转基因动物在肥厚型心肌病研究中的应用

肥厚型心肌病(hypertrophic cardiomyopathy,HCM)是一种常染色体显性遗传心肌病,通常表现为室间隔非对称性肥厚,伴或不伴有流出道的明显梗阻.普通人群的患病率为1:5001].约有50%的肥厚型心肌病患者有家族史,男女比例2:1,平均发病年龄为(38±15)岁.本病常为青年(特别是运动员)猝死的原因,且无特效治疗手段2].

Application of transgenic animal in hypertrophic cardiomyopathy

SUMMARY Hypertrophic have been found in genes e cardiomyopathy is an autosomal-dominant disease. Disease-causing mutations ncoding structural components of the thick and thin filament systems of cardiac myoeyte ; it has therefore been named as a disease of sareomere. Many approaches have been used to characterize the pathogenesis of the desease. Transgenic animal models have been created to gain further insight into the pathogenesis of this disease. Most of these models has been made in mice ; however, recently a transgenic rabbit model has been created. In addition,there are several natural-occurring forms of HCM in animals. The discovery of responsible genes and the elucidation of the molecular mechanisms of pathogenesis through the use of animal models promise improved and early diagnosis and the potential for mechanism-based therapeutics.