Journal of Veterinary Clinics (한국임상수의학회지)

The Korean Society of Veterinary Clinics (한국임상수의학회)
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Molecular Genetics of Inherited Cardiac Conduction Defects in Humans and Dogs

개와 사람의 선천성 심장 전도장애에 대한 분자 유전학적 이해

  • Published : 2004.06.01
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Abstract

Heart diseases related to conduction system can be occurred by primary defects in conduction system and by secondary to morphological heart diseases or drug toxicities. Multiple molecular defects responsible for arrhythmogenesis, including mutations in ion channels, cytoplasmic ion-channel-interacting proteins, gap-junction proteins, transcription factors and a kinase subunit, were found to be associated with the aetiology of primary cardiac conduction defects, especially inherited form. Despite a big progress in unveiling human arrhythmogenesis, conduction defects in dog has not been well studied except sudden death syndrome in German shepherd. In this review, molecular genetics in cardiac arrhythmogenesis, inherited human diseases associated with conduction defects and similar diseases in dogs will be discussed.

심장 전도계에 관련된 심장 질환은 심장 전도계의 원발성 결함이나 형태학적 심장 질환 및 약물 중독 같은 속발성 원인에 의해 발생한다. 특히 선천성 심장 전도 장애의 경우, 이온 채널, 이온 채널에 관련한 세포질성 단백질, gap-junction 단백질, transcription factors (심장 발생에 관련된 유전자들) 및 kinase subunit을 전사하는 유전자의 돌연변이가 원발성 선천성 심장 전도장애의 원인으로 밝혀지고 있다. 사람의 부정맥 발생에 관련된 발병기전에 커다란 진보가 이루어지고 있음에도 불구하고, 개의 경우, 저먼 세퍼드의 급사 증후군 (sudden death syndrome)을 제외한 다른 전도 장애에 대한 연구는 극히 미비한 상태이다. 본 종설에서는 지금까지 밝혀진 심장 부정맥 발생의 분자 유전학적 고찰과 이와 관련된 사람의 유전학적 질환들과 이와 유사한 개의 선천성 심장 전도 장애에 대해 연구 고찰하였다.

Keywords

References

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