THE GENETICS OF HCM -MUTANT CATS

摘要

In humans, the familial nature of HCM was first reported in 1958. It has been demonstrated that over 70% of human cases of HCM are inherited in an autosomal dominant pattern, with most other cases being sporadic (although often still genetic in origin). Since 1989, over 450 mutations in 11 genes that encode for sarcomeric proteins have been identified in human families with HCM. They include the p-myosin heavy chain, alpha-tropomyosin, cardiac troponins I, C, and T, myosin binding protein C, essential and regulatory light chains, titin, actin, and a-myosin heavy chain genes.The genes with the most mutations described and the ones that most commonly produce disease are the beta-myosin heavy chain and cardiac myosin binding protein C genes. It is nowknown that sarcomeric gene mutations actually cause HCM since several mutations that have been identified in human families with HCM have been placed in transgenic mice and the disease reproduced, thus fulfilling Koch's postulates.