Horiuchi Noriyuki, Kumagai Daishiro, Matsumoto Kotaro, Inokuma Hisashi, Furuoka Hidefumi, Kobayashi Yoshiyasu
Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080-8555, Japan.
J Vet Med Sci. 2015 Oct;77(10):1281-3. doi: 10.1292/jvms.15-0150. Epub 2015 May 1.
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.
牛扩张型心肌病（DCM）是一种常染色体隐性遗传疾病，可导致充血性心力衰竭并最终死亡。最近，有报道称瑞士荷斯坦奶牛的牛视神经萎缩3（OPA3）基因中存在一个无义突变c.343C>T，可导致DCM。然而，该突变在瑞士以外的牛DCM中尚未得到证实。对日本9头经大体和组织学诊断患有或疑似患有DCM的荷斯坦弗里生奶牛以及12头对照奶牛进行了该突变检测。通过PCR扩增OPA3 DNA片段周围的突变，并进行直接测序。结果证明，所有患病奶牛均出现了纯合的c.343C>T突变，而对照奶牛未出现该突变。本研究是瑞士以外地区受DCM影响奶牛中该突变的首次报道。
