Mutations In Cardiac Myosin Binding Protein C Gene And Modifier Genes In Patients With Hypertrophic Cardiomyopathy

BACKGROUNDHypertrophic cardiomyopathy (HCM) is a genetic disease with an autosomal dominant mode of inheritance characterized by myocardial hypertrophy usually involving in the interventricular septum. HCM has been shown to be caused by various mutations in at least 14 genes, most of which encoding sarcomere proteins. Cardiac myosin binding protein C (cMYBPC) is one protein of the sarcomere complex, cMYBPC gene (MYBPC3) m utation has b een d ocumented as o ne o f t he main causes for HCM. Defects in MYBPC3 were estimated responsible for about 20% of HCM. Most of these associated with delayed expression of cardiac hypertrophy and a benign prognosis.Inter- and intra-variations have been noticed in clinical phenotypes in patients with HCM. The variabilities are probably related to different disease-causing genes, modifier genes and/or environmental factors. According to previous studies, the expression of HCM could be affected by some polymorphisms such as an insertion /deletion (I/D) polymorphism in intron 16 of the gene encoding angiotensin converting enzyme (ACE)and single nucleotide polymorphism (SNP) of A/C in position 1166 of the angiotensin II receptor type 1 gene (AGTRl), an A/G exchange in position -1903 of the cardiac chymase A gene (CMA), a C/T exchange at position...