 hamster are most likely not due to mutations in the adhalin gene.