Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan

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  • HORIUCHI Noriyuki
    Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080–8555, Japan
  • KUMAGAI Daishiro
    Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080–8555, Japan
  • MATSUMOTO Kotaro
    Department of Clinical Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080–8555, Japan
  • INOKUMA Hisashi
    Department of Clinical Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080–8555, Japan
  • FURUOKA Hidefumi
    Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080–8555, Japan
  • KOBAYASHI Yoshiyasu
    Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080–8555, Japan

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  • Pathology : Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan

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Abstract

Bovine dilated cardiomyopathy (DCM) is an autosomal recessive genetic disorder causing congestive heart failure and subsequent death. Recently, a nonsense mutation c.343C>T in the bovine optic atrophy 3 (OPA3) gene had been reported to cause the DCM in Holstein cattle in Switzerland. However, the mutation has not been confirmed in bovine DCM outside Switzerland. Nine Holstein Friesian cows that were macroscopically and histologically diagnosed with or suspected of DCM and 12 control cows kept in Japan were tested for the mutation. The mutation surrounding OPA3 DNA fragment was amplified by PCR and subjected to direct sequences. The homogeneous c.343C>T mutation was proved to occur in all the affected cows and not in the control cows. The present study is the first report of the mutation in the DCM affected cows outside Switzerland.

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